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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   ERN1_chr17_64034142_64135144  ERN1_chr17_64034142_64135144 (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 2081
ensemblid ENSG00000178607.17
hgncid 3449
symbol ERN1
name endoplasmic reticulum to nucleus signaling 1
refseq_nuc NM_001433.5
refseq_prot NP_001424.3
ensembl_nuc ENST00000433197.4
ensembl_prot ENSP00000401445.2
mane_status MANE Select
chr chr17
start 64039142
end 64130144
strand -
ver v1.2
region chr17:64039142-64130144
region5000 chr17:64034142-64135144
regionname0 ERN1_chr17_64039142_64130144
regionname5000 ERN1_chr17_64034142_64135144

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 977 216 81 49 55 9 20 37 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002 0/0 977 4 0 4 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0003 0/0 977 2 2 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0004 0/0 977 2 2 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0005 0/0 978 2 2 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0006 0/0 977 2 0 1 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0007 0/0 977 2 2 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0008 0/0 977 1 1 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0009 0/0 977 1 0 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0010 0/0 977 1 0 0 1 0 0 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0011 0/0 977 1 0 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 2934 90 17 22 35 5 10 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0002 0/0 2934 74 35 14 16 0 9 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0003 0/0 2934 17 14 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0004 1/0 2934 13 11 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0005 0/0 2934 7 1 2 4 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0006 0/0 2934 5 0 3 0 2 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0007 0/0 2934 4 1 1 0 1 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0008 0/0 2934 3 0 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0009 0/0 2934 3 0 2 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0010 0/0 2934 2 0 1 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0011 0/0 2937 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0012 0/0 2934 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0013 0/0 2934 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0014 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0015 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0016 0/0 2934 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0017 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0018 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0019 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0020 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0021 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0022 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
c0023 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/0 4962 56 12 12 22 1 9 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0002 0/1 4962 51 7 17 15 4 7 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0003 0/0 4962 30 5 8 13 2 2 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0004 0/0 4962 17 14 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0005 1/0 4962 11 9 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0006 0/0 4961 9 7 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0007 0/0 4962 6 0 5 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0008 0/0 4962 5 5 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0009 0/0 4962 5 5 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0010 0/0 4962 5 5 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0011 0/0 4962 3 2 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0012 0/0 4962 3 3 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0013 0/0 4962 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0014 0/0 4962 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0015 0/0 4961 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0016 0/0 4962 2 0 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0017 0/0 4962 2 0 0 2 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0018 0/0 4962 2 1 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0019 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0020 0/0 4962 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0021 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0022 0/0 4961 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0023 0/0 4961 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0024 0/0 4961 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0025 0/0 4962 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0026 0/0 4962 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0027 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0028 0/0 4962 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0029 0/0 4962 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0030 0/0 4962 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0031 0/0 4962 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0032 0/0 4962 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0033 0/0 4964 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0034 0/0 4962 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0035 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0036 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0037 0/0 4964 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0038 0/0 4964 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
t0039 0/0 4962 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 2 0 0 0 0 2 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0002 0/0 2 0 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0003 0/0 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0004 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0005 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0006 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0007 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0008 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0009 0/1 1 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0010 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0011 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0012 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0013 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0014 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0015 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0016 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0017 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0018 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0019 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0020 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0021 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0022 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0023 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0024 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0025 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0026 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0027 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0028 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0029 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0030 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0031 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0032 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0033 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0034 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0035 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0036 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0037 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0038 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0039 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0040 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0041 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0042 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0043 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0044 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0045 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0046 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0047 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0048 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0049 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0050 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0051 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0052 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0053 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0054 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0055 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0056 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0057 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0058 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0059 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0060 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0061 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0062 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0063 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0064 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0065 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0066 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0067 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0068 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0069 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0070 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0071 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0072 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0073 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0074 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0075 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0076 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0077 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0078 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0079 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0080 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0081 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0082 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0083 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0084 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0085 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0086 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0087 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0088 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0089 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0090 1/0 1 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0091 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0092 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0093 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0094 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0095 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0096 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0097 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0098 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0099 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0100 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0101 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0102 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0103 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0104 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0105 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0106 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0107 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0108 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0109 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0110 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0111 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0112 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0113 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0114 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0115 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0116 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0117 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0118 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0119 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0120 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0121 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0122 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0123 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0124 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0125 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0126 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0127 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0128 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0129 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0130 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0131 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0132 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0133 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0134 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0135 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0136 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0137 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0138 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0139 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0140 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0141 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0142 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0143 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0144 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0145 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0146 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0147 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0148 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0149 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0150 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0151 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0152 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0153 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0154 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0155 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0156 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0157 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0158 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0159 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0160 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0161 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0162 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0163 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0164 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0165 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0166 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0167 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0168 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0169 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0170 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0171 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0172 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0173 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0174 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0175 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0176 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0177 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0178 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0179 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0180 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0181 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0182 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0183 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0184 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0185 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0186 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0187 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0188 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0189 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0190 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0191 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0192 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0193 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0194 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0195 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0196 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0197 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0198 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0199 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0200 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0201 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0202 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0203 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0204 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0205 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0206 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0207 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0208 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0209 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0210 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0211 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0212 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0213 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0214 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0215 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0216 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0217 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0218 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0219 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0220 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0221 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0222 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0223 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0224 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0225 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0226 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0227 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0228 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0229 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0230 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
g0231 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 2934 90 17 22 35 5 10 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002 0/0 2934 74 35 14 16 0 9 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0003 0/0 2934 17 14 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0004 1/0 2934 13 11 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0005 0/0 2934 7 1 2 4 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0006 0/0 2934 5 0 3 0 2 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0007 0/0 2934 4 1 1 0 1 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0009 0/0 2934 3 0 2 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0018 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0021 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0022 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002c0008 0/0 2934 3 0 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002c0017 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0003c0019 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0003c0020 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0004c0012 0/0 2934 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0005c0011 0/0 2937 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0006c0010 0/0 2934 2 0 1 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0007c0013 0/0 2934 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0008c0014 0/0 2934 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0009c0015 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0010c0016 0/0 2934 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0011c0023 0/0 2934 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 7895 2 0 0 2 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0002 0/1 7895 46 7 14 14 3 7 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0003 0/0 7895 26 4 5 13 2 2 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0009 0/0 7895 5 5 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0016 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0017 0/0 7895 2 0 0 2 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0020 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0026 0/0 7895 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0027 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0028 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0029 0/0 7895 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0030 0/0 7895 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0031 0/0 7895 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0001t0032 0/0 7895 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0001 0/0 7895 43 10 9 16 0 8 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0006 0/0 7894 9 7 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0007 0/0 7895 2 0 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0008 0/0 7895 4 4 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0010 0/0 7895 5 5 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0011 0/0 7895 3 2 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0012 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0013 0/0 7895 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0015 0/0 7894 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0021 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0024 0/0 7894 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0002t0039 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0003t0004 0/0 7895 16 13 3 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0003t0019 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0004t0005 1/0 7895 10 8 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0004t0018 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0004t0035 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0004t0036 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0005t0001 0/0 7895 7 1 2 4 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0006t0007 0/0 7895 4 0 3 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0006t0025 0/0 7895 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0007t0001 0/0 7895 4 1 1 0 1 1 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0009t0002 0/0 7895 3 0 2 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0018t0004 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0021t0018 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0001c0022t0033 0/0 7897 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002c0008t0003 0/0 7895 2 0 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002c0008t0034 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0002c0017t0003 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0003c0019t0008 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0003c0020t0003 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0004c0012t0037 0/0 7897 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0004c0012t0038 0/0 7897 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0005c0011t0012 0/0 7898 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0006c0010t0022 0/0 7894 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0006c0010t0023 0/0 7894 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0007c0013t0014 0/0 7895 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0008c0014t0005 0/0 7895 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0009c0015t0002 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0010c0016t0002 0/0 7895 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144
a0011c0023t0016 0/0 7895 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 copy fasta chr17 64034142 64135144

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0004 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0007 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0009 0/1 1 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0014 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0016 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0021 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0024 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0025 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0033 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0040 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0042 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0050 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0056 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0057 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0059 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0060 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0061 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0064 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0076 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0078 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0079 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0081 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0084 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0085 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0091 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0092 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0093 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0094 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0095 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0097 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0099 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0100 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0103 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0104 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0106 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0107 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0108 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0109 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0110 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0117 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0125 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0140 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0141 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0193 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0002g0212 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0053 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0054 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0080 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0105 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0112 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0115 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0151 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0162 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0183 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0184 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0185 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0186 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0187 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0189 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0190 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0191 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0192 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0197 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0198 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0199 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0200 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0201 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0202 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0203 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0210 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0003g0225 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0009g0127 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0009g0128 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0009g0129 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0009g0130 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0009g0133 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0016g0077 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0017g0067 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0017g0087 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0020g0010 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0026g0114 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0027g0071 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0028g0161 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0029g0055 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0030g0182 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0031g0006 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0001t0032g0098 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0001 0/0 2 0 0 0 0 2 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0005 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0011 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0012 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0015 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0018 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0019 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0020 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0023 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0026 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0027 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0029 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0030 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0031 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0032 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0034 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0035 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0043 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0044 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0046 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0048 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0049 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0052 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0065 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0066 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0068 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0069 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0073 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0074 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0082 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0088 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0089 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0101 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0123 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0126 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0134 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0139 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0156 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0168 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0170 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0195 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0001g0218 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0028 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0132 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0167 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0169 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0173 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0174 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0175 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0176 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0006g0178 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0007g0180 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0007g0181 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0008g0166 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0008g0171 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0008g0177 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0008g0179 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0010g0213 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0010g0214 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0010g0215 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0010g0216 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0010g0217 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0011g0136 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0011g0137 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0011g0138 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0012g0135 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0013g0204 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0013g0206 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0015g0220 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0015g0221 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0021g0219 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0024g0142 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0002t0039g0231 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0002 0/0 2 0 2 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0131 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0143 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0145 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0146 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0147 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0148 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0149 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0152 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0153 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0159 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0160 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0172 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0208 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0004g0209 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0003t0019g0207 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0003 0/0 2 2 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0090 1/0 1 0 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0205 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0222 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0223 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0224 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0226 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0227 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0005g0228 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0018g0163 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0035g0165 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0004t0036g0164 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0013 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0047 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0070 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0075 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0083 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0111 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0005t0001g0116 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0006t0007g0102 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0006t0007g0118 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0006t0007g0119 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0006t0007g0120 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0006t0025g0113 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0007t0001g0036 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0007t0001g0037 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0007t0001g0038 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0007t0001g0039 0/0 1 0 0 0 0 1 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0009t0002g0041 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0009t0002g0062 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0009t0002g0063 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0018t0004g0144 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0021t0018g0150 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0001c0022t0033g0155 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0002c0008t0003g0096 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0002c0008t0003g0196 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0002c0008t0034g0188 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0002c0017t0003g0194 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0003c0019t0008g0154 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0003c0020t0003g0022 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0004c0012t0037g0229 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0004c0012t0038g0230 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0005c0011t0012g0017 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0005c0011t0012g0124 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0006c0010t0022g0122 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0006c0010t0023g0121 0/0 1 0 0 0 1 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0007c0013t0014g0157 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0007c0013t0014g0158 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0008c0014t0005g0211 0/0 1 1 0 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0009c0015t0002g0058 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0010c0016t0002g0008 0/0 1 0 0 1 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
a0011c0023t0016g0051 0/0 1 0 1 0 0 0 ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00280 hp1 a0001 c0001 t0003 g0210 EUR FIN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00280 hp2 a0001 c0007 t0001 g0036 EUR FIN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00408 hp1 a0001 c0001 t0002 g0060 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00408 hp2 a0001 c0001 t0003 g0184 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00558 hp1 a0001 c0001 t0017 g0087 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00558 hp2 a0001 c0002 t0001 g0073 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00621 hp1 a0001 c0005 t0001 g0116 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00621 hp2 a0001 c0002 t0001 g0082 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00639 hp1 a0001 c0001 t0003 g0202 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00639 hp2 a0001 c0001 t0003 g0080 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00673 hp1 a0001 c0001 t0003 g0186 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00673 hp2 a0001 c0002 t0001 g0044 EAS CHS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00733 hp1 a0001 c0001 t0003 g0054 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00733 hp2 a0001 c0002 t0006 g0169 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00738 hp1 a0001 c0001 t0028 g0161 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00738 hp2 a0001 c0001 t0002 g0014 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00741 hp1 a0001 c0006 t0007 g0120 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG00741 hp2 a0001 c0001 t0002 g0040 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01069 hp1 a0006 c0010 t0022 g0122 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01069 hp2 a0001 c0003 t0004 g0002 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01071 hp1 a0001 c0002 t0001 g0043 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01071 hp2 a0001 c0003 t0004 g0002 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01074 hp1 a0002 c0008 t0003 g0096 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01074 hp2 a0001 c0001 t0002 g0193 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01081 hp1 a0001 c0002 t0007 g0180 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01081 hp2 a0001 c0001 t0002 g0108 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01099 hp1 a0001 c0004 t0005 g0227 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01099 hp2 a0001 c0001 t0016 g0077 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01106 hp1 a0001 c0002 t0001 g0139 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01106 hp2 a0001 c0001 t0002 g0057 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01109 hp1 a0001 c0001 t0002 g0092 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01109 hp2 a0001 c0002 t0006 g0173 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01167 hp1 a0001 c0009 t0002 g0063 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01167 hp2 a0001 c0001 t0002 g0212 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01192 hp1 a0001 c0001 t0002 g0064 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01192 hp2 a0001 c0002 t0001 g0068 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01243 hp1 a0001 c0009 t0002 g0041 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01243 hp2 a0001 c0003 t0004 g0159 AMR PUR ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01255 hp1 a0001 c0001 t0002 g0024 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01255 hp2 a0001 c0007 t0001 g0038 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01256 hp1 a0001 c0001 t0002 g0094 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01256 hp2 a0001 c0006 t0007 g0119 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01258 hp1 a0001 c0006 t0007 g0118 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01258 hp2 a0001 c0001 t0002 g0106 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01346 hp1 a0001 c0002 t0011 g0138 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01346 hp2 a0011 c0023 t0016 g0051 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01361 hp1 a0001 c0001 t0003 g0190 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01361 hp2 a0002 c0008 t0034 g0188 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01515 hp1 a0006 c0010 t0023 g0121 EUR IBS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01515 hp2 a0001 c0001 t0002 g0091 EUR IBS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01516 hp1 a0001 c0009 t0002 g0062 EUR IBS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01516 hp2 a0001 c0006 t0007 g0102 EUR IBS ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01884 hp1 a0007 c0013 t0014 g0158 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01884 hp2 a0001 c0002 t0012 g0135 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01891 hp1 a0001 c0004 t0005 g0222 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01891 hp2 a0001 c0004 t0018 g0163 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01928 hp1 a0001 c0002 t0001 g0195 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01928 hp2 a0009 c0015 t0002 g0058 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01934 hp1 a0001 c0021 t0018 g0150 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01934 hp2 a0001 c0005 t0001 g0075 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01975 hp1 a0002 c0008 t0003 g0196 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01975 hp2 a0001 c0002 t0001 g0065 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01978 hp1 a0001 c0001 t0002 g0110 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01978 hp2 a0001 c0002 t0001 g0066 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01981 hp1 a0001 c0001 t0020 g0010 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01981 hp2 a0001 c0002 t0001 g0126 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02027 hp1 a0001 c0001 t0002 g0140 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02027 hp2 a0001 c0001 t0031 g0006 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02055 hp1 a0001 c0001 t0002 g0021 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02055 hp2 a0001 c0002 t0001 g0168 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02135 hp1 a0001 c0002 t0001 g0046 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02135 hp2 a0001 c0001 t0030 g0182 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02145 hp1 a0001 c0001 t0009 g0128 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02145 hp2 a0001 c0007 t0001 g0037 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02148 hp1 a0001 c0005 t0001 g0111 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02148 hp2 a0001 c0002 t0001 g0026 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02155 hp1 a0001 c0001 t0003 g0115 EAS CDX ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02155 hp2 a0001 c0001 t0001 g0072 EAS CDX ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02257 hp1 a0001 c0002 t0001 g0019 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02257 hp2 a0001 c0001 t0009 g0127 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02258 hp1 a0001 c0001 t0002 g0050 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02258 hp2 a0001 c0003 t0004 g0208 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02273 hp1 a0001 c0001 t0003 g0112 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02273 hp2 a0001 c0002 t0001 g0069 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02280 hp1 a0001 c0001 t0002 g0097 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02280 hp2 a0001 c0002 t0010 g0216 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02300 hp1 a0002 c0017 t0003 g0194 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02300 hp2 a0001 c0001 t0002 g0107 AMR PEL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02451 hp1 a0001 c0002 t0001 g0018 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02451 hp2 a0004 c0012 t0038 g0230 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02523 hp1 a0001 c0001 t0032 g0098 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02523 hp2 a0001 c0001 t0003 g0189 EAS KHV ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02572 hp1 a0001 c0002 t0001 g0005 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02572 hp2 a0001 c0003 t0004 g0152 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02622 hp1 a0001 c0004 t0005 g0205 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02622 hp2 a0001 c0001 t0009 g0133 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02630 hp1 a0001 c0001 t0003 g0225 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02630 hp2 a0003 c0020 t0003 g0022 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02647 hp1 a0001 c0002 t0006 g0167 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02647 hp2 a0001 c0003 t0004 g0149 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02717 hp1 a0001 c0002 t0001 g0218 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02717 hp2 a0001 c0003 t0004 g0143 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02723 hp1 a0001 c0003 t0004 g0145 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02723 hp2 a0001 c0002 t0008 g0179 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02738 hp1 a0001 c0002 t0001 g0011 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02738 hp2 a0001 c0001 t0002 g0007 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02809 hp1 a0001 c0002 t0011 g0137 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02809 hp2 a0001 c0002 t0001 g0023 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02818 hp1 a0001 c0004 t0035 g0165 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02818 hp2 a0001 c0002 t0006 g0028 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02886 hp1 a0001 c0004 t0005 g0228 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02886 hp2 a0001 c0001 t0009 g0129 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02895 hp1 a0001 c0001 t0003 g0187 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02895 hp2 a0001 c0002 t0015 g0221 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02896 hp1 a0003 c0019 t0008 g0154 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02896 hp2 a0001 c0004 t0005 g0224 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02897 hp1 a0001 c0004 t0005 g0223 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02897 hp2 a0001 c0002 t0015 g0220 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02922 hp1 a0001 c0004 t0005 g0003 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02922 hp2 a0001 c0018 t0004 g0144 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02965 hp1 a0001 c0003 t0019 g0207 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02965 hp2 a0001 c0002 t0006 g0178 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02970 hp1 a0001 c0002 t0006 g0176 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02970 hp2 a0001 c0002 t0010 g0214 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02976 hp1 a0001 c0002 t0001 g0170 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02976 hp2 a0001 c0002 t0010 g0217 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03098 hp1 a0001 c0003 t0004 g0172 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03098 hp2 a0001 c0002 t0013 g0206 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03130 hp1 a0001 c0002 t0008 g0166 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03130 hp2 a0001 c0003 t0004 g0147 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03195 hp1 a0001 c0002 t0001 g0020 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03195 hp2 a0001 c0003 t0004 g0209 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03209 hp1 a0001 c0003 t0004 g0153 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03209 hp2 a0005 c0011 t0012 g0124 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03225 hp1 a0001 c0004 t0005 g0003 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03225 hp2 a0001 c0002 t0008 g0177 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03453 hp1 a0001 c0002 t0010 g0213 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03453 hp2 a0001 c0003 t0004 g0148 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03490 hp1 a0001 c0002 t0024 g0142 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03490 hp2 a0001 c0002 t0001 g0001 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03492 hp1 a0001 c0002 t0001 g0001 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03492 hp2 a0001 c0001 t0002 g0076 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03516 hp1 a0001 c0002 t0013 g0204 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03516 hp2 a0005 c0011 t0012 g0017 AFR ESN ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03540 hp1 a0001 c0003 t0004 g0146 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03540 hp2 a0001 c0002 t0021 g0219 AFR GWD ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03704 hp1 a0001 c0002 t0001 g0074 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03704 hp2 a0001 c0001 t0003 g0199 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03710 hp1 a0001 c0001 t0002 g0056 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03710 hp2 a0001 c0002 t0001 g0048 SAS PJL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03834 hp1 a0001 c0001 t0002 g0109 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03834 hp2 a0001 c0001 t0003 g0203 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03927 hp1 a0001 c0002 t0001 g0089 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03927 hp2 a0001 c0001 t0002 g0095 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03942 hp1 a0001 c0001 t0002 g0042 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03942 hp2 a0001 c0002 t0001 g0052 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG04184 hp1 a0001 c0007 t0001 g0039 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG04184 hp2 a0001 c0001 t0002 g0059 SAS BEB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG04199 hp1 a0001 c0002 t0001 g0049 SAS STU ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG04199 hp2 a0001 c0001 t0029 g0055 SAS STU ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18522 hp1 a0001 c0003 t0004 g0131 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18522 hp2 a0001 c0001 t0003 g0151 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18747 hp1 a0001 c0002 t0001 g0101 EAS CHB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18747 hp2 a0001 c0001 t0003 g0200 EAS CHB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18906 hp1 a0001 c0001 t0009 g0130 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18906 hp2 a0001 c0003 t0004 g0160 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18941 hp1 a0001 c0001 t0003 g0198 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18941 hp2 a0001 c0001 t0026 g0114 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18954 hp1 a0001 c0001 t0017 g0067 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18954 hp2 a0001 c0001 t0003 g0197 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18957 hp1 a0001 c0001 t0002 g0084 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18957 hp2 a0001 c0002 t0001 g0032 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18965 hp1 a0001 c0005 t0001 g0070 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18965 hp2 a0001 c0001 t0002 g0085 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18967 hp1 a0001 c0002 t0001 g0030 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18967 hp2 a0001 c0001 t0003 g0053 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18971 hp1 a0001 c0001 t0002 g0086 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18971 hp2 a0001 c0001 t0002 g0103 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18973 hp1 a0001 c0001 t0002 g0125 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18973 hp2 a0001 c0001 t0001 g0045 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18977 hp1 a0001 c0001 t0003 g0191 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18977 hp2 a0001 c0002 t0001 g0034 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18978 hp1 a0010 c0016 t0002 g0008 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18978 hp2 a0001 c0002 t0001 g0015 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18982 hp1 a0001 c0001 t0002 g0033 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18982 hp2 a0001 c0002 t0001 g0088 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18986 hp1 a0001 c0001 t0002 g0079 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18986 hp2 a0001 c0002 t0001 g0031 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18999 hp1 a0001 c0001 t0003 g0185 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA18999 hp2 a0001 c0001 t0002 g0081 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19007 hp1 a0001 c0002 t0001 g0123 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19007 hp2 a0001 c0001 t0002 g0078 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19009 hp1 a0001 c0005 t0001 g0083 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19009 hp2 a0001 c0001 t0002 g0100 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19011 hp1 a0001 c0001 t0003 g0183 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19011 hp2 a0001 c0005 t0001 g0047 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19030 hp1 a0001 c0002 t0039 g0231 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19030 hp2 a0007 c0013 t0014 g0157 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19043 hp1 a0001 c0002 t0001 g0027 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19043 hp2 a0008 c0014 t0005 g0211 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19065 hp1 a0001 c0002 t0001 g0035 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19065 hp2 a0001 c0001 t0003 g0105 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19066 hp1 a0001 c0002 t0001 g0029 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19066 hp2 a0001 c0001 t0003 g0192 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19084 hp1 a0001 c0001 t0002 g0016 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19084 hp2 a0001 c0002 t0001 g0012 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19091 hp1 a0001 c0002 t0001 g0134 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19091 hp2 a0001 c0001 t0002 g0117 EAS JPT ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19240 hp1 a0001 c0002 t0011 g0136 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA19240 hp2 a0001 c0001 t0002 g0025 AFR YRI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20129 hp1 a0001 c0001 t0002 g0099 AFR ASW ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20129 hp2 a0001 c0001 t0003 g0201 AFR ASW ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20752 hp1 a0001 c0001 t0002 g0104 EUR TSI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20752 hp2 a0001 c0001 t0003 g0162 EUR TSI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20805 hp1 a0001 c0006 t0025 g0113 EUR TSI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20805 hp2 a0001 c0001 t0002 g0093 EUR TSI ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01123 hp1 a0001 c0001 t0002 g0141 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG01123 hp2 a0001 c0002 t0007 g0181 AMR CLM ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02109 hp1 a0001 c0002 t0001 g0156 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02109 hp2 a0001 c0001 t0002 g0004 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02486 hp1 a0004 c0012 t0037 g0229 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02486 hp2 a0001 c0022 t0033 g0155 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02559 hp1 a0001 c0002 t0008 g0171 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG02559 hp2 a0001 c0002 t0010 g0215 AFR ACB ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03471 hp1 a0001 c0002 t0006 g0175 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG03471 hp2 a0001 c0002 t0006 g0132 AFR MSL ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG06807 hp1 a0001 c0002 t0006 g0174 AFR USA ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
HG06807 hp2 a0001 c0001 t0002 g0061 AFR USA ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20300 hp1 a0001 c0005 t0001 g0013 AFR USA ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA20300 hp2 a0001 c0004 t0036 g0164 AFR USA ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA21309 hp1 a0001 c0004 t0005 g0226 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
NA21309 hp2 a0001 c0001 t0027 g0071 AFR LWK ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0009 REF REF ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144
homoSapiens_grch38 hp1 a0001 c0004 t0005 g0090 REF REF ERN1_chr17_64034142_64135144 ERN1 chr17 64034142 64135144

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
chr17:64043996 C
C
 T
T
 1 a0003
a0003
 2 HG02630.hp2
HG02896.hp1
HG02630.hp2
HG02896.hp1
 missense_variant MODERATE c.2926G>A
c.2926G>A
 p.Ala976Thr
p.Ala976Thr
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3041/7895 2926/2934 976/977 chr17 64043996
chr17:64044182 G
G
 T
T
 1 a0002
a0002
 4 HG01074.hp1
HG01361.hp2
HG01975.hp1
others(1): Show 
HG01074.hp1
HG01361.hp2
HG01975.hp1
HG02300.hp1
 missense_variant MODERATE c.2740C>A
c.2740C>A
 p.Leu914Met
p.Leu914Met
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2855/7895 2740/2934 914/977 chr17 64044182
chr17:64053370 T
T
 C
C
 1 a0011
a0011
 1 HG01346.hp2
HG01346.hp2
 missense_variant&splice_region_variant MODERATE c.1955A>G
c.1955A>G
 p.Tyr652Cys
p.Tyr652Cys
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 16/22 2070/7895 1955/2934 652/977 chr17 64053370
chr17:64055698 G
G
 C
C
 1 a0004
a0004
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 missense_variant MODERATE c.1649C>G
c.1649C>G
 p.Pro550Arg
p.Pro550Arg
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/22 1764/7895 1649/2934 550/977 chr17 64055698
chr17:64055860 A
A
 AGCT
AGCT
 1 a0005
a0005
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 conservative_inframe_insertion MODERATE c.1484_1486dupAGC
c.1484_1486dupAGC
 p.Gln495dup
p.Gln495dup
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/22 1601/7895 1486/2934 496/977 chr17 64055860
chr17:64055926 A
A
 C
C
 1 a0006
a0006
 2 HG01069.hp1
HG01515.hp1
HG01069.hp1
HG01515.hp1
 missense_variant MODERATE c.1421T>G
c.1421T>G
 p.Leu474Arg
p.Leu474Arg
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/22 1536/7895 1421/2934 474/977 chr17 64055926
chr17:64060515 C
C
 T
T
 1 a0010
a0010
 1 NA18978.hp1
NA18978.hp1
 missense_variant MODERATE c.1160G>A
c.1160G>A
 p.Arg387Gln
p.Arg387Gln
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/22 1275/7895 1160/2934 387/977 chr17 64060515
chr17:64060533 T
T
 C
C
 1 a0007
a0007
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 missense_variant MODERATE c.1142A>G
c.1142A>G
 p.Asn381Ser
p.Asn381Ser
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/22 1257/7895 1142/2934 381/977 chr17 64060533
chr17:64068199 C
C
 T
T
 1 a0009
a0009
 1 HG01928.hp2
HG01928.hp2
 missense_variant MODERATE c.571G>A
c.571G>A
 p.Val191Met
p.Val191Met
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/22 686/7895 571/2934 191/977 chr17 64068199
chr17:64079669 C
C
 T
T
 1 a0008
a0008
 1 NA19043.hp2
NA19043.hp2
 missense_variant MODERATE c.275G>A
c.275G>A
 p.Gly92Asp
p.Gly92Asp
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/22 390/7895 275/2934 92/977 chr17 64079669

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
chr17:64044120 T
T
 C
C
 9 a0001c0001
a0001c0009
a0001c0018
others(6): Show 
a0001c0001
a0001c0009
a0001c0018
a0002c0008
a0002c0017
a0003c0020
a0009c0015
a0010c0016
a0011c0023
 102 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(99): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02155.hp2
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2802A>G
c.2802A>G
 p.Thr934Thr
p.Thr934Thr
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2917/7895 2802/2934 934/977 chr17 64044120
chr17:64047912 A
A
 G
G
 20 a0001c0001
a0001c0002
a0001c0003
others(17): Show 
a0001c0001
a0001c0002
a0001c0003
a0001c0005
a0001c0006
a0001c0007
a0001c0009
a0001c0018
a0001c0022
a0002c0008
a0002c0017
a0003c0019
a0003c0020
a0004c0012
a0005c0011
a0006c0010
a0007c0013
a0009c0015
a0010c0016
a0011c0023
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2475T>C
c.2475T>C
 p.His825His
p.His825His
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/22 2590/7895 2475/2934 825/977 chr17 64047912
chr17:64047918 C
C
 T
T
 1 a0001c0009
a0001c0009
 3 HG01167.hp1
HG01243.hp1
HG01516.hp1
HG01167.hp1
HG01243.hp1
HG01516.hp1
 synonymous_variant LOW c.2469G>A
c.2469G>A
 p.Ala823Ala
p.Ala823Ala
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/22 2584/7895 2469/2934 823/977 chr17 64047918
chr17:64049065 T
T
 C
C
 1 a0001c0022
a0001c0022
 1 HG02486.hp2
HG02486.hp2
 synonymous_variant LOW c.2391A>G
c.2391A>G
 p.Pro797Pro
p.Pro797Pro
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/22 2506/7895 2391/2934 797/977 chr17 64049065
chr17:64049098 G
G
 A
A
 1 a0004c0012
a0004c0012
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 synonymous_variant LOW c.2358C>T
c.2358C>T
 p.Leu786Leu
p.Leu786Leu
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/22 2473/7895 2358/2934 786/977 chr17 64049098
chr17:64049146 C
C
 T
T
 2 a0001c0003
a0001c0018
a0001c0003
a0001c0018
 18 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(15): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 synonymous_variant LOW c.2310G>A
c.2310G>A
 p.Glu770Glu
p.Glu770Glu
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/22 2425/7895 2310/2934 770/977 chr17 64049146
chr17:64054334 C
C
 T
T
 1 a0002c0017
a0002c0017
 1 HG02300.hp1
HG02300.hp1
 synonymous_variant LOW c.1869G>A
c.1869G>A
 p.Pro623Pro
p.Pro623Pro
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/22 1984/7895 1869/2934 623/977 chr17 64054334
chr17:64054800 C
C
 T
T
 1 a0001c0007
a0001c0007
 4 HG00280.hp2
HG01255.hp2
HG02145.hp2
others(1): Show 
HG00280.hp2
HG01255.hp2
HG02145.hp2
HG04184.hp1
 synonymous_variant LOW c.1701G>A
c.1701G>A
 p.Gly567Gly
p.Gly567Gly
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 14/22 1816/7895 1701/2934 567/977 chr17 64054800
chr17:64060570 G
G
 A
A
 1 a0001c0009
a0001c0009
 3 HG01167.hp1
HG01243.hp1
HG01516.hp1
HG01167.hp1
HG01243.hp1
HG01516.hp1
 synonymous_variant LOW c.1105C>T
c.1105C>T
 p.Leu369Leu
p.Leu369Leu
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/22 1220/7895 1105/2934 369/977 chr17 64060570
chr17:64064095 A
A
 G
G
 21 a0001c0001
a0001c0002
a0001c0003
others(18): Show 
a0001c0001
a0001c0002
a0001c0003
a0001c0005
a0001c0006
a0001c0007
a0001c0009
a0001c0018
a0001c0021
a0001c0022
a0002c0008
a0002c0017
a0003c0019
a0003c0020
a0004c0012
a0005c0011
a0006c0010
a0007c0013
a0009c0015
a0010c0016
a0011c0023
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.978T>C
c.978T>C
 p.Ile326Ile
p.Ile326Ile
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/22 1093/7895 978/2934 326/977 chr17 64064095
chr17:64066862 C
C
 T
T
 1 a0001c0005
a0001c0005
 7 HG00621.hp1
HG01934.hp2
HG02148.hp1
others(4): Show 
HG00621.hp1
HG01934.hp2
HG02148.hp1
NA18965.hp1
NA19009.hp1
NA19011.hp2
NA20300.hp1
 synonymous_variant LOW c.651G>A
c.651G>A
 p.Leu217Leu
p.Leu217Leu
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/22 766/7895 651/2934 217/977 chr17 64066862
chr17:64075218 C
C
 T
T
 2 a0001c0006
a0006c0010
a0001c0006
a0006c0010
 7 HG00741.hp1
HG01069.hp1
HG01256.hp2
others(4): Show 
HG00741.hp1
HG01069.hp1
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
NA20805.hp1
 synonymous_variant LOW c.312G>A
c.312G>A
 p.Val104Val
p.Val104Val
 ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/22 427/7895 312/2934 104/977 chr17 64075218

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
chr17:64039425 G
G
 T
T
 1 a0006c0010t0022
a0006c0010t0022
 1 HG01069.hp1
HG01069.hp1
 3_prime_UTR_variant MODIFIER c.*4563C>A
c.*4563C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 4563 chr17 64039425
chr17:64039454 A
A
 G
G
 1 a0001c0001t0029
a0001c0001t0029
 1 HG04199.hp2
HG04199.hp2
 3_prime_UTR_variant MODIFIER c.*4534T>C
c.*4534T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 4534 chr17 64039454
chr17:64039902 C
C
 T
T
 12 a0001c0001t0002
a0001c0001t0016
a0001c0001t0017
others(9): Show 
a0001c0001t0002
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0028
a0001c0001t0029
a0001c0001t0032
a0001c0009t0002
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 60 HG00408.hp1
HG00558.hp1
HG00738.hp1
others(57): Show 
HG00408.hp1
HG00558.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02738.hp2
HG03492.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18941.hp2
NA18954.hp1
NA18957.hp1
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*4086G>A
c.*4086G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 4086 chr17 64039902
chr17:64039905 C
C
 G
G
 1 a0001c0001t0017
a0001c0001t0017
 2 HG00558.hp1
NA18954.hp1
HG00558.hp1
NA18954.hp1
 3_prime_UTR_variant MODIFIER c.*4083G>C
c.*4083G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 4083 chr17 64039905
chr17:64040001 G
G
 C
C
 1 a0001c0002t0024
a0001c0002t0024
 1 HG03490.hp1
HG03490.hp1
 3_prime_UTR_variant MODIFIER c.*3987C>G
c.*3987C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3987 chr17 64040001
chr17:64040058 T
T
 C
C
 4 a0001c0002t0006
a0001c0002t0008
a0001c0002t0024
others(1): Show 
a0001c0002t0006
a0001c0002t0008
a0001c0002t0024
a0003c0019t0008
 15 HG00733.hp2
HG01109.hp2
HG02559.hp1
others(12): Show 
HG00733.hp2
HG01109.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*3930A>G
c.*3930A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3930 chr17 64040058
chr17:64040161 T
T
 C
C
 1 a0001c0002t0024
a0001c0002t0024
 1 HG03490.hp1
HG03490.hp1
 3_prime_UTR_variant MODIFIER c.*3827A>G
c.*3827A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3827 chr17 64040161
chr17:64040168 A
A
 G
G
 1 a0001c0001t0009
a0001c0001t0009
 5 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(2): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*3820T>C
c.*3820T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3820 chr17 64040168
chr17:64040208 G
G
 A
A
 2 a0001c0002t0013
a0001c0002t0039
a0001c0002t0013
a0001c0002t0039
 3 HG03098.hp2
HG03516.hp1
NA19030.hp1
HG03098.hp2
HG03516.hp1
NA19030.hp1
 3_prime_UTR_variant MODIFIER c.*3780C>T
c.*3780C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3780 chr17 64040208
chr17:64040373 T
T
 C
C
 9 a0001c0001t0001
a0001c0001t0030
a0001c0001t0031
others(6): Show 
a0001c0001t0001
a0001c0001t0030
a0001c0001t0031
a0001c0002t0001
a0001c0002t0013
a0001c0002t0039
a0001c0005t0001
a0001c0007t0001
a0007c0013t0014
 63 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(60): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01928.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02976.hp1
HG03098.hp2
HG03195.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 3_prime_UTR_variant MODIFIER c.*3615A>G
c.*3615A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3615 chr17 64040373
chr17:64040941 C
C
 T
T
 2 a0001c0001t0016
a0011c0023t0016
a0001c0001t0016
a0011c0023t0016
 2 HG01099.hp2
HG01346.hp2
HG01099.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*3047G>A
c.*3047G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3047 chr17 64040941
chr17:64040972 C
C
 T
T
 1 a0004c0012t0037
a0004c0012t0037
 1 HG02486.hp1
HG02486.hp1
 3_prime_UTR_variant MODIFIER c.*3016G>A
c.*3016G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 3016 chr17 64040972
chr17:64041102 C
C
 T
T
 1 a0001c0001t0028
a0001c0001t0028
 1 HG00738.hp1
HG00738.hp1
 3_prime_UTR_variant MODIFIER c.*2886G>A
c.*2886G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2886 chr17 64041102
chr17:64041135 G
G
 A
A
 1 a0007c0013t0014
a0007c0013t0014
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*2853C>T
c.*2853C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2853 chr17 64041135
chr17:64041222 C
C
 T
T
 1 a0001c0002t0021
a0001c0002t0021
 1 HG03540.hp2
HG03540.hp2
 3_prime_UTR_variant MODIFIER c.*2766G>A
c.*2766G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2766 chr17 64041222
chr17:64041399 C
C
 T
T
 1 a0001c0022t0033
a0001c0022t0033
 1 HG02486.hp2
HG02486.hp2
 3_prime_UTR_variant MODIFIER c.*2589G>A
c.*2589G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2589 chr17 64041399
chr17:64041518 A
A
 C
C
 11 a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
others(8): Show 
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0015
a0001c0002t0024
a0001c0006t0007
a0001c0006t0025
a0003c0019t0008
a0006c0010t0022
a0006c0010t0023
 29 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(26): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA19240.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*2470T>G
c.*2470T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2470 chr17 64041518
chr17:64041544 C
C
 T
T
 1 a0001c0022t0033
a0001c0022t0033
 1 HG02486.hp2
HG02486.hp2
 3_prime_UTR_variant MODIFIER c.*2444G>A
c.*2444G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2444 chr17 64041544
chr17:64041782 C
C
 T
T
 9 a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
others(6): Show 
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0024
a0001c0006t0007
a0001c0006t0025
a0003c0019t0008
a0006c0010t0022
a0006c0010t0023
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02896.hp1
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*2206G>A
c.*2206G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2206 chr17 64041782
chr17:64041791 A
A
 G
G
 1 a0001c0001t0027
a0001c0001t0027
 1 NA21309.hp2
NA21309.hp2
 3_prime_UTR_variant MODIFIER c.*2197T>C
c.*2197T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2197 chr17 64041791
chr17:64041797 G
G
 A
A
 10 a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
others(7): Show 
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0015
a0001c0002t0024
a0001c0006t0007
a0001c0006t0025
a0003c0019t0008
a0006c0010t0022
a0006c0010t0023
 26 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(23): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*2191C>T
c.*2191C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2191 chr17 64041797
chr17:64041811 T
T
 C
C
 4 a0001c0002t0012
a0001c0022t0033
a0005c0011t0012
others(1): Show 
a0001c0002t0012
a0001c0022t0033
a0005c0011t0012
a0007c0013t0014
 6 HG01884.hp1
HG01884.hp2
HG02486.hp2
others(3): Show 
HG01884.hp1
HG01884.hp2
HG02486.hp2
HG03209.hp2
HG03516.hp2
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*2177A>G
c.*2177A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2177 chr17 64041811
chr17:64041931 G
G
 C
C
 1 a0001c0001t0009
a0001c0001t0009
 5 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(2): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
NA18906.hp1
 3_prime_UTR_variant MODIFIER c.*2057C>G
c.*2057C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2057 chr17 64041931
chr17:64042029 T
T
 G
G
 48 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(45): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0001c0022t0033
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0004c0012t0037
a0004c0012t0038
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 214 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(211): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1959A>C
c.*1959A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1959 chr17 64042029
chr17:64042195 C
C
 T
T
 30 a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
others(27): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0032
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0015
a0001c0002t0024
a0001c0006t0007
a0001c0006t0025
a0001c0009t0002
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0006c0010t0022
a0006c0010t0023
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 124 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(121): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1793G>A
c.*1793G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1793 chr17 64042195
chr17:64042241 G
G
 A
A
 44 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(41): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0013
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0004t0035
a0001c0004t0036
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 208 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(205): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1747C>T
c.*1747C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1747 chr17 64042241
chr17:64042452 A
A
 G
G
 1 a0001c0001t0026
a0001c0001t0026
 1 NA18941.hp2
NA18941.hp2
 3_prime_UTR_variant MODIFIER c.*1536T>C
c.*1536T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1536 chr17 64042452
chr17:64042500 C
C
 T
T
 46 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(43): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0001c0022t0033
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 212 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(209): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1488G>A
c.*1488G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1488 chr17 64042500
chr17:64042685 A
A
 G
G
 24 a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
others(21): Show 
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0003t0004
a0001c0003t0019
a0001c0009t0002
a0001c0018t0004
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0020t0003
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 117 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(114): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1303T>C
c.*1303T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1303 chr17 64042685
chr17:64042689 AT
AT
 A
A
 5 a0001c0002t0006
a0001c0002t0015
a0001c0002t0024
others(2): Show 
a0001c0002t0006
a0001c0002t0015
a0001c0002t0024
a0006c0010t0022
a0006c0010t0023
 14 HG00733.hp2
HG01069.hp1
HG01109.hp2
others(11): Show 
HG00733.hp2
HG01069.hp1
HG01109.hp2
HG01515.hp1
HG02647.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
 3_prime_UTR_variant MODIFIER c.*1298delA
c.*1298delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1298 chr17 64042689
chr17:64042690 T
T
 A
A
 6 a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
others(3): Show 
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0006t0007
a0001c0006t0025
a0003c0019t0008
 15 HG00741.hp1
HG01081.hp1
HG01123.hp2
others(12): Show 
HG00741.hp1
HG01081.hp1
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01516.hp2
HG02559.hp1
HG02723.hp2
HG02809.hp1
HG02896.hp1
HG03130.hp1
HG03225.hp2
NA19240.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*1298A>T
c.*1298A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1298 chr17 64042690
chr17:64042789 A
A
 ACT
ACT
 3 a0001c0022t0033
a0004c0012t0037
a0004c0012t0038
a0001c0022t0033
a0004c0012t0037
a0004c0012t0038
 3 HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
 3_prime_UTR_variant MODIFIER c.*1198_*1199insAG
c.*1198_*1199insAG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1198 chr17 64042789
chr17:64042845 G
G
 A
A
 1 a0001c0001t0032
a0001c0001t0032
 1 HG02523.hp1
HG02523.hp1
 3_prime_UTR_variant MODIFIER c.*1143C>T
c.*1143C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1143 chr17 64042845
chr17:64042981 A
A
 T
T
 45 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(42): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 211 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(208): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*1007T>A
c.*1007T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1007 chr17 64042981
chr17:64042984 C
C
 T
T
 2 a0001c0001t0016
a0011c0023t0016
a0001c0001t0016
a0011c0023t0016
 2 HG01099.hp2
HG01346.hp2
HG01099.hp2
HG01346.hp2
 3_prime_UTR_variant MODIFIER c.*1004G>A
c.*1004G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 1004 chr17 64042984
chr17:64043080 G
G
 A
A
 1 a0001c0006t0025
a0001c0006t0025
 1 NA20805.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*908C>T
c.*908C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 908 chr17 64043080
chr17:64043209 C
C
 T
T
 19 a0001c0001t0001
a0001c0002t0001
a0001c0002t0006
others(16): Show 
a0001c0001t0001
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0003c0019t0008
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
 91 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(88): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02451.hp1
HG02559.hp1
HG02572.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20805.hp1
 3_prime_UTR_variant MODIFIER c.*779G>A
c.*779G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 779 chr17 64043209
chr17:64043243 C
C
 T
T
 3 a0001c0003t0004
a0001c0003t0019
a0001c0018t0004
a0001c0003t0004
a0001c0003t0019
a0001c0018t0004
 18 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(15): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 3_prime_UTR_variant MODIFIER c.*745G>A
c.*745G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 745 chr17 64043243
chr17:64043328 G
G
 C
C
 2 a0001c0002t0012
a0005c0011t0012
a0001c0002t0012
a0005c0011t0012
 3 HG01884.hp2
HG03209.hp2
HG03516.hp2
HG01884.hp2
HG03209.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*660C>G
c.*660C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 660 chr17 64043328
chr17:64043373 A
A
 G
G
 49 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(46): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0001c0022t0033
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0004c0012t0037
a0004c0012t0038
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*615T>C
c.*615T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 615 chr17 64043373
chr17:64043388 A
A
 G
G
 49 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(46): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0010
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0001c0022t0033
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0004c0012t0037
a0004c0012t0038
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*600T>C
c.*600T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 600 chr17 64043388
chr17:64043483 C
C
 T
T
 48 a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
others(45): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0003
a0001c0001t0009
a0001c0001t0016
a0001c0001t0017
a0001c0001t0020
a0001c0001t0026
a0001c0001t0027
a0001c0001t0028
a0001c0001t0029
a0001c0001t0030
a0001c0001t0031
a0001c0001t0032
a0001c0002t0001
a0001c0002t0006
a0001c0002t0007
a0001c0002t0008
a0001c0002t0011
a0001c0002t0012
a0001c0002t0013
a0001c0002t0015
a0001c0002t0021
a0001c0002t0024
a0001c0002t0039
a0001c0003t0004
a0001c0003t0019
a0001c0005t0001
a0001c0006t0007
a0001c0006t0025
a0001c0007t0001
a0001c0009t0002
a0001c0018t0004
a0001c0022t0033
a0002c0008t0003
a0002c0008t0034
a0002c0017t0003
a0003c0019t0008
a0003c0020t0003
a0004c0012t0037
a0004c0012t0038
a0005c0011t0012
a0006c0010t0022
a0006c0010t0023
a0007c0013t0014
a0009c0015t0002
a0010c0016t0002
a0011c0023t0016
 214 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(211): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*505G>A
c.*505G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 505 chr17 64043483
chr17:64043511 G
G
 A
A
 1 a0002c0008t0034
a0002c0008t0034
 1 HG01361.hp2
HG01361.hp2
 3_prime_UTR_variant MODIFIER c.*477C>T
c.*477C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 477 chr17 64043511
chr17:64043569 C
C
 T
T
 1 a0001c0001t0020
a0001c0001t0020
 1 HG01981.hp1
HG01981.hp1
 3_prime_UTR_variant MODIFIER c.*419G>A
c.*419G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 419 chr17 64043569
chr17:64043629 C
C
 T
T
 1 a0001c0003t0019
a0001c0003t0019
 1 HG02965.hp1
HG02965.hp1
 3_prime_UTR_variant MODIFIER c.*359G>A
c.*359G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 359 chr17 64043629
chr17:64043647 T
T
 C
C
 1 a0001c0004t0036
a0001c0004t0036
 1 NA20300.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*341A>G
c.*341A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 341 chr17 64043647
chr17:64043986 G
G
 A
A
 4 a0001c0004t0018
a0001c0004t0035
a0001c0004t0036
others(1): Show 
a0001c0004t0018
a0001c0004t0035
a0001c0004t0036
a0001c0021t0018
 4 HG01891.hp2
HG01934.hp1
HG02818.hp1
others(1): Show 
HG01891.hp2
HG01934.hp1
HG02818.hp1
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*2C>T
c.*2C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 22/22 2 chr17 64043986
chr17:64130100 G
G
 A
A
 2 a0004c0012t0037
a0004c0012t0038
a0004c0012t0037
a0004c0012t0038
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 5_prime_UTR_premature_start_codon_gain_variant LOW c.-71C>T
c.-71C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/22 chr17 64130100
chr17:64130121 C
C
 A
A
 1 a0001c0002t0039
a0001c0002t0039
 1 NA19030.hp1
NA19030.hp1
 5_prime_UTR_variant MODIFIER c.-92G>T
c.-92G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/22 92 chr17 64130121

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
chr17:64044293 C
C
 A
A
 1 a0001c0001t0003g0185
a0001c0001t0003g0185
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.2722-93G>T
c.2722-93G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044293
chr17:64044329 A
A
 G
G
 5 a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
others(2): Show 
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
 5 HG02280.hp2
HG02559.hp2
HG02970.hp2
others(2): Show 
HG02280.hp2
HG02559.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
 intron_variant MODIFIER c.2722-129T>C
c.2722-129T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044329
chr17:64044427 G
G
 T
T
 66 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(63): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0007c0013t0014g0157
a0007c0013t0014g0158
 67 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(64): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01928.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.2722-227C>A
c.2722-227C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044427
chr17:64044522 T
T
 C
C
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2722-322A>G
c.2722-322A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044522
chr17:64044594 C
C
 T
T
 62 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(59): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0112
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 62 HG00408.hp1
HG00558.hp1
HG00738.hp1
others(59): Show 
HG00408.hp1
HG00558.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp2
HG02523.hp1
HG02738.hp2
HG03492.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18941.hp2
NA18954.hp1
NA18957.hp1
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2721+266G>A
c.2721+266G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044594
chr17:64044616 C
C
 A
A
 3 a0001c0002t0012g0135
a0005c0011t0012g0017
a0005c0011t0012g0124
a0001c0002t0012g0135
a0005c0011t0012g0017
a0005c0011t0012g0124
 3 HG01884.hp2
HG03209.hp2
HG03516.hp2
HG01884.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2721+244G>T
c.2721+244G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044616
chr17:64044643 T
T
 G
G
 5 a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
others(2): Show 
a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
 6 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(3): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02717.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.2721+217A>C
c.2721+217A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044643
chr17:64044737 G
G
 A
A
 3 a0001c0002t0012g0135
a0005c0011t0012g0017
a0005c0011t0012g0124
a0001c0002t0012g0135
a0005c0011t0012g0017
a0005c0011t0012g0124
 3 HG01884.hp2
HG03209.hp2
HG03516.hp2
HG01884.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2721+123C>T
c.2721+123C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044737
chr17:64044785 A
A
 G
G
 211 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(208): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 213 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(210): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2721+75T>C
c.2721+75T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044785
chr17:64044814 T
T
 A
A
 2 a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0152
a0001c0003t0004g0153
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.2721+46A>T
c.2721+46A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 21/21 chr17 64044814
chr17:64045091 A
A
 G
G
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2654-164T>C
c.2654-164T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 20/21 chr17 64045091
chr17:64045144 A
A
 G
G
 1 a0004c0012t0038g0230
a0004c0012t0038g0230
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.2653+215T>C
c.2653+215T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 20/21 chr17 64045144
chr17:64045280 G
G
 A
A
 1 a0001c0001t0002g0042
a0001c0001t0002g0042
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.2653+79C>T
c.2653+79C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 20/21 chr17 64045280
chr17:64045317 G
G
 A
A
 204 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(201): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 206 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(203): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2653+42C>T
c.2653+42C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 20/21 chr17 64045317
chr17:64045527 T
T
 C
C
 1 a0001c0001t0002g0104
a0001c0001t0002g0104
 1 NA20752.hp1
NA20752.hp1
 intron_variant MODIFIER c.2530-45A>G
c.2530-45A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045527
chr17:64045662 C
C
 T
T
 215 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(212): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 217 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(214): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2530-180G>A
c.2530-180G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045662
chr17:64045733 C
C
 T
T
 6 a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
others(3): Show 
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0111
a0001c0005t0001g0116
 6 HG00621.hp1
HG01934.hp2
HG02148.hp1
others(3): Show 
HG00621.hp1
HG01934.hp2
HG02148.hp1
NA18965.hp1
NA19011.hp2
NA20300.hp1
 intron_variant MODIFIER c.2530-251G>A
c.2530-251G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045733
chr17:64045856 C
C
 T
T
 1 a0001c0001t0002g0076
a0001c0001t0002g0076
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.2530-374G>A
c.2530-374G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045856
chr17:64045857 G
G
 A
A
 3 a0001c0001t0002g0091
a0001c0002t0001g0015
a0001c0002t0001g0123
a0001c0001t0002g0091
a0001c0002t0001g0015
a0001c0002t0001g0123
 3 HG01515.hp2
NA18978.hp2
NA19007.hp1
HG01515.hp2
NA18978.hp2
NA19007.hp1
 intron_variant MODIFIER c.2530-375C>T
c.2530-375C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045857
chr17:64045961 C
C
 T
T
 215 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(212): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 217 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(214): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2530-479G>A
c.2530-479G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64045961
chr17:64046360 G
G
 A
A
 1 a0004c0012t0037g0229
a0004c0012t0037g0229
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.2530-878C>T
c.2530-878C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046360
chr17:64046403 C
C
 T
T
 3 a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
 3 HG00639.hp1
HG02895.hp1
NA20129.hp2
HG00639.hp1
HG02895.hp1
NA20129.hp2
 intron_variant MODIFIER c.2530-921G>A
c.2530-921G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046403
chr17:64046405 T
T
 C
C
 1 a0001c0001t0031g0006
a0001c0001t0031g0006
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.2530-923A>G
c.2530-923A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046405
chr17:64046553 T
T
 C
C
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2530-1071A>G
c.2530-1071A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046553
chr17:64046622 G
G
 A
A
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2530-1140C>T
c.2530-1140C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046622
chr17:64046762 C
C
 T
T
 1 a0001c0002t0001g0074
a0001c0002t0001g0074
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.2529+1096G>A
c.2529+1096G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046762
chr17:64046824 C
C
 T
T
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.2529+1034G>A
c.2529+1034G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64046824
chr17:64047129 C
C
 T
T
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.2529+729G>A
c.2529+729G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047129
chr17:64047150 G
G
 A
A
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2529+708C>T
c.2529+708C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047150
chr17:64047223 G
G
 A
A
 212 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(209): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 214 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(211): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2529+635C>T
c.2529+635C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047223
chr17:64047571 T
T
 C
C
 1 a0001c0002t0008g0179
a0001c0002t0008g0179
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.2529+287A>G
c.2529+287A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047571
chr17:64047595 T
T
 C
C
 5 a0001c0022t0033g0155
a0004c0012t0037g0229
a0004c0012t0038g0230
others(2): Show 
a0001c0022t0033g0155
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
 5 HG02451.hp2
HG02486.hp1
HG02486.hp2
others(2): Show 
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2529+263A>G
c.2529+263A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047595
chr17:64047603 T
T
 C
C
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA18971.hp1
NA18971.hp1
 intron_variant MODIFIER c.2529+255A>G
c.2529+255A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047603
chr17:64047638 A
A
 G
G
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2529+220T>C
c.2529+220T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047638
chr17:64047832 T
T
 G
G
 2 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0007g0180
a0001c0002t0007g0181
 2 HG01081.hp1
HG01123.hp2
HG01081.hp1
HG01123.hp2
 intron_variant MODIFIER c.2529+26A>C
c.2529+26A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047832
chr17:64047847 G
G
 T
T
 1 a0001c0022t0033g0155
a0001c0022t0033g0155
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.2529+11C>A
c.2529+11C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047847
chr17:64047849 C
C
 T
T
 1 a0001c0001t0028g0161
a0001c0001t0028g0161
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.2529+9G>A
c.2529+9G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 19/21 chr17 64047849
chr17:64048051 T
T
 C
C
 3 a0001c0001t0002g0009
a0001c0001t0002g0040
a0001c0001t0002g0059
a0001c0001t0002g0009
a0001c0001t0002g0040
a0001c0001t0002g0059
 3 HG00741.hp2
HG04184.hp2
homoSapiens_chm13v2.hp1
HG00741.hp2
HG04184.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2402-66A>G
c.2402-66A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048051
chr17:64048065 C
C
 T
T
 3 a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
 3 HG01109.hp2
HG02647.hp1
HG06807.hp1
HG01109.hp2
HG02647.hp1
HG06807.hp1
 intron_variant MODIFIER c.2402-80G>A
c.2402-80G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048065
chr17:64048143 A
A
 T
T
 222 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(219): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 224 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2402-158T>A
c.2402-158T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048143
chr17:64048480 TATA
TATA
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.2402-498_2402-496d
others(5): Show 
c.2402-498_2402-496delTAT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048480
chr17:64048592 A
A
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.2401+463T>G
c.2401+463T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048592
chr17:64048729 G
G
 A
A
 4 a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
others(1): Show 
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 4 HG00280.hp2
HG01255.hp2
HG02145.hp2
others(1): Show 
HG00280.hp2
HG01255.hp2
HG02145.hp2
HG04184.hp1
 intron_variant MODIFIER c.2401+326C>T
c.2401+326C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048729
chr17:64048812 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2401+243T>C
c.2401+243T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048812
chr17:64048813 C
C
 CCA
CCA
 96 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(93): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 96 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2401+241_2401+242i
others(4): Show 
c.2401+241_2401+242insTG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048813
chr17:64048819 T
T
 C
C
 9 a0001c0001t0003g0053
a0001c0001t0003g0105
a0001c0001t0003g0185
others(6): Show 
a0001c0001t0003g0053
a0001c0001t0003g0105
a0001c0001t0003g0185
a0001c0001t0003g0198
a0001c0002t0001g0065
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
 9 HG01074.hp1
HG01361.hp2
HG01975.hp1
others(6): Show 
HG01074.hp1
HG01361.hp2
HG01975.hp1
HG01975.hp2
HG02300.hp1
NA18941.hp1
NA18967.hp2
NA18999.hp1
NA19065.hp2
 intron_variant MODIFIER c.2401+236A>G
c.2401+236A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048819
chr17:64048868 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.2401+187G>A
c.2401+187G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048868
chr17:64048869 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.2401+186C>T
c.2401+186C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048869
chr17:64048892 C
C
 T
T
 25 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(22): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
 25 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(22): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA20805.hp1
 intron_variant MODIFIER c.2401+163G>A
c.2401+163G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048892
chr17:64048979 G
G
 A
A
 3 a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
 3 HG00639.hp1
HG02895.hp1
NA20129.hp2
HG00639.hp1
HG02895.hp1
NA20129.hp2
 intron_variant MODIFIER c.2401+76C>T
c.2401+76C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 18/21 chr17 64048979
chr17:64049255 C
C
 T
T
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.2254-53G>A
c.2254-53G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64049255
chr17:64049624 C
C
 T
T
 96 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(93): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 96 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2254-422G>A
c.2254-422G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64049624
chr17:64050015 G
G
 T
T
 2 a0001c0001t0002g0085
a0001c0001t0002g0117
a0001c0001t0002g0085
a0001c0001t0002g0117
 2 NA18965.hp2
NA19091.hp2
NA18965.hp2
NA19091.hp2
 intron_variant MODIFIER c.2254-813C>A
c.2254-813C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050015
chr17:64050065 C
C
 T
T
 17 a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
others(14): Show 
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
 18 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(15): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.2254-863G>A
c.2254-863G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050065
chr17:64050146 G
G
 A
A
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2254-944C>T
c.2254-944C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050146
chr17:64050372 T
T
 C
C
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2254-1170A>G
c.2254-1170A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050372
chr17:64050461 G
G
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2254-1259C>T
c.2254-1259C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050461
chr17:64050801 C
C
 T
T
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2254-1599G>A
c.2254-1599G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64050801
chr17:64051157 G
G
 GA
GA
 94 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(91): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 94 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(91): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2253+1622dupT
c.2253+1622dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051157
chr17:64051371 G
G
 A
A
 1 a0001c0002t0001g0001
a0001c0002t0001g0001
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.2253+1409C>T
c.2253+1409C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051371
chr17:64051439 A
A
 G
G
 36 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(33): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0022t0033g0155
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
 36 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(33): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.2253+1341T>C
c.2253+1341T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051439
chr17:64051549 A
A
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.2253+1231T>A
c.2253+1231T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051549
chr17:64051589 A
A
 C
C
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.2253+1191T>G
c.2253+1191T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051589
chr17:64051639 T
T
 G
G
 1 a0001c0001t0002g0193
a0001c0001t0002g0193
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.2253+1141A>C
c.2253+1141A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051639
chr17:64051650 G
G
 C
C
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.2253+1130C>G
c.2253+1130C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051650
chr17:64051718 C
C
 T
T
 1 a0001c0002t0007g0180
a0001c0002t0007g0180
 1 HG01081.hp1
HG01081.hp1
 intron_variant MODIFIER c.2253+1062G>A
c.2253+1062G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051718
chr17:64051747 TAAAACCC
others(10): Show 
TAAAACCCAGTAGGTATC
 T
T
 4 a0001c0002t0001g0005
a0001c0002t0001g0023
a0001c0003t0004g0146
others(1): Show 
a0001c0002t0001g0005
a0001c0002t0001g0023
a0001c0003t0004g0146
a0001c0003t0004g0148
 4 HG02572.hp1
HG02809.hp2
HG03453.hp2
others(1): Show 
HG02572.hp1
HG02809.hp2
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.2253+1016_2253+103
others(21): Show 
c.2253+1016_2253+1032delGATACCTACTGGGTTTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64051747
chr17:64052152 A
A
 G
G
 2 a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0152
a0001c0003t0004g0153
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.2253+628T>C
c.2253+628T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052152
chr17:64052180 C
C
 T
T
 213 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(210): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 215 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2253+600G>A
c.2253+600G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052180
chr17:64052363 G
G
 C
C
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.2253+417C>G
c.2253+417C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052363
chr17:64052537 CA
CA
 C
C
 215 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(212): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 217 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(214): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2253+242delT
c.2253+242delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052537
chr17:64052549 A
A
 C
C
 1 a0001c0006t0025g0113
a0001c0006t0025g0113
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2253+231T>G
c.2253+231T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052549
chr17:64052683 G
G
 A
A
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.2253+97C>T
c.2253+97C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052683
chr17:64052769 C
C
 T
T
 32 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(29): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0022t0033g0155
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
 32 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(29): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA18906.hp1
NA20805.hp1
 intron_variant MODIFIER c.2253+11G>A
c.2253+11G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 17/21 chr17 64052769
chr17:64053029 G
G
 GCCT
GCCT
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.2054-53_2054-51dup
others(3): Show 
c.2054-53_2054-51dupAGG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 16/21 chr17 64053029
chr17:64053118 C
C
 T
T
 1 a0001c0006t0025g0113
a0001c0006t0025g0113
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.2054-139G>A
c.2054-139G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 16/21 chr17 64053118
chr17:64053191 A
A
 C
C
 18 a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
others(15): Show 
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0001c0021t0018g0150
 19 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(16): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG01934.hp1
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.2053+81T>G
c.2053+81T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 16/21 chr17 64053191
chr17:64053577 T
T
 C
C
 113 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(110): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 114 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(111): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1954-206A>G
c.1954-206A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053577
chr17:64053864 CT
CT
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1953+385delA
c.1953+385delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053864
chr17:64053887 T
T
 C
C
 1 a0001c0001t0028g0161
a0001c0001t0028g0161
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.1953+363A>G
c.1953+363A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053887
chr17:64053932 A
A
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1953+318T>C
c.1953+318T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053932
chr17:64053950 T
T
 A
A
 215 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(212): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 217 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(214): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1953+300A>T
c.1953+300A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053950
chr17:64053963 G
G
 A
A
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.1953+287C>T
c.1953+287C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64053963
chr17:64054035 G
G
 C
C
 3 a0001c0001t0002g0033
a0001c0001t0002g0084
a0010c0016t0002g0008
a0001c0001t0002g0033
a0001c0001t0002g0084
a0010c0016t0002g0008
 3 NA18957.hp1
NA18978.hp1
NA18982.hp1
NA18957.hp1
NA18978.hp1
NA18982.hp1
 intron_variant MODIFIER c.1953+215C>G
c.1953+215C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64054035
chr17:64054080 C
C
 T
T
 1 a0001c0001t0002g0212
a0001c0001t0002g0212
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1953+170G>A
c.1953+170G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64054080
chr17:64054085 A
A
 G
G
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1953+165T>C
c.1953+165T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 15/21 chr17 64054085
chr17:64054454 G
G
 A
A
 17 a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
others(14): Show 
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
 18 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(15): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.1764-15C>T
c.1764-15C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 14/21 chr17 64054454
chr17:64054614 C
C
 T
T
 1 a0004c0012t0038g0230
a0004c0012t0038g0230
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.1763+124G>A
c.1763+124G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 14/21 chr17 64054614
chr17:64054916 C
C
 A
A
 1 a0001c0001t0017g0067
a0001c0001t0017g0067
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1673-88G>T
c.1673-88G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054916
chr17:64054919 A
A
 C
C
 1 a0001c0001t0017g0067
a0001c0001t0017g0067
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1673-91T>G
c.1673-91T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054919
chr17:64054923 A
A
 C
C
 1 a0001c0001t0017g0067
a0001c0001t0017g0067
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1673-95T>G
c.1673-95T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054923
chr17:64054924 A
A
 C
C
 1 a0001c0001t0017g0067
a0001c0001t0017g0067
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1673-96T>G
c.1673-96T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054924
chr17:64054925 A
A
 T
T
 1 a0001c0001t0017g0067
a0001c0001t0017g0067
 1 NA18954.hp1
NA18954.hp1
 intron_variant MODIFIER c.1673-97T>A
c.1673-97T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054925
chr17:64054949 C
C
 T
T
 213 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(210): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 215 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1673-121G>A
c.1673-121G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054949
chr17:64054970 G
G
 A
A
 64 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(61): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0007c0013t0014g0157
a0007c0013t0014g0158
 65 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(62): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1673-142C>T
c.1673-142C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64054970
chr17:64055020 T
T
 C
C
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1673-192A>G
c.1673-192A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055020
chr17:64055168 A
A
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1673-340T>G
c.1673-340T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055168
chr17:64055190 G
G
 A
A
 1 a0003c0020t0003g0022
a0003c0020t0003g0022
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1673-362C>T
c.1673-362C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055190
chr17:64055201 T
T
 C
C
 1 a0002c0008t0034g0188
a0002c0008t0034g0188
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.1673-373A>G
c.1673-373A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055201
chr17:64055210 C
C
 T
T
 1 a0001c0007t0001g0036
a0001c0007t0001g0036
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.1673-382G>A
c.1673-382G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055210
chr17:64055318 G
G
 A
A
 213 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(210): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 215 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1672+357C>T
c.1672+357C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055318
chr17:64055597 C
C
 CTTA
CTTA
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1672+75_1672+77dup
others(3): Show 
c.1672+75_1672+77dupTAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 13/21 chr17 64055597
chr17:64056015 G
G
 A
A
 1 a0008c0014t0005g0211
a0008c0014t0005g0211
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.1399-67C>T
c.1399-67C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056015
chr17:64056037 G
G
 T
T
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.1399-89C>A
c.1399-89C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056037
chr17:64056063 C
C
 A
A
 2 a0006c0010t0022g0122
a0006c0010t0023g0121
a0006c0010t0022g0122
a0006c0010t0023g0121
 2 HG01069.hp1
HG01515.hp1
HG01069.hp1
HG01515.hp1
 intron_variant MODIFIER c.1399-115G>T
c.1399-115G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056063
chr17:64056128 T
T
 A
A
 28 a0001c0001t0003g0053
a0001c0001t0003g0080
a0001c0001t0003g0105
others(25): Show 
a0001c0001t0003g0053
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0115
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0027g0071
a0001c0002t0001g0065
a0001c0002t0001g0195
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
 28 HG00280.hp1
HG00408.hp2
HG00639.hp1
others(25): Show 
HG00280.hp1
HG00408.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG01074.hp1
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG01975.hp2
HG02155.hp1
HG02300.hp1
HG02523.hp2
HG02895.hp1
HG03704.hp2
HG03834.hp2
NA18747.hp2
NA18941.hp1
NA18954.hp2
NA18967.hp2
NA18977.hp1
NA18999.hp1
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA20129.hp2
NA21309.hp2
 intron_variant MODIFIER c.1399-180A>T
c.1399-180A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056128
chr17:64056198 G
G
 A
A
 1 a0001c0001t0031g0006
a0001c0001t0031g0006
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.1399-250C>T
c.1399-250C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056198
chr17:64056395 G
G
 A
A
 1 a0001c0001t0003g0080
a0001c0001t0003g0080
 1 HG00639.hp2
HG00639.hp2
 intron_variant MODIFIER c.1399-447C>T
c.1399-447C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056395
chr17:64056396 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1399-448G>A
c.1399-448G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056396
chr17:64056517 G
G
 A
A
 36 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(33): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0022t0033g0155
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
 36 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(33): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.1399-569C>T
c.1399-569C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056517
chr17:64056696 G
G
 A
A
 94 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(91): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 94 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(91): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1399-748C>T
c.1399-748C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056696
chr17:64056756 C
C
 T
T
 1 a0001c0001t0002g0024
a0001c0001t0002g0024
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.1399-808G>A
c.1399-808G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64056756
chr17:64057272 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1398+530T>C
c.1398+530T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057272
chr17:64057273 C
C
 G
G
 2 a0001c0001t0009g0127
a0001c0001t0009g0133
a0001c0001t0009g0127
a0001c0001t0009g0133
 2 HG02257.hp2
HG02622.hp2
HG02257.hp2
HG02622.hp2
 intron_variant MODIFIER c.1398+529G>C
c.1398+529G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057273
chr17:64057287 C
C
 T
T
 1 a0001c0001t0003g0190
a0001c0001t0003g0190
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1398+515G>A
c.1398+515G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057287
chr17:64057339 A
A
 G
G
 1 a0001c0002t0006g0178
a0001c0002t0006g0178
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.1398+463T>C
c.1398+463T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057339
chr17:64057361 TTTC
TTTC
 T
T
 213 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(210): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 215 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398+438_1398+440d
others(5): Show 
c.1398+438_1398+440delGAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057361
chr17:64057368 T
T
 C
C
 213 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(210): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 215 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(212): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398+434A>G
c.1398+434A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057368
chr17:64057383 TCTTGCTC
others(6): Show 
TCTTGCTCTGTCGC
 T
T
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1398+406_1398+418d
others(15): Show 
c.1398+406_1398+418delGCGACAGAGCAAG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057383
chr17:64057408 G
G
 A
A
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.1398+394C>T
c.1398+394C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057408
chr17:64057469 C
C
 G
G
 1 a0001c0001t0002g0091
a0001c0001t0002g0091
 1 HG01515.hp2
HG01515.hp2
 intron_variant MODIFIER c.1398+333G>C
c.1398+333G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 12/21 chr17 64057469
chr17:64058014 G
G
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1207-21C>T
c.1207-21C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058014
chr17:64058085 G
G
 C
C
 1 a0001c0001t0002g0097
a0001c0001t0002g0097
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.1207-92C>G
c.1207-92C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058085
chr17:64058120 T
T
 A
A
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.1207-127A>T
c.1207-127A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058120
chr17:64058264 T
T
 C
C
 1 a0001c0002t0001g0020
a0001c0002t0001g0020
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.1207-271A>G
c.1207-271A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058264
chr17:64058300 A
A
 G
G
 4 a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
others(1): Show 
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
 4 HG02451.hp2
HG02486.hp1
HG03209.hp2
others(1): Show 
HG02451.hp2
HG02486.hp1
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1207-307T>C
c.1207-307T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058300
chr17:64058324 A
A
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1207-331T>C
c.1207-331T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058324
chr17:64058326 T
T
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1207-333A>G
c.1207-333A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058326
chr17:64058481 T
T
 C
C
 17 a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
others(14): Show 
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
 18 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(15): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18906.hp2
 intron_variant MODIFIER c.1207-488A>G
c.1207-488A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058481
chr17:64058548 C
C
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1207-555G>C
c.1207-555G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058548
chr17:64058558 G
G
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1207-565C>T
c.1207-565C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058558
chr17:64058869 T
T
 C
C
 121 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0003g0162
others(118): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0022t0033g0155
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
 123 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(120): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1207-876A>G
c.1207-876A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058869
chr17:64058884 C
C
 G
G
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1207-891G>C
c.1207-891G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058884
chr17:64058886 C
C
 T
T
 66 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0030g0182
others(63): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0007c0013t0014g0157
a0007c0013t0014g0158
 67 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(64): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1207-893G>A
c.1207-893G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058886
chr17:64058916 T
T
 C
C
 37 a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
others(34): Show 
a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0022t0033g0155
a0003c0019t0008g0154
a0006c0010t0022g0122
a0006c0010t0023g0121
 37 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(34): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG06807.hp1
NA18906.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1207-923A>G
c.1207-923A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058916
chr17:64058927 C
C
 T
T
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1207-934G>A
c.1207-934G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64058927
chr17:64059014 G
G
 A
A
 1 a0003c0020t0003g0022
a0003c0020t0003g0022
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.1207-1021C>T
c.1207-1021C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059014
chr17:64059027 A
A
 G
G
 3 a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0134
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0134
 3 NA18977.hp2
NA19065.hp1
NA19091.hp1
NA18977.hp2
NA19065.hp1
NA19091.hp1
 intron_variant MODIFIER c.1207-1034T>C
c.1207-1034T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059027
chr17:64059108 G
G
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1207-1115C>A
c.1207-1115C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059108
chr17:64059136 T
T
 C
C
 2 a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0017g0067
a0001c0001t0017g0087
 2 HG00558.hp1
NA18954.hp1
HG00558.hp1
NA18954.hp1
 intron_variant MODIFIER c.1207-1143A>G
c.1207-1143A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059136
chr17:64059224 G
G
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1207-1231C>T
c.1207-1231C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059224
chr17:64059318 G
G
 A
A
 31 a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0133
others(28): Show 
a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0133
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 31 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(28): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02257.hp2
HG02559.hp1
HG02622.hp2
HG02647.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA19240.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1206+1151C>T
c.1206+1151C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059318
chr17:64059380 G
G
 A
A
 5 a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
others(2): Show 
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0023
a0001c0002t0001g0170
 5 HG02257.hp1
HG02451.hp1
HG02572.hp1
others(2): Show 
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02809.hp2
HG02976.hp1
 intron_variant MODIFIER c.1206+1089C>T
c.1206+1089C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059380
chr17:64059509 G
G
 A
A
 1 a0004c0012t0037g0229
a0004c0012t0037g0229
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.1206+960C>T
c.1206+960C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059509
chr17:64059729 C
C
 CCCTCT
CCCTCT
 4 a0001c0002t0001g0012
a0001c0002t0001g0065
a0001c0002t0001g0066
others(1): Show 
a0001c0002t0001g0012
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0126
 4 HG01975.hp2
HG01978.hp2
HG01981.hp2
others(1): Show 
HG01975.hp2
HG01978.hp2
HG01981.hp2
NA19084.hp2
 intron_variant MODIFIER c.1206+735_1206+739d
others(7): Show 
c.1206+735_1206+739dupAGAGG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059729
chr17:64059848 AT
AT
 A
A
 25 a0001c0001t0009g0127
a0001c0001t0009g0130
a0001c0001t0009g0133
others(22): Show 
a0001c0001t0009g0127
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0023
a0001c0002t0001g0032
a0001c0002t0001g0046
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0073
a0001c0002t0001g0126
a0001c0002t0006g0132
a0001c0003t0004g0152
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0019g0207
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0007t0001g0037
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
 25 HG00558.hp2
HG01243.hp2
HG01975.hp2
others(22): Show 
HG00558.hp2
HG01243.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02135.hp1
HG02145.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02809.hp2
HG02965.hp1
HG03209.hp2
HG03471.hp2
HG03516.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA19011.hp2
NA19030.hp2
 intron_variant MODIFIER c.1206+620delA
c.1206+620delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059848
chr17:64059848 ATT
ATT
 A
A
 68 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0003g0151
others(65): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0030g0182
a0001c0002t0001g0001
a0001c0002t0001g0011
a0001c0002t0001g0015
a0001c0002t0001g0020
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0175
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0138
a0001c0002t0013g0204
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0153
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0005t0001g0013
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0003c0019t0008g0154
a0007c0013t0014g0158
 70 HG00280.hp2
HG00621.hp1
HG00621.hp2
others(67): Show 
HG00280.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG01934.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02559.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19030.hp1
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.1206+619_1206+620d
others(4): Show 
c.1206+619_1206+620delAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059848
chr17:64059848 ATTT
ATTT
 A
A
 31 a0001c0001t0002g0064
a0001c0001t0002g0081
a0001c0001t0003g0053
others(28): Show 
a0001c0001t0002g0064
a0001c0001t0002g0081
a0001c0001t0003g0053
a0001c0001t0003g0162
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0012g0135
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
a0010c0016t0002g0008
 31 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(28): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp1
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp2
HG02559.hp1
HG02647.hp1
HG02809.hp1
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp2
HG03130.hp1
HG03225.hp2
HG03490.hp1
HG06807.hp1
NA18967.hp2
NA18978.hp1
NA18999.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.1206+618_1206+620d
others(5): Show 
c.1206+618_1206+620delAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059848
chr17:64059848 ATTTT
ATTTT
 A
A
 82 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(79): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0032g0098
a0001c0002t0001g0195
a0001c0002t0008g0179
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0011c0023t0016g0051
 82 HG00408.hp1
HG00408.hp2
HG00558.hp1
others(79): Show 
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02723.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1206+617_1206+620d
others(6): Show 
c.1206+617_1206+620delAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059848
chr17:64059928 C
C
 T
T
 7 a0001c0002t0006g0028
a0001c0002t0006g0169
a0001c0002t0008g0166
others(4): Show 
a0001c0002t0006g0028
a0001c0002t0006g0169
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
 7 HG00733.hp2
HG02559.hp1
HG02723.hp2
others(4): Show 
HG00733.hp2
HG02559.hp1
HG02723.hp2
HG02818.hp2
HG03130.hp1
HG03225.hp2
HG03490.hp1
 intron_variant MODIFIER c.1206+541G>A
c.1206+541G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64059928
chr17:64060096 C
C
 T
T
 1 a0001c0002t0010g0216
a0001c0002t0010g0216
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1206+373G>A
c.1206+373G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64060096
chr17:64060172 C
C
 T
T
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1206+297G>A
c.1206+297G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64060172
chr17:64060188 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1206+281G>A
c.1206+281G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64060188
chr17:64060242 T
T
 C
C
 21 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
others(18): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0004c0012t0037g0229
a0004c0012t0038g0230
 22 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(19): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.1206+227A>G
c.1206+227A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 11/21 chr17 64060242
chr17:64060698 T
T
 C
C
 1 a0001c0002t0001g0052
a0001c0002t0001g0052
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.1088-111A>G
c.1088-111A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060698
chr17:64060712 T
T
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1088-125A>T
c.1088-125A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060712
chr17:64060727 G
G
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.1088-140C>T
c.1088-140C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060727
chr17:64060821 G
G
 C
C
 1 a0001c0001t0003g0190
a0001c0001t0003g0190
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.1088-234C>G
c.1088-234C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060821
chr17:64060875 G
G
 A
A
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.1088-288C>T
c.1088-288C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060875
chr17:64060919 T
T
 C
C
 1 a0001c0001t0002g0212
a0001c0001t0002g0212
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.1088-332A>G
c.1088-332A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64060919
chr17:64061061 G
G
 A
A
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.1088-474C>T
c.1088-474C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061061
chr17:64061129 T
T
 C
C
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1088-542A>G
c.1088-542A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061129
chr17:64061312 G
G
 A
A
 194 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(191): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 195 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(192): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1088-725C>T
c.1088-725C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061312
chr17:64061538 C
C
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1088-951G>T
c.1088-951G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061538
chr17:64061680 G
G
 A
A
 1 a0001c0001t0002g0042
a0001c0001t0002g0042
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.1088-1093C>T
c.1088-1093C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061680
chr17:64061756 A
A
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1088-1169T>C
c.1088-1169T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64061756
chr17:64062014 G
G
 A
A
 1 a0001c0001t0003g0199
a0001c0001t0003g0199
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.1088-1427C>T
c.1088-1427C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062014
chr17:64062206 T
T
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.1088-1619A>C
c.1088-1619A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062206
chr17:64062227 C
C
 T
T
 3 a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
 3 HG01106.hp1
HG02148.hp2
NA19043.hp1
HG01106.hp1
HG02148.hp2
NA19043.hp1
 intron_variant MODIFIER c.1088-1640G>A
c.1088-1640G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062227
chr17:64062790 C
C
 T
T
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.1087+1196G>A
c.1087+1196G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062790
chr17:64062813 C
C
 G
G
 1 a0005c0011t0012g0017
a0005c0011t0012g0017
 1 HG03516.hp2
HG03516.hp2
 intron_variant MODIFIER c.1087+1173G>C
c.1087+1173G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062813
chr17:64062813 C
C
 T
T
 4 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
 4 HG01255.hp1
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01255.hp1
HG02055.hp1
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.1087+1173G>A
c.1087+1173G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062813
chr17:64062833 T
T
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1087+1153A>G
c.1087+1153A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062833
chr17:64062859 A
A
 G
G
 1 a0001c0002t0010g0216
a0001c0002t0010g0216
 1 HG02280.hp2
HG02280.hp2
 intron_variant MODIFIER c.1087+1127T>C
c.1087+1127T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062859
chr17:64062963 TACCTGGT
others(3): Show 
TACCTGGTTAC
 T
T
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.1087+1013_1087+102
others(14): Show 
c.1087+1013_1087+1022delGTAACCAGGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64062963
chr17:64063032 T
T
 C
C
 10 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(7): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0002t0021g0219
a0001c0022t0033g0155
a0005c0011t0012g0017
a0005c0011t0012g0124
 10 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(7): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03209.hp2
HG03471.hp2
HG03516.hp2
HG03540.hp2
NA18906.hp1
 intron_variant MODIFIER c.1087+954A>G
c.1087+954A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063032
chr17:64063168 C
C
 T
T
 6 a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
others(3): Show 
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
 6 HG01109.hp2
HG02647.hp1
HG02965.hp2
others(3): Show 
HG01109.hp2
HG02647.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.1087+818G>A
c.1087+818G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063168
chr17:64063169 G
G
 A
A
 5 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(2): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0039g0231
 5 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(2): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.1087+817C>T
c.1087+817C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063169
chr17:64063322 C
C
 T
T
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.1087+664G>A
c.1087+664G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063322
chr17:64063560 T
T
 A
A
 1 a0001c0001t0003g0203
a0001c0001t0003g0203
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.1087+426A>T
c.1087+426A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063560
chr17:64063600 C
C
 A
A
 5 a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
others(2): Show 
a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
 6 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(3): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02717.hp2
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.1087+386G>T
c.1087+386G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063600
chr17:64063653 A
A
 G
G
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.1087+333T>C
c.1087+333T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063653
chr17:64063851 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.1087+135G>A
c.1087+135G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 10/21 chr17 64063851
chr17:64064336 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.922-185G>A
c.922-185G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64064336
chr17:64064444 A
A
 T
T
 20 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
others(17): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0001c0021t0018g0150
 21 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(18): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG01934.hp1
HG02258.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.922-293T>A
c.922-293T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64064444
chr17:64064495 C
C
 T
T
 1 a0001c0001t0002g0140
a0001c0001t0002g0140
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.922-344G>A
c.922-344G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64064495
chr17:64064728 G
G
 A
A
 1 a0001c0001t0003g0185
a0001c0001t0003g0185
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.921+481C>T
c.921+481C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64064728
chr17:64064979 T
T
 C
C
 222 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(219): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 224 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.921+230A>G
c.921+230A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64064979
chr17:64065186 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.921+23G>A
c.921+23G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 9/21 chr17 64065186
chr17:64065579 C
C
 T
T
 1 a0004c0012t0037g0229
a0004c0012t0037g0229
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.843-292G>A
c.843-292G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64065579
chr17:64065592 C
C
 T
T
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.843-305G>A
c.843-305G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64065592
chr17:64065620 G
G
 A
A
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA20805.hp1
 intron_variant MODIFIER c.843-333C>T
c.843-333C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64065620
chr17:64065640 T
T
 C
C
 20 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
others(17): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0001c0021t0018g0150
 21 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(18): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG01934.hp1
HG02258.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.843-353A>G
c.843-353A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64065640
chr17:64066012 C
C
 T
T
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.842+659G>A
c.842+659G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066012
chr17:64066114 G
G
 T
T
 1 a0001c0003t0004g0145
a0001c0003t0004g0145
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.842+557C>A
c.842+557C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066114
chr17:64066215 G
G
 T
T
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.842+456C>A
c.842+456C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066215
chr17:64066436 C
C
 G
G
 1 a0010c0016t0002g0008
a0010c0016t0002g0008
 1 NA18978.hp1
NA18978.hp1
 intron_variant MODIFIER c.842+235G>C
c.842+235G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066436
chr17:64066473 T
T
 G
G
 96 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(93): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 96 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03209.hp2
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.842+198A>C
c.842+198A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066473
chr17:64066532 A
A
 G
G
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.842+139T>C
c.842+139T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066532
chr17:64066593 G
G
 A
A
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.842+78C>T
c.842+78C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 8/21 chr17 64066593
chr17:64066984 C
C
 A
A
 63 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(60): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
 64 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(61): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.581-52G>T
c.581-52G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64066984
chr17:64067022 T
T
 G
G
 1 a0001c0002t0001g0044
a0001c0002t0001g0044
 1 HG00673.hp2
HG00673.hp2
 intron_variant MODIFIER c.581-90A>C
c.581-90A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067022
chr17:64067192 A
A
 C
C
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-260T>G
c.581-260T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067192
chr17:64067221 C
C
 T
T
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.581-289G>A
c.581-289G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067221
chr17:64067427 CA
CA
 C
C
 207 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(204): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 209 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(206): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.581-496delT
c.581-496delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067427
chr17:64067535 G
G
 C
C
 3 a0001c0001t0002g0060
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0060
a0001c0001t0002g0125
a0001c0001t0002g0140
 3 HG00408.hp1
HG02027.hp1
NA18973.hp1
HG00408.hp1
HG02027.hp1
NA18973.hp1
 intron_variant MODIFIER c.581-603C>G
c.581-603C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067535
chr17:64067552 G
G
 A
A
 9 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0006t0007g0102
others(6): Show 
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 9 HG00741.hp1
HG01069.hp1
HG01081.hp1
others(6): Show 
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
NA20805.hp1
 intron_variant MODIFIER c.581-620C>T
c.581-620C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067552
chr17:64067553 A
A
 G
G
 9 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0006t0007g0102
others(6): Show 
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 9 HG00741.hp1
HG01069.hp1
HG01081.hp1
others(6): Show 
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
NA20805.hp1
 intron_variant MODIFIER c.581-621T>C
c.581-621T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067553
chr17:64067561 C
C
 T
T
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0001c0021t0018g0150
 19 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(16): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG01934.hp1
HG02258.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.580+629G>A
c.580+629G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067561
chr17:64067606 C
C
 CA
CA
 123 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(120): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0031
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0002t0006g0132
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 124 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(121): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02155.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02886.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.580+583dupT
c.580+583dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067606
chr17:64067754 G
G
 C
C
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.580+436C>G
c.580+436C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067754
chr17:64067929 G
G
 C
C
 3 a0001c0002t0013g0204
a0001c0002t0013g0206
a0003c0019t0008g0154
a0001c0002t0013g0204
a0001c0002t0013g0206
a0003c0019t0008g0154
 3 HG02896.hp1
HG03098.hp2
HG03516.hp1
HG02896.hp1
HG03098.hp2
HG03516.hp1
 intron_variant MODIFIER c.580+261C>G
c.580+261C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067929
chr17:64067978 C
C
 T
T
 63 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(60): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
 64 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(61): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.580+212G>A
c.580+212G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 7/21 chr17 64067978
chr17:64068312 A
A
 G
G
 96 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(93): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 96 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03209.hp2
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.479-21T>C
c.479-21T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64068312
chr17:64068368 A
A
 G
G
 96 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(93): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 96 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(93): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03209.hp2
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.479-77T>C
c.479-77T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64068368
chr17:64069003 T
T
 C
C
 13 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(10): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0018t0004g0144
a0001c0021t0018g0150
 13 HG01243.hp2
HG01934.hp1
HG02630.hp1
others(10): Show 
HG01243.hp2
HG01934.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.479-712A>G
c.479-712A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069003
chr17:64069073 G
G
 T
T
 2 a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0152
a0001c0003t0004g0153
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.479-782C>A
c.479-782C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069073
chr17:64069120 T
T
 G
G
 2 a0001c0001t0002g0061
a0001c0001t0002g0109
a0001c0001t0002g0061
a0001c0001t0002g0109
 2 HG03834.hp1
HG06807.hp2
HG03834.hp1
HG06807.hp2
 intron_variant MODIFIER c.479-829A>C
c.479-829A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069120
chr17:64069138 G
G
 T
T
 55 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(52): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 56 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(53): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.479-847C>A
c.479-847C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069138
chr17:64069422 G
G
 A
A
 20 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
others(17): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0018t0004g0144
a0001c0021t0018g0150
 21 HG01069.hp2
HG01071.hp2
HG01243.hp2
others(18): Show 
HG01069.hp2
HG01071.hp2
HG01243.hp2
HG01934.hp1
HG02258.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.479-1131C>T
c.479-1131C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069422
chr17:64069444 G
G
 A
A
 66 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
others(63): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0007c0013t0014g0157
a0007c0013t0014g0158
 67 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(64): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.479-1153C>T
c.479-1153C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069444
chr17:64069544 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.479-1253G>A
c.479-1253G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069544
chr17:64069692 G
G
 C
C
 1 a0007c0013t0014g0157
a0007c0013t0014g0157
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.479-1401C>G
c.479-1401C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069692
chr17:64069832 G
G
 C
C
 113 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(110): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0195
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 114 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(111): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp2
HG02965.hp1
HG03098.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.479-1541C>G
c.479-1541C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069832
chr17:64069944 G
G
 T
T
 2 a0001c0002t0001g0046
a0001c0002t0001g0073
a0001c0002t0001g0046
a0001c0002t0001g0073
 2 HG00558.hp2
HG02135.hp1
HG00558.hp2
HG02135.hp1
 intron_variant MODIFIER c.479-1653C>A
c.479-1653C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64069944
chr17:64070004 G
G
 A
A
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.479-1713C>T
c.479-1713C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070004
chr17:64070046 T
T
 C
C
 1 a0001c0002t0006g0174
a0001c0002t0006g0174
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.479-1755A>G
c.479-1755A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070046
chr17:64070140 G
G
 A
A
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.478+1841C>T
c.478+1841C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070140
chr17:64070346 A
A
 T
T
 1 a0001c0001t0003g0054
a0001c0001t0003g0054
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.478+1635T>A
c.478+1635T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070346
chr17:64070363 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.478+1618T>C
c.478+1618T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070363
chr17:64070464 G
G
 A
A
 1 a0001c0001t0032g0098
a0001c0001t0032g0098
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.478+1517C>T
c.478+1517C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070464
chr17:64070530 C
C
 T
T
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.478+1451G>A
c.478+1451G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070530
chr17:64070560 T
T
 G
G
 12 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(9): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0168
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0022t0033g0155
 12 HG01346.hp1
HG01884.hp2
HG02055.hp2
others(9): Show 
HG01346.hp1
HG01884.hp2
HG02055.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.478+1421A>C
c.478+1421A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070560
chr17:64070705 A
A
 G
G
 23 a0001c0001t0003g0162
a0001c0002t0006g0028
a0001c0002t0006g0167
others(20): Show 
a0001c0001t0003g0162
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 23 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(20): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.478+1276T>C
c.478+1276T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64070705
chr17:64071049 T
T
 C
C
 2 a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0152
a0001c0003t0004g0153
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.478+932A>G
c.478+932A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64071049
chr17:64071268 A
A
 G
G
 4 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
 4 HG01255.hp1
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01255.hp1
HG02055.hp1
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.478+713T>C
c.478+713T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64071268
chr17:64071269 A
A
 T
T
 4 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
 4 HG01255.hp1
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01255.hp1
HG02055.hp1
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.478+712T>A
c.478+712T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64071269
chr17:64071355 C
C
 T
T
 2 a0001c0003t0004g0146
a0001c0003t0004g0148
a0001c0003t0004g0146
a0001c0003t0004g0148
 2 HG03453.hp2
HG03540.hp1
HG03453.hp2
HG03540.hp1
 intron_variant MODIFIER c.478+626G>A
c.478+626G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64071355
chr17:64071616 T
T
 C
C
 16 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(13): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0018t0004g0144
a0001c0021t0018g0150
 16 HG01243.hp2
HG01934.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.478+365A>G
c.478+365A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 6/21 chr17 64071616
chr17:64072203 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.356-100A>G
c.356-100A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64072203
chr17:64072445 C
C
 T
T
 1 a0001c0002t0039g0231
a0001c0002t0039g0231
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.356-342G>A
c.356-342G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64072445
chr17:64072466 A
A
 T
T
 1 a0001c0002t0006g0028
a0001c0002t0006g0028
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.356-363T>A
c.356-363T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64072466
chr17:64072927 A
A
 G
G
 1 a0001c0002t0012g0135
a0001c0002t0012g0135
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.356-824T>C
c.356-824T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64072927
chr17:64073004 A
A
 AT
AT
 35 a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
others(32): Show 
a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0002t0001g0011
a0001c0002t0001g0068
a0001c0002t0001g0168
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0003t0004g0160
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0022t0033g0155
a0004c0012t0037g0229
a0004c0012t0038g0230
a0006c0010t0022g0122
a0006c0010t0023g0121
 35 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(32): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02055.hp2
HG02145.hp1
HG02257.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02886.hp2
HG02965.hp2
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03540.hp2
HG06807.hp1
NA18906.hp1
NA18906.hp2
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.356-902dupA
c.356-902dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073004
chr17:64073004 AT
AT
 A
A
 92 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(89): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 92 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(89): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-902delA
c.356-902delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073004
chr17:64073028 CAG
CAG
 C
C
 4 a0001c0001t0002g0064
a0001c0001t0002g0107
a0002c0017t0003g0194
others(1): Show 
a0001c0001t0002g0064
a0001c0001t0002g0107
a0002c0017t0003g0194
a0009c0015t0002g0058
 4 HG01192.hp1
HG01928.hp2
HG02300.hp1
others(1): Show 
HG01192.hp1
HG01928.hp2
HG02300.hp1
HG02300.hp2
 intron_variant MODIFIER c.356-927_356-926del
others(2): Show 
c.356-927_356-926delCT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073028
chr17:64073272 G
G
 A
A
 1 a0001c0001t0003g0197
a0001c0001t0003g0197
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.356-1169C>T
c.356-1169C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073272
chr17:64073334 A
A
 AT
AT
 2 a0001c0001t0002g0056
a0001c0002t0001g0065
a0001c0001t0002g0056
a0001c0002t0001g0065
 2 HG01975.hp2
HG03710.hp1
HG01975.hp2
HG03710.hp1
 intron_variant MODIFIER c.356-1232_356-1231i
others(3): Show 
c.356-1232_356-1231insA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073334
chr17:64073334 A
A
 ATT
ATT
 77 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(74): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0040
a0001c0001t0002g0050
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0061
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0117
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0115
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0191
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 77 HG00280.hp1
HG00408.hp2
HG00558.hp1
others(74): Show 
HG00280.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG02027.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18978.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19065.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-1232_356-1231i
others(4): Show 
c.356-1232_356-1231insAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073334
chr17:64073334 A
A
 ATTT
ATTT
 14 a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0042
others(11): Show 
a0001c0001t0002g0021
a0001c0001t0002g0033
a0001c0001t0002g0042
a0001c0001t0002g0060
a0001c0001t0002g0064
a0001c0001t0002g0110
a0001c0001t0002g0125
a0001c0001t0003g0112
a0001c0001t0003g0183
a0001c0001t0003g0190
a0001c0001t0003g0192
a0001c0001t0020g0010
a0001c0001t0031g0006
a0002c0008t0034g0188
 14 HG00408.hp1
HG01192.hp1
HG01361.hp1
others(11): Show 
HG00408.hp1
HG01192.hp1
HG01361.hp1
HG01361.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp2
HG02055.hp1
HG02273.hp1
HG03942.hp1
NA18973.hp1
NA18982.hp1
NA19011.hp1
NA19066.hp2
 intron_variant MODIFIER c.356-1232_356-1231i
others(5): Show 
c.356-1232_356-1231insAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073334
chr17:64073335 A
A
 AT
AT
 21 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0129
others(18): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0129
a0001c0002t0001g0046
a0001c0002t0001g0073
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0004t0005g0205
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0006c0010t0023g0121
 21 HG00558.hp2
HG01515.hp1
HG01934.hp1
others(18): Show 
HG00558.hp2
HG01515.hp1
HG01934.hp1
HG02135.hp1
HG02572.hp2
HG02622.hp1
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG02886.hp2
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA20300.hp2
 intron_variant MODIFIER c.356-1233dupA
c.356-1233dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073335
chr17:64073335 A
A
 T
T
 95 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(92): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 95 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(92): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.356-1232T>A
c.356-1232T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073335
chr17:64073434 C
C
 G
G
 1 a0001c0002t0039g0231
a0001c0002t0039g0231
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.356-1331G>C
c.356-1331G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073434
chr17:64073551 G
G
 A
A
 2 a0001c0001t0003g0053
a0001c0001t0003g0105
a0001c0001t0003g0053
a0001c0001t0003g0105
 2 NA18967.hp2
NA19065.hp2
NA18967.hp2
NA19065.hp2
 intron_variant MODIFIER c.356-1448C>T
c.356-1448C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073551
chr17:64073664 C
C
 T
T
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.355+1511G>A
c.355+1511G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073664
chr17:64073704 G
G
 A
A
 2 a0001c0001t0003g0189
a0001c0001t0030g0182
a0001c0001t0003g0189
a0001c0001t0030g0182
 2 HG02135.hp2
HG02523.hp2
HG02135.hp2
HG02523.hp2
 intron_variant MODIFIER c.355+1471C>T
c.355+1471C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073704
chr17:64073764 T
T
 G
G
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0022t0033g0155
 7 HG02145.hp1
HG02257.hp2
HG02486.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.355+1411A>C
c.355+1411A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073764
chr17:64073771 G
G
 A
A
 1 a0001c0001t0002g0014
a0001c0001t0002g0014
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.355+1404C>T
c.355+1404C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073771
chr17:64073881 C
C
 A
A
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA20805.hp1
 intron_variant MODIFIER c.355+1294G>T
c.355+1294G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64073881
chr17:64074030 G
G
 A
A
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.355+1145C>T
c.355+1145C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64074030
chr17:64074205 G
G
 A
A
 1 a0001c0001t0002g0050
a0001c0001t0002g0050
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.355+970C>T
c.355+970C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64074205
chr17:64074632 C
C
 T
T
 2 a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0035g0165
a0001c0004t0036g0164
 2 HG02818.hp1
NA20300.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.355+543G>A
c.355+543G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64074632
chr17:64074744 C
C
 T
T
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.355+431G>A
c.355+431G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64074744
chr17:64074903 T
T
 C
C
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.355+272A>G
c.355+272A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64074903
chr17:64075058 C
C
 T
T
 3 a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
 3 HG01167.hp1
HG01243.hp1
HG01516.hp1
HG01167.hp1
HG01243.hp1
HG01516.hp1
 intron_variant MODIFIER c.355+117G>A
c.355+117G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 5/21 chr17 64075058
chr17:64075251 T
T
 TA
TA
 14 a0001c0001t0002g0056
a0001c0001t0009g0127
a0001c0001t0009g0128
others(11): Show 
a0001c0001t0002g0056
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0017g0067
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0009t0002g0062
a0001c0022t0033g0155
 14 HG01346.hp1
HG01516.hp1
HG01884.hp2
others(11): Show 
HG01346.hp1
HG01516.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02486.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
HG03710.hp1
NA18906.hp1
NA18954.hp1
NA19240.hp1
 splice_region_variant&intron_variant LOW c.283-5dupT
c.283-5dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075251
chr17:64075251 T
T
 TAA
TAA
 89 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(86): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0009t0002g0041
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 89 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(86): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA19240.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 splice_region_variant&intron_variant LOW c.283-6_283-5dupTT
c.283-6_283-5dupTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075251
chr17:64075260 A
A
 AAAAG
AAAAG
 16 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(13): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0018t0004g0144
a0001c0021t0018g0150
 16 HG01243.hp2
HG01934.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.283-14_283-13insCT
others(2): Show 
c.283-14_283-13insCTTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075260
chr17:64075414 G
G
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.283-167C>T
c.283-167C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075414
chr17:64075427 C
C
 T
T
 1 a0001c0004t0005g0227
a0001c0004t0005g0227
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.283-180G>A
c.283-180G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075427
chr17:64075708 G
G
 A
A
 1 a0001c0001t0002g0099
a0001c0001t0002g0099
 1 NA20129.hp1
NA20129.hp1
 intron_variant MODIFIER c.283-461C>T
c.283-461C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075708
chr17:64075871 G
G
 C
C
 74 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0030g0182
others(71): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0030g0182
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
 76 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(73): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.283-624C>G
c.283-624C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075871
chr17:64075942 G
G
 A
A
 2 a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0201
a0001c0001t0003g0202
 2 HG00639.hp1
NA20129.hp2
HG00639.hp1
NA20129.hp2
 intron_variant MODIFIER c.283-695C>T
c.283-695C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64075942
chr17:64076158 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.283-911G>A
c.283-911G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076158
chr17:64076235 T
T
 C
C
 1 a0001c0001t0003g0198
a0001c0001t0003g0198
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.283-988A>G
c.283-988A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076235
chr17:64076552 C
C
 G
G
 5 a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0103
others(2): Show 
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0103
a0001c0001t0002g0117
a0001c0001t0002g0141
 5 HG01123.hp1
NA18965.hp2
NA18971.hp1
others(2): Show 
HG01123.hp1
NA18965.hp2
NA18971.hp1
NA18971.hp2
NA19091.hp2
 intron_variant MODIFIER c.283-1305G>C
c.283-1305G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076552
chr17:64076591 T
T
 C
C
 1 a0001c0002t0001g0218
a0001c0002t0001g0218
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.283-1344A>G
c.283-1344A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076591
chr17:64076604 CT
CT
 C
C
 215 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(212): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 217 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(214): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.283-1358delA
c.283-1358delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076604
chr17:64076608 T
T
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.283-1361A>G
c.283-1361A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076608
chr17:64076614 T
T
 C
C
 15 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(12): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0018t0004g0144
 15 HG01243.hp2
HG02572.hp2
HG02630.hp1
others(12): Show 
HG01243.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.283-1367A>G
c.283-1367A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076614
chr17:64076704 A
A
 G
G
 15 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(12): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0018t0004g0144
 15 HG01243.hp2
HG02572.hp2
HG02630.hp1
others(12): Show 
HG01243.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.283-1457T>C
c.283-1457T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076704
chr17:64076744 C
C
 T
T
 1 a0001c0022t0033g0155
a0001c0022t0033g0155
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.283-1497G>A
c.283-1497G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076744
chr17:64076882 G
G
 A
A
 3 a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 3 HG01891.hp2
HG02818.hp1
NA20300.hp2
HG01891.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.283-1635C>T
c.283-1635C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64076882
chr17:64077104 C
C
 T
T
 1 a0001c0001t0003g0191
a0001c0001t0003g0191
 1 NA18977.hp1
NA18977.hp1
 intron_variant MODIFIER c.283-1857G>A
c.283-1857G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077104
chr17:64077147 A
A
 G
G
 217 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(214): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 219 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(216): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.283-1900T>C
c.283-1900T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077147
chr17:64077171 G
G
 T
T
 1 a0001c0003t0004g0143
a0001c0003t0004g0143
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.283-1924C>A
c.283-1924C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077171
chr17:64077427 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.283-2180G>A
c.283-2180G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077427
chr17:64077459 T
T
 C
C
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.282+2203A>G
c.282+2203A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077459
chr17:64077567 G
G
 A
A
 7 a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
others(4): Show 
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0003c0019t0008g0154
 8 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(5): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.282+2095C>T
c.282+2095C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077567
chr17:64077573 G
G
 C
C
 1 a0001c0001t0003g0202
a0001c0001t0003g0202
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.282+2089C>G
c.282+2089C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077573
chr17:64077723 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.282+1939G>A
c.282+1939G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077723
chr17:64077749 CT
CT
 C
C
 71 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0056
others(68): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0056
a0001c0001t0002g0079
a0001c0001t0002g0084
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
 73 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(70): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01192.hp2
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02109.hp1
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02717.hp2
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18747.hp1
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.282+1912delA
c.282+1912delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077749
chr17:64077784 T
T
 C
C
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.282+1878A>G
c.282+1878A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077784
chr17:64077785 G
G
 A
A
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.282+1877C>T
c.282+1877C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077785
chr17:64077800 T
T
 C
C
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.282+1862A>G
c.282+1862A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077800
chr17:64077806 C
C
 T
T
 3 a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
 3 HG02280.hp2
HG02559.hp2
HG02970.hp2
HG02280.hp2
HG02559.hp2
HG02970.hp2
 intron_variant MODIFIER c.282+1856G>A
c.282+1856G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077806
chr17:64077808 T
T
 G
G
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.282+1854A>C
c.282+1854A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64077808
chr17:64078135 C
C
 G
G
 1 a0001c0003t0004g0145
a0001c0003t0004g0145
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.282+1527G>C
c.282+1527G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078135
chr17:64078297 A
A
 C
C
 91 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(88): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 91 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(88): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282+1365T>G
c.282+1365T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078297
chr17:64078300 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.282+1362A>G
c.282+1362A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078300
chr17:64078620 T
T
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.282+1042A>G
c.282+1042A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078620
chr17:64078661 T
T
 G
G
 218 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(215): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 220 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(217): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282+1001A>C
c.282+1001A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078661
chr17:64078693 C
C
 T
T
 1 a0001c0005t0001g0083
a0001c0005t0001g0083
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.282+969G>A
c.282+969G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64078693
chr17:64079302 C
C
 T
T
 3 a0001c0002t0021g0219
a0005c0011t0012g0017
a0005c0011t0012g0124
a0001c0002t0021g0219
a0005c0011t0012g0017
a0005c0011t0012g0124
 3 HG03209.hp2
HG03516.hp2
HG03540.hp2
HG03209.hp2
HG03516.hp2
HG03540.hp2
 intron_variant MODIFIER c.282+360G>A
c.282+360G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64079302
chr17:64079524 T
T
 A
A
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.282+138A>T
c.282+138A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64079524
chr17:64079563 A
A
 C
C
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.282+99T>G
c.282+99T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64079563
chr17:64079573 T
T
 C
C
 222 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(219): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 224 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.282+89A>G
c.282+89A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64079573
chr17:64079644 G
G
 A
A
 22 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(19): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 22 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(19): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.282+18C>T
c.282+18C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 4/21 chr17 64079644
chr17:64079782 T
T
 C
C
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.210-48A>G
c.210-48A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64079782
chr17:64079911 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.210-177A>G
c.210-177A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64079911
chr17:64079943 T
T
 C
C
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.210-209A>G
c.210-209A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64079943
chr17:64079947 T
T
 C
C
 105 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(102): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 105 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(102): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.210-213A>G
c.210-213A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64079947
chr17:64080053 C
C
 T
T
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.210-319G>A
c.210-319G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64080053
chr17:64080086 T
T
 A
A
 1 a0001c0002t0001g0168
a0001c0002t0001g0168
 1 HG02055.hp2
HG02055.hp2
 intron_variant MODIFIER c.210-352A>T
c.210-352A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64080086
chr17:64080402 A
A
 G
G
 222 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(219): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 224 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(221): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.209+373T>C
c.209+373T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64080402
chr17:64080446 G
G
 C
C
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.209+329C>G
c.209+329C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64080446
chr17:64080652 T
T
 C
C
 94 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(91): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 94 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(91): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.209+123A>G
c.209+123A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 3/21 chr17 64080652
chr17:64080918 T
T
 C
C
 94 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(91): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 94 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(91): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.176-110A>G
c.176-110A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64080918
chr17:64080940 C
C
 T
T
 89 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(86): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 89 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(86): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.176-132G>A
c.176-132G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64080940
chr17:64080959 T
T
 C
C
 90 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(87): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 90 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(87): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.176-151A>G
c.176-151A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64080959
chr17:64080995 T
T
 C
C
 1 a0001c0002t0006g0132
a0001c0002t0006g0132
 1 HG03471.hp2
HG03471.hp2
 intron_variant MODIFIER c.176-187A>G
c.176-187A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64080995
chr17:64081146 T
T
 A
A
 1 a0001c0003t0004g0143
a0001c0003t0004g0143
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.176-338A>T
c.176-338A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081146
chr17:64081225 A
A
 G
G
 1 a0001c0002t0006g0175
a0001c0002t0006g0175
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.176-417T>C
c.176-417T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081225
chr17:64081263 A
A
 G
G
 107 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(104): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0101
a0001c0002t0001g0195
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 107 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(104): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp2
HG02895.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03492.hp2
HG03540.hp1
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.176-455T>C
c.176-455T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081263
chr17:64081356 T
T
 C
C
 90 a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
others(87): Show 
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0091
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0065
a0001c0002t0001g0195
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0020t0003g0022
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 90 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(87): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00733.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01243.hp1
HG01256.hp1
HG01258.hp2
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02135.hp2
HG02155.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02300.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp2
HG02738.hp2
HG02895.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp2
HG06807.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18965.hp2
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18977.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18999.hp1
NA18999.hp2
NA19007.hp2
NA19009.hp2
NA19011.hp1
NA19065.hp2
NA19066.hp2
NA19084.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.176-548A>G
c.176-548A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081356
chr17:64081586 A
A
 G
G
 1 a0001c0005t0001g0083
a0001c0005t0001g0083
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.176-778T>C
c.176-778T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081586
chr17:64081607 T
T
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.176-799A>T
c.176-799A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081607
chr17:64081654 C
C
 G
G
 1 a0001c0002t0001g0074
a0001c0002t0001g0074
 1 HG03704.hp1
HG03704.hp1
 intron_variant MODIFIER c.176-846G>C
c.176-846G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081654
chr17:64081706 A
A
 G
G
 2 a0001c0002t0001g0046
a0001c0002t0001g0073
a0001c0002t0001g0046
a0001c0002t0001g0073
 2 HG00558.hp2
HG02135.hp1
HG00558.hp2
HG02135.hp1
 intron_variant MODIFIER c.176-898T>C
c.176-898T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64081706
chr17:64082078 G
G
 A
A
 1 a0001c0001t0002g0060
a0001c0001t0002g0060
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.176-1270C>T
c.176-1270C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082078
chr17:64082137 T
T
 A
A
 24 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(21): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
 intron_variant MODIFIER c.176-1329A>T
c.176-1329A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082137
chr17:64082248 C
C
 T
T
 140 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(137): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 143 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(140): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-1440G>A
c.176-1440G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082248
chr17:64082306 C
C
 T
T
 1 a0001c0002t0008g0177
a0001c0002t0008g0177
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.176-1498G>A
c.176-1498G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082306
chr17:64082603 G
G
 A
A
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.176-1795C>T
c.176-1795C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082603
chr17:64082657 G
G
 A
A
 5 a0001c0002t0001g0012
a0001c0002t0001g0046
a0001c0002t0001g0066
others(2): Show 
a0001c0002t0001g0012
a0001c0002t0001g0046
a0001c0002t0001g0066
a0001c0002t0001g0073
a0001c0002t0001g0126
 5 HG00558.hp2
HG01978.hp2
HG01981.hp2
others(2): Show 
HG00558.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
NA19084.hp2
 intron_variant MODIFIER c.176-1849C>T
c.176-1849C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082657
chr17:64082684 T
T
 C
C
 140 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(137): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 143 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(140): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-1876A>G
c.176-1876A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082684
chr17:64082771 G
G
 C
C
 72 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(69): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
 74 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(71): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01884.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.176-1963C>G
c.176-1963C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082771
chr17:64082850 A
A
 AT
AT
 12 a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
others(9): Show 
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0008c0014t0005g0211
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA19043.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2043dupA
c.176-2043dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082850
chr17:64082850 A
A
 ATT
ATT
 103 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(100): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0007c0013t0014g0157
a0007c0013t0014g0158
 105 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(102): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
 intron_variant MODIFIER c.176-2044_176-2043d
others(4): Show 
c.176-2044_176-2043dupAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082850
chr17:64082851 T
T
 TTA
TTA
 25 a0001c0001t0003g0162
a0001c0002t0006g0028
a0001c0002t0006g0167
others(22): Show 
a0001c0001t0003g0162
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 25 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(22): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01516.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
NA20752.hp2
 intron_variant MODIFIER c.176-2044_176-2043i
others(4): Show 
c.176-2044_176-2043insTA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64082851
chr17:64083022 C
C
 A
A
 125 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(122): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0162
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 128 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(125): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18906.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2214G>T
c.176-2214G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083022
chr17:64083046 A
A
 G
G
 15 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(12): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
 15 HG01243.hp2
HG01934.hp1
HG02572.hp2
others(12): Show 
HG01243.hp2
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.176-2238T>C
c.176-2238T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083046
chr17:64083079 A
A
 G
G
 140 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(137): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 143 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(140): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2271T>C
c.176-2271T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083079
chr17:64083087 A
A
 C
C
 2 a0001c0002t0001g0065
a0002c0008t0003g0196
a0001c0002t0001g0065
a0002c0008t0003g0196
 2 HG01975.hp1
HG01975.hp2
HG01975.hp1
HG01975.hp2
 intron_variant MODIFIER c.176-2279T>G
c.176-2279T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083087
chr17:64083170 T
T
 C
C
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.176-2362A>G
c.176-2362A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083170
chr17:64083173 A
A
 G
G
 4 a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
others(1): Show 
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0008c0014t0005g0211
 4 HG01891.hp2
HG02818.hp1
NA19043.hp2
others(1): Show 
HG01891.hp2
HG02818.hp1
NA19043.hp2
NA20300.hp2
 intron_variant MODIFIER c.176-2365T>C
c.176-2365T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083173
chr17:64083294 A
A
 C
C
 14 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0004t0005g0003
others(11): Show 
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0008c0014t0005g0211
 15 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(12): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp1
NA19043.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2486T>G
c.176-2486T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083294
chr17:64083332 G
G
 A
A
 15 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
others(12): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
 15 HG01243.hp2
HG01934.hp1
HG02572.hp2
others(12): Show 
HG01243.hp2
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
 intron_variant MODIFIER c.176-2524C>T
c.176-2524C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083332
chr17:64083467 G
G
 A
A
 139 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(136): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 142 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(139): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2659C>T
c.176-2659C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083467
chr17:64083489 T
T
 G
G
 2 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0007g0180
a0001c0002t0007g0181
 2 HG01081.hp1
HG01123.hp2
HG01081.hp1
HG01123.hp2
 intron_variant MODIFIER c.176-2681A>C
c.176-2681A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083489
chr17:64083508 A
A
 G
G
 2 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0007g0180
a0001c0002t0007g0181
 2 HG01081.hp1
HG01123.hp2
HG01081.hp1
HG01123.hp2
 intron_variant MODIFIER c.176-2700T>C
c.176-2700T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083508
chr17:64083613 C
C
 T
T
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.176-2805G>A
c.176-2805G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083613
chr17:64083672 C
C
 G
G
 139 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(136): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 142 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(139): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-2864G>C
c.176-2864G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083672
chr17:64083747 G
G
 A
A
 1 a0001c0005t0001g0013
a0001c0005t0001g0013
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.176-2939C>T
c.176-2939C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64083747
chr17:64084086 C
C
 T
T
 1 a0001c0001t0031g0006
a0001c0001t0031g0006
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.176-3278G>A
c.176-3278G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084086
chr17:64084087 G
G
 A
A
 6 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0043
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0043
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0088
 6 HG01071.hp1
HG01192.hp2
HG02155.hp2
others(3): Show 
HG01071.hp1
HG01192.hp2
HG02155.hp2
HG02273.hp2
NA18973.hp2
NA18982.hp2
 intron_variant MODIFIER c.176-3279C>T
c.176-3279C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084087
chr17:64084094 T
T
 C
C
 227 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(224): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0064
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0092
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0017g0087
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 230 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(227): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.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.176-3286A>G
c.176-3286A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084094
chr17:64084141 G
G
 C
C
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.176-3333C>G
c.176-3333C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084141
chr17:64084183 A
A
 G
G
 25 a0001c0002t0001g0168
a0001c0002t0006g0028
a0001c0002t0006g0167
others(22): Show 
a0001c0002t0001g0168
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 25 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(22): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02055.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.176-3375T>C
c.176-3375T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084183
chr17:64084371 A
A
 T
T
 136 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(133): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 138 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(135): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-3563T>A
c.176-3563T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084371
chr17:64084393 C
C
 T
T
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.176-3585G>A
c.176-3585G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084393
chr17:64084530 GA
GA
 G
G
 137 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(134): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0009t0002g0062
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 139 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(136): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-3723delT
c.176-3723delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084530
chr17:64084573 A
A
 G
G
 3 a0001c0001t0002g0057
a0001c0001t0002g0094
a0002c0008t0034g0188
a0001c0001t0002g0057
a0001c0001t0002g0094
a0002c0008t0034g0188
 3 HG01106.hp2
HG01256.hp1
HG01361.hp2
HG01106.hp2
HG01256.hp1
HG01361.hp2
 intron_variant MODIFIER c.176-3765T>C
c.176-3765T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084573
chr17:64084599 A
A
 G
G
 25 a0001c0002t0001g0168
a0001c0002t0006g0028
a0001c0002t0006g0167
others(22): Show 
a0001c0002t0001g0168
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 25 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(22): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02055.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG03540.hp2
HG06807.hp1
 intron_variant MODIFIER c.176-3791T>C
c.176-3791T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084599
chr17:64084661 T
T
 A
A
 1 a0001c0002t0001g0218
a0001c0002t0001g0218
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.176-3853A>T
c.176-3853A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64084661
chr17:64085044 A
A
 G
G
 140 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(137): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0084
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 142 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(139): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4236T>C
c.176-4236T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085044
chr17:64085135 C
C
 T
T
 3 a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0187
a0001c0001t0003g0201
a0001c0001t0003g0202
 3 HG00639.hp1
HG02895.hp1
NA20129.hp2
HG00639.hp1
HG02895.hp1
NA20129.hp2
 intron_variant MODIFIER c.176-4327G>A
c.176-4327G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085135
chr17:64085251 G
G
 A
A
 136 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(133): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 138 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(135): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4443C>T
c.176-4443C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085251
chr17:64085369 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.176-4561C>T
c.176-4561C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085369
chr17:64085369 G
G
 T
T
 23 a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
others(20): Show 
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 23 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(20): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG02970.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
 intron_variant MODIFIER c.176-4561C>A
c.176-4561C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085369
chr17:64085391 A
A
 G
G
 1 a0001c0001t0003g0199
a0001c0001t0003g0199
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.176-4583T>C
c.176-4583T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085391
chr17:64085417 A
A
 G
G
 123 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(120): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
 125 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(122): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18906.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4609T>C
c.176-4609T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085417
chr17:64085469 C
C
 T
T
 11 a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
others(8): Show 
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 12 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(9): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4661G>A
c.176-4661G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085469
chr17:64085654 C
C
 G
G
 4 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
 4 HG01255.hp1
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01255.hp1
HG02055.hp1
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.176-4846G>C
c.176-4846G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085654
chr17:64085655 C
C
 T
T
 132 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(129): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 134 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(131): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18965.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4847G>A
c.176-4847G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085655
chr17:64085771 G
G
 C
C
 132 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(129): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 134 HG00280.hp2
HG00558.hp2
HG00621.hp1
others(131): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18965.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-4963C>G
c.176-4963C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64085771
chr17:64086005 T
T
 A
A
 1 a0001c0001t0002g0094
a0001c0001t0002g0094
 1 HG01256.hp1
HG01256.hp1
 intron_variant MODIFIER c.176-5197A>T
c.176-5197A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086005
chr17:64086031 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.176-5223A>G
c.176-5223A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086031
chr17:64086344 C
C
 G
G
 3 a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
 3 HG01167.hp1
HG01243.hp1
HG01516.hp1
HG01167.hp1
HG01243.hp1
HG01516.hp1
 intron_variant MODIFIER c.176-5536G>C
c.176-5536G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086344
chr17:64086363 C
C
 A
A
 1 a0009c0015t0002g0058
a0009c0015t0002g0058
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.176-5555G>T
c.176-5555G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086363
chr17:64086363 C
C
 G
G
 2 a0001c0001t0002g0064
a0001c0001t0002g0107
a0001c0001t0002g0064
a0001c0001t0002g0107
 2 HG01192.hp1
HG02300.hp2
HG01192.hp1
HG02300.hp2
 intron_variant MODIFIER c.176-5555G>C
c.176-5555G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086363
chr17:64086498 A
A
 G
G
 5 a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
others(2): Show 
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0003t0004g0172
 5 HG02559.hp1
HG02723.hp2
HG03098.hp1
others(2): Show 
HG02559.hp1
HG02723.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.176-5690T>C
c.176-5690T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086498
chr17:64086514 A
A
 G
G
 1 a0001c0001t0003g0162
a0001c0001t0003g0162
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.176-5706T>C
c.176-5706T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086514
chr17:64086591 G
G
 C
C
 12 a0001c0002t0001g0020
a0001c0002t0001g0156
a0001c0002t0013g0204
others(9): Show 
a0001c0002t0001g0020
a0001c0002t0001g0156
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
 13 HG01069.hp2
HG01071.hp2
HG01884.hp1
others(10): Show 
HG01069.hp2
HG01071.hp2
HG01884.hp1
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03516.hp1
NA19030.hp2
 intron_variant MODIFIER c.176-5783C>G
c.176-5783C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086591
chr17:64086637 C
C
 CT
CT
 133 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0016
others(130): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0016
a0001c0001t0002g0033
a0001c0001t0002g0040
a0001c0001t0002g0042
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0084
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0093
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0106
a0001c0001t0002g0108
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0002g0117
a0001c0001t0002g0125
a0001c0001t0002g0141
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0080
a0001c0001t0003g0105
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0192
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0016g0077
a0001c0001t0027g0071
a0001c0001t0028g0161
a0001c0001t0029g0055
a0001c0001t0030g0182
a0001c0001t0032g0098
a0001c0002t0001g0001
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0020
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0156
a0001c0002t0001g0195
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0102
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0006t0025g0113
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 135 HG00280.hp1
HG00408.hp1
HG00408.hp2
others(132): Show 
HG00280.hp1
HG00408.hp1
HG00408.hp2
HG00558.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01884.hp2
HG01928.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp2
HG02109.hp1
HG02135.hp1
HG02135.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02622.hp2
HG02647.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18957.hp1
NA18957.hp2
NA18965.hp1
NA18965.hp2
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18973.hp1
NA18973.hp2
NA18978.hp2
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19065.hp1
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA21309.hp2
 intron_variant MODIFIER c.176-5830dupA
c.176-5830dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 C
C
 CTT
CTT
 35 a0001c0001t0002g0007
a0001c0001t0002g0064
a0001c0001t0002g0100
others(32): Show 
a0001c0001t0002g0007
a0001c0001t0002g0064
a0001c0001t0002g0100
a0001c0001t0002g0107
a0001c0001t0002g0140
a0001c0001t0003g0191
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0020g0010
a0001c0001t0026g0114
a0001c0001t0031g0006
a0001c0002t0001g0034
a0001c0002t0001g0052
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0006g0169
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0039g0231
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0018t0004g0144
a0001c0021t0018g0150
a0003c0019t0008g0154
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 35 HG00733.hp2
HG01123.hp2
HG01192.hp1
others(32): Show 
HG00733.hp2
HG01123.hp2
HG01192.hp1
HG01192.hp2
HG01346.hp2
HG01928.hp2
HG01934.hp1
HG01978.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02145.hp1
HG02257.hp2
HG02300.hp2
HG02559.hp1
HG02647.hp2
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG02922.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG03942.hp2
NA18941.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA19009.hp2
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.176-5831_176-5830d
others(4): Show 
c.176-5831_176-5830dupAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 C
C
 CTTT
CTTT
 6 a0001c0003t0004g0145
a0001c0003t0004g0159
a0001c0003t0004g0160
others(3): Show 
a0001c0003t0004g0145
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0007c0013t0014g0157
a0007c0013t0014g0158
 6 HG01243.hp2
HG01884.hp1
HG02723.hp1
others(3): Show 
HG01243.hp2
HG01884.hp1
HG02723.hp1
HG03098.hp1
NA18906.hp2
NA19030.hp2
 intron_variant MODIFIER c.176-5832_176-5830d
others(5): Show 
c.176-5832_176-5830dupAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 C
C
 CTTTTT
CTTTTT
 14 a0001c0001t0002g0004
a0001c0001t0002g0025
a0001c0001t0003g0151
others(11): Show 
a0001c0001t0002g0004
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0170
a0001c0002t0010g0215
a0001c0003t0004g0143
a0008c0014t0005g0211
 14 HG01106.hp1
HG02109.hp2
HG02148.hp2
others(11): Show 
HG01106.hp1
HG02109.hp2
HG02148.hp2
HG02451.hp1
HG02559.hp2
HG02572.hp1
HG02630.hp1
HG02717.hp2
HG02809.hp2
HG02976.hp1
NA18522.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
 intron_variant MODIFIER c.176-5834_176-5830d
others(7): Show 
c.176-5834_176-5830dupAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 C
C
 CTTTTTT
CTTTTTT
 5 a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0002t0001g0019
others(2): Show 
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0002t0001g0019
a0001c0003t0004g0152
a0001c0003t0004g0153
 5 HG01255.hp1
HG02055.hp1
HG02257.hp1
others(2): Show 
HG01255.hp1
HG02055.hp1
HG02257.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.176-5835_176-5830d
others(8): Show 
c.176-5835_176-5830dupAAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 CTTTTTTT
others(2): Show 
CTTTTTTTTT
 C
C
 14 a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0004t0005g0003
others(11): Show 
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0003c0020t0003g0022
 15 HG00639.hp1
HG01099.hp1
HG01891.hp1
others(12): Show 
HG00639.hp1
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02630.hp2
HG02818.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20129.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-5838_176-5830d
others(11): Show 
c.176-5838_176-5830delAAAAAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086637 CTTTTTTT
others(3): Show 
CTTTTTTTTTT
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.176-5839_176-5830d
others(12): Show 
c.176-5839_176-5830delAAAAAAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086637
chr17:64086677 C
C
 T
T
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.176-5869G>A
c.176-5869G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64086677
chr17:64087472 C
C
 A
A
 1 a0001c0001t0002g0085
a0001c0001t0002g0085
 1 NA18965.hp2
NA18965.hp2
 intron_variant MODIFIER c.176-6664G>T
c.176-6664G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087472
chr17:64087611 T
T
 C
C
 10 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(7): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 11 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.176-6803A>G
c.176-6803A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087611
chr17:64087788 G
G
 GAAGAGC
GAAGAGC
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.176-6981_176-6980i
others(8): Show 
c.176-6981_176-6980insGCTCTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087788
chr17:64087789 T
T
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.176-6981A>T
c.176-6981A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087789
chr17:64087819 G
G
 C
C
 1 a0001c0002t0001g0049
a0001c0002t0001g0049
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.176-7011C>G
c.176-7011C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087819
chr17:64087923 G
G
 A
A
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.176-7115C>T
c.176-7115C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087923
chr17:64087990 C
C
 T
T
 1 a0001c0003t0004g0143
a0001c0003t0004g0143
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.176-7182G>A
c.176-7182G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64087990
chr17:64088005 T
T
 C
C
 2 a0001c0001t0002g0061
a0001c0001t0002g0109
a0001c0001t0002g0061
a0001c0001t0002g0109
 2 HG03834.hp1
HG06807.hp2
HG03834.hp1
HG06807.hp2
 intron_variant MODIFIER c.176-7197A>G
c.176-7197A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088005
chr17:64088028 T
T
 C
C
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.176-7220A>G
c.176-7220A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088028
chr17:64088597 A
A
 G
G
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.176-7789T>C
c.176-7789T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088597
chr17:64088705 C
C
 T
T
 1 a0001c0001t0002g0024
a0001c0001t0002g0024
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.176-7897G>A
c.176-7897G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088705
chr17:64088753 G
G
 A
A
 2 a0001c0001t0002g0061
a0001c0001t0002g0109
a0001c0001t0002g0061
a0001c0001t0002g0109
 2 HG03834.hp1
HG06807.hp2
HG03834.hp1
HG06807.hp2
 intron_variant MODIFIER c.176-7945C>T
c.176-7945C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088753
chr17:64088988 T
T
 C
C
 9 a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
others(6): Show 
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
 9 HG01243.hp2
HG01934.hp1
HG02647.hp2
others(6): Show 
HG01243.hp2
HG01934.hp1
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.176-8180A>G
c.176-8180A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64088988
chr17:64089318 C
C
 CA
CA
 43 a0001c0001t0001g0045
a0001c0001t0002g0021
a0001c0001t0002g0100
others(40): Show 
a0001c0001t0001g0045
a0001c0001t0002g0021
a0001c0001t0002g0100
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0128
a0001c0002t0001g0011
a0001c0002t0001g0030
a0001c0002t0001g0034
a0001c0002t0001g0043
a0001c0002t0001g0049
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0074
a0001c0002t0001g0089
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0007t0001g0039
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 43 HG01071.hp1
HG01167.hp2
HG01192.hp2
others(40): Show 
HG01071.hp1
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG02055.hp1
HG02145.hp1
HG02273.hp2
HG02280.hp2
HG02559.hp2
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02809.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp1
HG03453.hp2
HG03540.hp1
HG03704.hp1
HG03927.hp1
HG04184.hp1
HG04199.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp2
NA18977.hp2
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
 intron_variant MODIFIER c.176-8511dupT
c.176-8511dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089318
chr17:64089318 CA
CA
 C
C
 24 a0001c0001t0002g0094
a0001c0001t0003g0112
a0001c0001t0027g0071
others(21): Show 
a0001c0001t0002g0094
a0001c0001t0003g0112
a0001c0001t0027g0071
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0015g0220
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0002c0008t0003g0096
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
 24 HG00733.hp2
HG00741.hp1
HG01074.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01074.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG02273.hp1
HG02451.hp2
HG02486.hp1
HG02647.hp1
HG02896.hp1
HG02897.hp2
HG02970.hp1
HG03130.hp1
HG03209.hp2
HG03471.hp1
HG03516.hp2
HG06807.hp1
NA18965.hp1
NA19011.hp2
NA21309.hp2
 intron_variant MODIFIER c.176-8511delT
c.176-8511delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089318
chr17:64089318 CAAAAAAA
others(4): Show 
CAAAAAAAAAAA
 C
C
 12 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(9): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0021t0018g0150
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.176-8521_176-8511d
others(13): Show 
c.176-8521_176-8511delTTTTTTTTTTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089318
chr17:64089318 CAAAAAAA
others(5): Show 
CAAAAAAAAAAAA
 C
C
 1 a0001c0004t0005g0223
a0001c0004t0005g0223
 1 HG02897.hp1
HG02897.hp1
 intron_variant MODIFIER c.176-8522_176-8511d
others(14): Show 
c.176-8522_176-8511delTTTTTTTTTTTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089318
chr17:64089423 G
G
 A
A
 1 a0001c0002t0001g0156
a0001c0002t0001g0156
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.176-8615C>T
c.176-8615C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089423
chr17:64089512 A
A
 G
G
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.175+8609T>C
c.175+8609T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089512
chr17:64089829 AC
AC
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+8291delG
c.175+8291delG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64089829
chr17:64090139 A
A
 G
G
 1 a0001c0002t0024g0142
a0001c0002t0024g0142
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.175+7982T>C
c.175+7982T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090139
chr17:64090146 T
T
 C
C
 1 a0001c0002t0001g0170
a0001c0002t0001g0170
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.175+7975A>G
c.175+7975A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090146
chr17:64090174 AT
AT
 A
A
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0003t0004g0131
 7 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.175+7946delA
c.175+7946delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090174
chr17:64090183 T
T
 A
A
 1 a0001c0002t0001g0048
a0001c0002t0001g0048
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.175+7938A>T
c.175+7938A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090183
chr17:64090229 C
C
 T
T
 160 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(157): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0042
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0080
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0027g0071
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0196
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 163 HG00280.hp1
HG00280.hp2
HG00408.hp2
others(160): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp2
HG00558.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18954.hp2
NA18965.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18999.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.175+7892G>A
c.175+7892G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090229
chr17:64090270 A
A
 C
C
 1 a0001c0003t0004g0002
a0001c0003t0004g0002
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.175+7851T>G
c.175+7851T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090270
chr17:64090278 C
C
 T
T
 2 a0001c0001t0002g0061
a0001c0001t0002g0109
a0001c0001t0002g0061
a0001c0001t0002g0109
 2 HG03834.hp1
HG06807.hp2
HG03834.hp1
HG06807.hp2
 intron_variant MODIFIER c.175+7843G>A
c.175+7843G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090278
chr17:64090365 T
T
 C
C
 14 a0001c0002t0006g0028
a0001c0002t0015g0220
a0001c0002t0015g0221
others(11): Show 
a0001c0002t0006g0028
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 15 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(12): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+7756A>G
c.175+7756A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090365
chr17:64090382 C
C
 T
T
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 18 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+7739G>A
c.175+7739G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090382
chr17:64090423 C
C
 G
G
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.175+7698G>C
c.175+7698G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090423
chr17:64090470 CTG
CTG
 C
C
 12 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(9): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+7649_175+7650d
others(4): Show 
c.175+7649_175+7650delCA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090470
chr17:64090533 C
C
 T
T
 1 a0001c0001t0002g0056
a0001c0001t0002g0056
 1 HG03710.hp1
HG03710.hp1
 intron_variant MODIFIER c.175+7588G>A
c.175+7588G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090533
chr17:64090800 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+7321C>T
c.175+7321C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090800
chr17:64090891 C
C
 T
T
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.175+7230G>A
c.175+7230G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090891
chr17:64090892 G
G
 A
A
 1 a0001c0005t0001g0083
a0001c0005t0001g0083
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.175+7229C>T
c.175+7229C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64090892
chr17:64091097 G
G
 T
T
 10 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(7): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 11 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.175+7024C>A
c.175+7024C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091097
chr17:64091193 CT
CT
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+6927delA
c.175+6927delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091193
chr17:64091218 A
A
 G
G
 24 a0001c0001t0003g0162
a0001c0002t0001g0170
a0001c0002t0006g0167
others(21): Show 
a0001c0001t0003g0162
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
NA20752.hp2
 intron_variant MODIFIER c.175+6903T>C
c.175+6903T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091218
chr17:64091249 C
C
 T
T
 24 a0001c0001t0003g0162
a0001c0002t0001g0170
a0001c0002t0006g0167
others(21): Show 
a0001c0001t0003g0162
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 24 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(21): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
NA20752.hp2
 intron_variant MODIFIER c.175+6872G>A
c.175+6872G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091249
chr17:64091281 C
C
 A
A
 1 a0001c0002t0001g0156
a0001c0002t0001g0156
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.175+6840G>T
c.175+6840G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091281
chr17:64091514 A
A
 C
C
 1 a0001c0005t0001g0116
a0001c0005t0001g0116
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.175+6607T>G
c.175+6607T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091514
chr17:64091526 C
C
 T
T
 3 a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 3 HG01891.hp2
HG02818.hp1
NA20300.hp2
HG01891.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.175+6595G>A
c.175+6595G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091526
chr17:64091754 C
C
 G
G
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 18 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+6367G>C
c.175+6367G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091754
chr17:64091767 C
C
 CG
CG
 50 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0014
others(47): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0014
a0001c0001t0002g0021
a0001c0001t0002g0040
a0001c0001t0002g0056
a0001c0001t0002g0064
a0001c0001t0002g0086
a0001c0001t0002g0095
a0001c0001t0002g0103
a0001c0001t0002g0107
a0001c0001t0002g0110
a0001c0001t0003g0053
a0001c0001t0003g0112
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0225
a0001c0001t0020g0010
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0023
a0001c0002t0001g0030
a0001c0002t0001g0034
a0001c0002t0001g0048
a0001c0002t0001g0052
a0001c0002t0001g0082
a0001c0002t0001g0089
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0006g0173
a0001c0002t0010g0213
a0001c0002t0011g0137
a0001c0002t0013g0204
a0001c0002t0039g0231
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0172
a0001c0004t0005g0227
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0111
a0001c0005t0001g0116
a0001c0006t0007g0120
a0001c0007t0001g0037
a0001c0022t0033g0155
a0002c0008t0003g0096
a0002c0008t0034g0188
a0003c0020t0003g0022
a0007c0013t0014g0157
a0010c0016t0002g0008
 50 HG00621.hp1
HG00621.hp2
HG00738.hp2
others(47): Show 
HG00621.hp1
HG00621.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01074.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01192.hp1
HG01243.hp2
HG01361.hp2
HG01934.hp2
HG01978.hp1
HG01981.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02273.hp1
HG02300.hp2
HG02486.hp2
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG03098.hp1
HG03453.hp1
HG03516.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA19030.hp1
NA19030.hp2
NA19066.hp2
 intron_variant MODIFIER c.175+6353dupC
c.175+6353dupC
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091767
chr17:64091824 A
A
 C
C
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 18 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+6297T>G
c.175+6297T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091824
chr17:64091885 G
G
 A
A
 17 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(14): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 17 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(14): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+6236C>T
c.175+6236C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091885
chr17:64091953 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+6168G>A
c.175+6168G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091953
chr17:64091977 C
C
 T
T
 1 a0001c0003t0004g0143
a0001c0003t0004g0143
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.175+6144G>A
c.175+6144G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64091977
chr17:64092081 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.175+6040G>A
c.175+6040G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092081
chr17:64092322 A
A
 C
C
 12 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(9): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+5799T>G
c.175+5799T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092322
chr17:64092370 C
C
 T
T
 6 a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
others(3): Show 
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
 6 HG01109.hp2
HG02647.hp1
HG02965.hp2
others(3): Show 
HG01109.hp2
HG02647.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.175+5751G>A
c.175+5751G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092370
chr17:64092390 C
C
 T
T
 12 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(9): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+5731G>A
c.175+5731G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092390
chr17:64092418 T
T
 G
G
 1 a0001c0002t0001g0034
a0001c0002t0001g0034
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.175+5703A>C
c.175+5703A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092418
chr17:64092574 T
T
 C
C
 1 a0001c0001t0002g0108
a0001c0001t0002g0108
 1 HG01081.hp2
HG01081.hp2
 intron_variant MODIFIER c.175+5547A>G
c.175+5547A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092574
chr17:64092609 G
G
 C
C
 1 a0001c0001t0002g0212
a0001c0001t0002g0212
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.175+5512C>G
c.175+5512C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092609
chr17:64092826 G
G
 A
A
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.175+5295C>T
c.175+5295C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092826
chr17:64092872 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.175+5249G>A
c.175+5249G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092872
chr17:64092873 G
G
 A
A
 4 a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
others(1): Show 
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 4 HG00280.hp2
HG01255.hp2
HG02145.hp2
others(1): Show 
HG00280.hp2
HG01255.hp2
HG02145.hp2
HG04184.hp1
 intron_variant MODIFIER c.175+5248C>T
c.175+5248C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092873
chr17:64092935 C
C
 T
T
 1 a0001c0018t0004g0144
a0001c0018t0004g0144
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.175+5186G>A
c.175+5186G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092935
chr17:64092941 A
A
 C
C
 1 a0001c0001t0003g0185
a0001c0001t0003g0185
 1 NA18999.hp1
NA18999.hp1
 intron_variant MODIFIER c.175+5180T>G
c.175+5180T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092941
chr17:64092942 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+5179G>A
c.175+5179G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64092942
chr17:64093019 C
C
 T
T
 1 a0001c0002t0001g0156
a0001c0002t0001g0156
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.175+5102G>A
c.175+5102G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093019
chr17:64093048 A
A
 G
G
 1 a0001c0001t0028g0161
a0001c0001t0028g0161
 1 HG00738.hp1
HG00738.hp1
 intron_variant MODIFIER c.175+5073T>C
c.175+5073T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093048
chr17:64093156 C
C
 T
T
 23 a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
others(20): Show 
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 23 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(20): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03209.hp2
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
 intron_variant MODIFIER c.175+4965G>A
c.175+4965G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093156
chr17:64093534 G
G
 A
A
 3 a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 3 HG01891.hp2
HG02818.hp1
NA20300.hp2
HG01891.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.175+4587C>T
c.175+4587C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093534
chr17:64093624 C
C
 T
T
 1 a0002c0008t0003g0196
a0002c0008t0003g0196
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.175+4497G>A
c.175+4497G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093624
chr17:64093765 T
T
 A
A
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.175+4356A>T
c.175+4356A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093765
chr17:64093781 T
T
 C
C
 1 a0001c0001t0002g0092
a0001c0001t0002g0092
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.175+4340A>G
c.175+4340A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093781
chr17:64093816 G
G
 T
T
 1 a0001c0001t0002g0007
a0001c0001t0002g0007
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.175+4305C>A
c.175+4305C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64093816
chr17:64094064 C
C
 T
T
 23 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(20): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 23 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(20): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.175+4057G>A
c.175+4057G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094064
chr17:64094363 A
A
 G
G
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+3758T>C
c.175+3758T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094363
chr17:64094424 A
A
 C
C
 2 a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0078
a0001c0001t0002g0079
 2 NA18986.hp1
NA19007.hp2
NA18986.hp1
NA19007.hp2
 intron_variant MODIFIER c.175+3697T>G
c.175+3697T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094424
chr17:64094517 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+3604C>T
c.175+3604C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094517
chr17:64094602 G
G
 A
A
 1 a0001c0002t0039g0231
a0001c0002t0039g0231
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.175+3519C>T
c.175+3519C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094602
chr17:64094626 C
C
 CT
CT
 13 a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0156
others(10): Show 
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0021g0219
a0001c0003t0004g0002
a0001c0003t0004g0143
a0001c0003t0004g0208
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 14 HG01069.hp2
HG01071.hp2
HG01192.hp2
others(11): Show 
HG01069.hp2
HG01071.hp2
HG01192.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02273.hp2
HG02486.hp2
HG02717.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03516.hp1
HG03540.hp2
 intron_variant MODIFIER c.175+3494dupA
c.175+3494dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094626
chr17:64094626 CT
CT
 C
C
 7 a0001c0001t0003g0115
a0001c0001t0003g0197
a0001c0001t0017g0067
others(4): Show 
a0001c0001t0003g0115
a0001c0001t0003g0197
a0001c0001t0017g0067
a0001c0002t0001g0031
a0001c0002t0001g0170
a0001c0004t0005g0227
a0001c0006t0007g0119
 7 HG01099.hp1
HG01256.hp2
HG02155.hp1
others(4): Show 
HG01099.hp1
HG01256.hp2
HG02155.hp1
HG02976.hp1
NA18954.hp1
NA18954.hp2
NA18986.hp2
 intron_variant MODIFIER c.175+3494delA
c.175+3494delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094626
chr17:64094818 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+3303G>A
c.175+3303G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64094818
chr17:64095250 G
G
 A
A
 12 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(9): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 13 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(10): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+2871C>T
c.175+2871C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64095250
chr17:64095268 A
A
 G
G
 1 a0001c0006t0025g0113
a0001c0006t0025g0113
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.175+2853T>C
c.175+2853T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64095268
chr17:64095375 G
G
 C
C
 5 a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
others(2): Show 
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
 5 HG02257.hp1
HG02451.hp1
HG02572.hp1
others(2): Show 
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02809.hp2
HG03195.hp1
 intron_variant MODIFIER c.175+2746C>G
c.175+2746C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64095375
chr17:64095638 G
G
 A
A
 3 a0001c0001t0002g0060
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0060
a0001c0001t0002g0125
a0001c0001t0002g0140
 3 HG00408.hp1
HG02027.hp1
NA18973.hp1
HG00408.hp1
HG02027.hp1
NA18973.hp1
 intron_variant MODIFIER c.175+2483C>T
c.175+2483C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64095638
chr17:64095955 T
T
 G
G
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 18 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+2166A>C
c.175+2166A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64095955
chr17:64096126 G
G
 A
A
 6 a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
others(3): Show 
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
 6 HG01109.hp2
HG02647.hp1
HG02965.hp2
others(3): Show 
HG01109.hp2
HG02647.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.175+1995C>T
c.175+1995C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096126
chr17:64096145 G
G
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+1976C>G
c.175+1976C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096145
chr17:64096317 C
C
 T
T
 1 a0001c0001t0009g0133
a0001c0001t0009g0133
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.175+1804G>A
c.175+1804G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096317
chr17:64096422 A
A
 C
C
 4 a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
others(1): Show 
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 4 HG00280.hp2
HG01255.hp2
HG02145.hp2
others(1): Show 
HG00280.hp2
HG01255.hp2
HG02145.hp2
HG04184.hp1
 intron_variant MODIFIER c.175+1699T>G
c.175+1699T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096422
chr17:64096498 A
A
 T
T
 6 a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
others(3): Show 
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
 6 HG01109.hp2
HG02647.hp1
HG02965.hp2
others(3): Show 
HG01109.hp2
HG02647.hp1
HG02965.hp2
HG02970.hp1
HG03471.hp1
HG06807.hp1
 intron_variant MODIFIER c.175+1623T>A
c.175+1623T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096498
chr17:64096536 G
G
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.175+1585C>G
c.175+1585C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096536
chr17:64096624 C
C
 G
G
 18 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(15): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 18 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(15): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+1497G>C
c.175+1497G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096624
chr17:64096642 T
T
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+1479A>T
c.175+1479A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096642
chr17:64096689 A
A
 G
G
 1 a0001c0001t0003g0225
a0001c0001t0003g0225
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.175+1432T>C
c.175+1432T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096689
chr17:64096976 T
T
 C
C
 13 a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
others(10): Show 
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0021t0018g0150
 14 HG01099.hp1
HG01891.hp1
HG01891.hp2
others(11): Show 
HG01099.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02622.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.175+1145A>G
c.175+1145A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64096976
chr17:64097235 G
G
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.175+886C>A
c.175+886C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097235
chr17:64097405 G
G
 C
C
 17 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(14): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 17 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(14): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.175+716C>G
c.175+716C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097405
chr17:64097594 C
C
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+527G>C
c.175+527G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097594
chr17:64097600 C
C
 T
T
 35 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0042
others(32): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0042
a0001c0002t0001g0001
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
 36 HG00558.hp2
HG00621.hp2
HG00673.hp2
others(33): Show 
HG00558.hp2
HG00621.hp2
HG00673.hp2
HG01071.hp1
HG01192.hp2
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02135.hp1
HG02155.hp2
HG02273.hp2
HG02738.hp1
HG03490.hp2
HG03492.hp1
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG04199.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA20300.hp1
 intron_variant MODIFIER c.175+521G>A
c.175+521G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097600
chr17:64097621 A
A
 G
G
 10 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(7): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 11 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.175+500T>C
c.175+500T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097621
chr17:64097897 A
A
 G
G
 10 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(7): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 11 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.175+224T>C
c.175+224T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097897
chr17:64097927 C
C
 G
G
 1 a0001c0001t0002g0095
a0001c0001t0002g0095
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.175+194G>C
c.175+194G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64097927
chr17:64098101 A
A
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.175+20T>C
c.175+20T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 2/21 chr17 64098101
chr17:64098315 C
C
 A
A
 1 a0001c0001t0003g0225
a0001c0001t0003g0225
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.55-74G>T
c.55-74G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64098315
chr17:64098467 C
C
 A
A
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.55-226G>T
c.55-226G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64098467
chr17:64098600 C
C
 T
T
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.55-359G>A
c.55-359G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64098600
chr17:64098745 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-504A>G
c.55-504A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64098745
chr17:64098842 C
C
 G
G
 6 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0043
others(3): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0002t0001g0043
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0088
 6 HG01071.hp1
HG01192.hp2
HG02155.hp2
others(3): Show 
HG01071.hp1
HG01192.hp2
HG02155.hp2
HG02273.hp2
NA18973.hp2
NA18982.hp2
 intron_variant MODIFIER c.55-601G>C
c.55-601G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64098842
chr17:64099046 T
T
 C
C
 16 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(13): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-805A>G
c.55-805A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099046
chr17:64099277 A
A
 AT
AT
 89 a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0162
others(86): Show 
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 91 HG00280.hp2
HG00733.hp2
HG00741.hp1
others(88): Show 
HG00280.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-1037dupA
c.55-1037dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099277
chr17:64099363 C
C
 T
T
 10 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(7): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0022t0033g0155
a0003c0019t0008g0154
 11 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(8): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-1122G>A
c.55-1122G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099363
chr17:64099432 G
G
 A
A
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.55-1191C>T
c.55-1191C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099432
chr17:64099516 C
C
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-1275G>A
c.55-1275G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099516
chr17:64099685 C
C
 T
T
 2 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0007g0180
a0001c0002t0007g0181
 2 HG01081.hp1
HG01123.hp2
HG01081.hp1
HG01123.hp2
 intron_variant MODIFIER c.55-1444G>A
c.55-1444G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099685
chr17:64099730 C
C
 A
A
 1 a0001c0002t0007g0181
a0001c0002t0007g0181
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.55-1489G>T
c.55-1489G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099730
chr17:64099783 C
C
 T
T
 3 a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0126
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0126
 3 HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
 intron_variant MODIFIER c.55-1542G>A
c.55-1542G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099783
chr17:64099803 G
G
 C
C
 1 a0001c0002t0001g0015
a0001c0002t0001g0015
 1 NA18978.hp2
NA18978.hp2
 intron_variant MODIFIER c.55-1562C>G
c.55-1562C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099803
chr17:64099995 C
C
 T
T
 28 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0006g0028
others(25): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0006g0028
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 29 HG01099.hp1
HG01243.hp2
HG01884.hp1
others(26): Show 
HG01099.hp1
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-1754G>A
c.55-1754G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64099995
chr17:64100016 C
C
 T
T
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.55-1775G>A
c.55-1775G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100016
chr17:64100231 T
T
 C
C
 3 a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
 3 HG01106.hp1
HG02148.hp2
NA19043.hp1
HG01106.hp1
HG02148.hp2
NA19043.hp1
 intron_variant MODIFIER c.55-1990A>G
c.55-1990A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100231
chr17:64100259 A
A
 G
G
 2 a0001c0001t0003g0186
a0001c0001t0003g0200
a0001c0001t0003g0186
a0001c0001t0003g0200
 2 HG00673.hp1
NA18747.hp2
HG00673.hp1
NA18747.hp2
 intron_variant MODIFIER c.55-2018T>C
c.55-2018T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100259
chr17:64100394 C
C
 A
A
 23 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(20): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 23 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(20): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.55-2153G>T
c.55-2153G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100394
chr17:64100394 C
C
 G
G
 1 a0001c0002t0001g0170
a0001c0002t0001g0170
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.55-2153G>C
c.55-2153G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100394
chr17:64100568 C
C
 T
T
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.55-2327G>A
c.55-2327G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100568
chr17:64100632 A
A
 G
G
 1 a0001c0002t0010g0213
a0001c0002t0010g0213
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.55-2391T>C
c.55-2391T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100632
chr17:64100781 C
C
 CAATA
CAATA
 2 a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0035g0165
a0001c0004t0036g0164
 2 HG02818.hp1
NA20300.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.55-2544_55-2541dup
others(4): Show 
c.55-2544_55-2541dupTATT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100781
chr17:64100781 C
C
 CAATAAAT
others(1): Show 
CAATAAATA
 6 a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
others(3): Show 
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
 7 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(4): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-2548_55-2541dup
others(8): Show 
c.55-2548_55-2541dupTATTTATT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100781
chr17:64100823 C
C
 G
G
 16 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(13): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-2582G>C
c.55-2582G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100823
chr17:64100919 G
G
 A
A
 16 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(13): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-2678C>T
c.55-2678C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64100919
chr17:64101054 C
C
 T
T
 1 a0001c0002t0001g0089
a0001c0002t0001g0089
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.55-2813G>A
c.55-2813G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101054
chr17:64101122 G
G
 A
A
 88 a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
others(85): Show 
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 90 HG00280.hp2
HG00733.hp2
HG00741.hp1
others(87): Show 
HG00280.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp2
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19240.hp1
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-2881C>T
c.55-2881C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101122
chr17:64101206 C
C
 T
T
 1 a0001c0003t0004g0143
a0001c0003t0004g0143
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.55-2965G>A
c.55-2965G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101206
chr17:64101222 A
A
 C
C
 1 a0001c0001t0031g0006
a0001c0001t0031g0006
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.55-2981T>G
c.55-2981T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101222
chr17:64101237 C
C
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-2996G>A
c.55-2996G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101237
chr17:64101296 C
C
 T
T
 1 a0001c0001t0003g0112
a0001c0001t0003g0112
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.55-3055G>A
c.55-3055G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101296
chr17:64101306 C
C
 T
T
 1 a0001c0002t0001g0195
a0001c0002t0001g0195
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.55-3065G>A
c.55-3065G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101306
chr17:64101367 G
G
 A
A
 1 a0001c0005t0001g0116
a0001c0005t0001g0116
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.55-3126C>T
c.55-3126C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101367
chr17:64101536 G
G
 C
C
 1 a0001c0001t0002g0212
a0001c0001t0002g0212
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.55-3295C>G
c.55-3295C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101536
chr17:64101536 G
G
 T
T
 26 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0006g0028
others(23): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0006g0028
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 27 HG01099.hp1
HG01243.hp2
HG01884.hp1
others(24): Show 
HG01099.hp1
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp2
HG03225.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-3295C>A
c.55-3295C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101536
chr17:64101558 A
A
 T
T
 1 a0001c0006t0007g0102
a0001c0006t0007g0102
 1 HG01516.hp2
HG01516.hp2
 intron_variant MODIFIER c.55-3317T>A
c.55-3317T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101558
chr17:64101673 A
A
 T
T
 6 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
others(3): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0039g0231
a0001c0003t0004g0143
a0007c0013t0014g0157
a0007c0013t0014g0158
 6 HG01884.hp1
HG02630.hp1
HG02717.hp2
others(3): Show 
HG01884.hp1
HG02630.hp1
HG02717.hp2
NA18522.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.55-3432T>A
c.55-3432T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64101673
chr17:64102108 C
C
 T
T
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.55-3867G>A
c.55-3867G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102108
chr17:64102272 C
C
 G
G
 1 a0001c0001t0002g0014
a0001c0001t0002g0014
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.55-4031G>C
c.55-4031G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102272
chr17:64102427 T
T
 C
C
 12 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(9): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
 12 HG01346.hp1
HG01884.hp2
HG02145.hp1
others(9): Show 
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.55-4186A>G
c.55-4186A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102427
chr17:64102433 C
C
 T
T
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-4192G>A
c.55-4192G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102433
chr17:64102666 T
T
 C
C
 2 a0006c0010t0022g0122
a0006c0010t0023g0121
a0006c0010t0022g0122
a0006c0010t0023g0121
 2 HG01069.hp1
HG01515.hp1
HG01069.hp1
HG01515.hp1
 intron_variant MODIFIER c.55-4425A>G
c.55-4425A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102666
chr17:64102689 G
G
 A
A
 1 a0001c0002t0007g0181
a0001c0002t0007g0181
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.55-4448C>T
c.55-4448C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102689
chr17:64102898 G
G
 A
A
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-4657C>T
c.55-4657C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102898
chr17:64102937 T
T
 C
C
 1 a0001c0002t0006g0028
a0001c0002t0006g0028
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.55-4696A>G
c.55-4696A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64102937
chr17:64103190 G
G
 A
A
 1 a0001c0002t0007g0181
a0001c0002t0007g0181
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.55-4949C>T
c.55-4949C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64103190
chr17:64103332 A
A
 G
G
 1 a0001c0001t0002g0014
a0001c0001t0002g0014
 1 HG00738.hp2
HG00738.hp2
 intron_variant MODIFIER c.55-5091T>C
c.55-5091T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64103332
chr17:64103496 CA
CA
 C
C
 14 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(11): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 14 HG01243.hp2
HG01884.hp1
HG02647.hp2
others(11): Show 
HG01243.hp2
HG01884.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-5256delT
c.55-5256delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64103496
chr17:64103948 A
A
 C
C
 142 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(139): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0042
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 145 HG00280.hp2
HG00558.hp2
HG00621.hp2
others(142): Show 
HG00280.hp2
HG00558.hp2
HG00621.hp2
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA19007.hp1
NA19009.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-5707T>G
c.55-5707T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64103948
chr17:64104017 T
T
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-5776A>G
c.55-5776A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104017
chr17:64104075 CA
CA
 C
C
 6 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(3): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
 6 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(3): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.55-5835delT
c.55-5835delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104075
chr17:64104280 G
G
 A
A
 1 a0001c0002t0013g0206
a0001c0002t0013g0206
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.55-6039C>T
c.55-6039C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104280
chr17:64104300 T
T
 C
C
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-6059A>G
c.55-6059A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104300
chr17:64104511 G
G
 C
C
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-6270C>G
c.55-6270C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104511
chr17:64104630 T
T
 C
C
 76 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(73): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 78 HG00280.hp2
HG01069.hp2
HG01071.hp2
others(75): Show 
HG00280.hp2
HG01069.hp2
HG01071.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-6389A>G
c.55-6389A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104630
chr17:64104652 C
C
 G
G
 1 a0001c0005t0001g0013
a0001c0005t0001g0013
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.55-6411G>C
c.55-6411G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104652
chr17:64104818 C
C
 CA
CA
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-6578dupT
c.55-6578dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64104818
chr17:64105011 T
T
 TAC
TAC
 22 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(19): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 22 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(19): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.55-6772_55-6771dup
others(2): Show 
c.55-6772_55-6771dupGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105011
chr17:64105011 TAC
TAC
 T
T
 13 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(10): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
 13 HG01243.hp2
HG01884.hp1
HG02647.hp2
others(10): Show 
HG01243.hp2
HG01884.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.55-6772_55-6771del
others(2): Show 
c.55-6772_55-6771delGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105011
chr17:64105021 C
C
 T
T
 2 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0156
a0001c0002t0001g0168
 2 HG02055.hp2
HG02109.hp1
HG02055.hp2
HG02109.hp1
 intron_variant MODIFIER c.55-6780G>A
c.55-6780G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105021
chr17:64105054 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.55-6813T>C
c.55-6813T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105054
chr17:64105111 CCTCT
CCTCT
 C
C
 8 a0001c0001t0003g0225
a0001c0004t0005g0003
a0001c0004t0005g0222
others(5): Show 
a0001c0001t0003g0225
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
 9 HG01099.hp1
HG01891.hp1
HG02630.hp1
others(6): Show 
HG01099.hp1
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA21309.hp1
 intron_variant MODIFIER c.55-6874_55-6871del
others(4): Show 
c.55-6874_55-6871delAGAG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105111
chr17:64105414 A
A
 T
T
 1 a0001c0001t0002g0100
a0001c0001t0002g0100
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.55-7173T>A
c.55-7173T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105414
chr17:64105830 G
G
 C
C
 22 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(19): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 22 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(19): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.55-7589C>G
c.55-7589C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105830
chr17:64105864 A
A
 C
C
 2 a0001c0003t0004g0002
a0001c0004t0005g0205
a0001c0003t0004g0002
a0001c0004t0005g0205
 3 HG01069.hp2
HG01071.hp2
HG02622.hp1
HG01069.hp2
HG01071.hp2
HG02622.hp1
 intron_variant MODIFIER c.55-7623T>G
c.55-7623T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105864
chr17:64105960 C
C
 CA
CA
 5 a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
others(2): Show 
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
 6 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(3): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02622.hp1
HG02965.hp1
HG03195.hp2
 intron_variant MODIFIER c.55-7720dupT
c.55-7720dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105960
chr17:64105960 CA
CA
 C
C
 5 a0001c0001t0001g0072
a0001c0001t0002g0085
a0001c0001t0002g0094
others(2): Show 
a0001c0001t0001g0072
a0001c0001t0002g0085
a0001c0001t0002g0094
a0001c0001t0003g0198
a0001c0002t0001g0046
 5 HG01256.hp1
HG02135.hp1
HG02155.hp2
others(2): Show 
HG01256.hp1
HG02135.hp1
HG02155.hp2
NA18941.hp1
NA18965.hp2
 intron_variant MODIFIER c.55-7720delT
c.55-7720delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105960
chr17:64105984 C
C
 G
G
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.55-7743G>C
c.55-7743G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64105984
chr17:64106008 T
T
 C
C
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.55-7767A>G
c.55-7767A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106008
chr17:64106118 T
T
 C
C
 3 a0001c0002t0039g0231
a0007c0013t0014g0157
a0007c0013t0014g0158
a0001c0002t0039g0231
a0007c0013t0014g0157
a0007c0013t0014g0158
 3 HG01884.hp1
NA19030.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp1
NA19030.hp2
 intron_variant MODIFIER c.55-7877A>G
c.55-7877A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106118
chr17:64106468 G
G
 C
C
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.55-8227C>G
c.55-8227C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106468
chr17:64106487 T
T
 C
C
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-8246A>G
c.55-8246A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106487
chr17:64106715 T
T
 TAC
TAC
 33 a0001c0001t0002g0061
a0001c0001t0002g0076
a0001c0001t0002g0084
others(30): Show 
a0001c0001t0002g0061
a0001c0001t0002g0076
a0001c0001t0002g0084
a0001c0001t0002g0093
a0001c0001t0002g0109
a0001c0001t0002g0110
a0001c0001t0003g0162
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0020g0010
a0001c0002t0001g0043
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0010g0214
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0005t0001g0111
a0001c0006t0007g0120
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0006c0010t0022g0122
a0006c0010t0023g0121
a0011c0023t0016g0051
 33 HG00639.hp1
HG00741.hp1
HG01069.hp1
others(30): Show 
HG00639.hp1
HG00741.hp1
HG01069.hp1
HG01071.hp1
HG01099.hp2
HG01109.hp2
HG01243.hp2
HG01255.hp2
HG01346.hp2
HG01515.hp1
HG01978.hp1
HG01981.hp1
HG02145.hp2
HG02148.hp1
HG02647.hp1
HG02717.hp2
HG02723.hp1
HG02970.hp2
HG03130.hp2
HG03453.hp2
HG03492.hp2
HG03540.hp1
HG03834.hp1
HG04184.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp2
NA18954.hp1
NA18957.hp1
NA19030.hp1
NA20129.hp2
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.55-8476_55-8475dup
others(2): Show 
c.55-8476_55-8475dupGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACAC
TACAC
 31 a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
others(28): Show 
a0001c0001t0002g0094
a0001c0001t0002g0095
a0001c0001t0002g0097
a0001c0001t0002g0099
a0001c0001t0002g0141
a0001c0001t0003g0112
a0001c0001t0003g0115
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0190
a0001c0001t0003g0199
a0001c0001t0028g0161
a0001c0001t0032g0098
a0001c0002t0001g0044
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0134
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0013g0204
a0001c0003t0004g0131
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0004t0005g0205
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0021t0018g0150
a0002c0008t0003g0096
a0002c0008t0034g0188
a0008c0014t0005g0211
a0010c0016t0002g0008
 31 HG00673.hp1
HG00673.hp2
HG00738.hp1
others(28): Show 
HG00673.hp1
HG00673.hp2
HG00738.hp1
HG01074.hp1
HG01123.hp1
HG01192.hp2
HG01243.hp1
HG01256.hp1
HG01361.hp1
HG01361.hp2
HG01516.hp1
HG01934.hp1
HG02155.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp2
HG02622.hp1
HG02647.hp2
HG02895.hp1
HG03516.hp1
HG03704.hp2
HG03927.hp2
NA18522.hp1
NA18978.hp1
NA19043.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.55-8478_55-8475dup
others(4): Show 
c.55-8478_55-8475dupGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACAC
TACACAC
 36 a0001c0001t0002g0009
a0001c0001t0002g0040
a0001c0001t0002g0064
others(33): Show 
a0001c0001t0002g0009
a0001c0001t0002g0040
a0001c0001t0002g0064
a0001c0001t0002g0100
a0001c0001t0002g0103
a0001c0001t0002g0104
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0105
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0203
a0001c0001t0027g0071
a0001c0001t0029g0055
a0001c0002t0001g0015
a0001c0002t0001g0034
a0001c0002t0001g0052
a0001c0002t0001g0101
a0001c0002t0001g0123
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0010g0217
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0153
a0001c0003t0019g0207
a0001c0005t0001g0070
a0001c0006t0007g0102
a0001c0006t0025g0113
a0001c0009t0002g0063
a0002c0017t0003g0194
a0004c0012t0037g0229
a0004c0012t0038g0230
 37 HG00733.hp1
HG00741.hp2
HG01069.hp2
others(34): Show 
HG00733.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01167.hp1
HG01167.hp2
HG01192.hp1
HG01516.hp2
HG02055.hp2
HG02109.hp1
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02965.hp1
HG02976.hp2
HG03098.hp2
HG03209.hp1
HG03834.hp2
HG03942.hp2
HG04199.hp2
NA18747.hp1
NA18941.hp1
NA18954.hp2
NA18965.hp1
NA18967.hp2
NA18971.hp2
NA18977.hp2
NA18978.hp2
NA19007.hp1
NA19009.hp2
NA19065.hp2
NA19066.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-8480_55-8475dup
others(6): Show 
c.55-8480_55-8475dupGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(1): Show 
TACACACAC
 31 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0033
others(28): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0033
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0106
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0003g0080
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0191
a0001c0001t0003g0210
a0001c0001t0017g0087
a0001c0001t0026g0114
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0035
a0001c0002t0001g0049
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0088
a0001c0002t0001g0195
a0001c0005t0001g0013
a0001c0005t0001g0083
 31 HG00280.hp1
HG00408.hp2
HG00558.hp1
others(28): Show 
HG00280.hp1
HG00408.hp2
HG00558.hp1
HG00558.hp2
HG00639.hp2
HG01106.hp2
HG01258.hp2
HG01928.hp1
HG02027.hp1
HG02027.hp2
HG02135.hp2
HG02155.hp2
HG03704.hp1
HG03710.hp1
HG04199.hp1
NA18941.hp2
NA18957.hp2
NA18967.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18982.hp1
NA18982.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA19007.hp2
NA19009.hp1
NA19065.hp1
NA19066.hp1
NA20300.hp1
 intron_variant MODIFIER c.55-8482_55-8475dup
others(8): Show 
c.55-8482_55-8475dupGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(3): Show 
TACACACACAC
 12 a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0081
others(9): Show 
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0081
a0001c0001t0002g0107
a0001c0001t0002g0108
a0001c0001t0003g0189
a0001c0002t0001g0046
a0001c0002t0001g0082
a0001c0002t0001g0218
a0001c0003t0004g0208
a0002c0008t0003g0196
a0009c0015t0002g0058
 12 HG00408.hp1
HG00621.hp2
HG01081.hp2
others(9): Show 
HG00408.hp1
HG00621.hp2
HG01081.hp2
HG01928.hp2
HG01975.hp1
HG02135.hp1
HG02258.hp2
HG02300.hp2
HG02523.hp2
HG02717.hp1
HG04184.hp2
NA18999.hp2
 intron_variant MODIFIER c.55-8484_55-8475dup
others(10): Show 
c.55-8484_55-8475dupGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(5): Show 
TACACACACACAC
 7 a0001c0001t0002g0007
a0001c0001t0003g0183
a0001c0002t0001g0001
others(4): Show 
a0001c0001t0002g0007
a0001c0001t0003g0183
a0001c0002t0001g0001
a0001c0002t0001g0012
a0001c0002t0001g0126
a0001c0005t0001g0047
a0001c0005t0001g0075
 8 HG01934.hp2
HG01981.hp2
HG02738.hp2
others(5): Show 
HG01934.hp2
HG01981.hp2
HG02738.hp2
HG03490.hp2
HG03492.hp1
NA19011.hp1
NA19011.hp2
NA19084.hp2
 intron_variant MODIFIER c.55-8486_55-8475dup
others(12): Show 
c.55-8486_55-8475dupGTGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(7): Show 
TACACACACACACAC
 3 a0001c0002t0001g0011
a0001c0002t0001g0065
a0001c0003t0004g0209
a0001c0002t0001g0011
a0001c0002t0001g0065
a0001c0003t0004g0209
 3 HG01975.hp2
HG02738.hp1
HG03195.hp2
HG01975.hp2
HG02738.hp1
HG03195.hp2
 intron_variant MODIFIER c.55-8488_55-8475dup
others(14): Show 
c.55-8488_55-8475dupGTGTGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(9): Show 
TACACACACACACACAC
 2 a0001c0001t0002g0016
a0001c0002t0001g0066
a0001c0001t0002g0016
a0001c0002t0001g0066
 2 HG01978.hp2
NA19084.hp1
HG01978.hp2
NA19084.hp1
 intron_variant MODIFIER c.55-8490_55-8475dup
others(16): Show 
c.55-8490_55-8475dupGTGTGTGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 T
T
 TACACACA
others(13): Show 
TACACACACACACACACACAC
 1 a0001c0002t0001g0089
a0001c0002t0001g0089
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.55-8494_55-8475dup
others(20): Show 
c.55-8494_55-8475dupGTGTGTGTGTGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 TAC
TAC
 T
T
 10 a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0117
others(7): Show 
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0117
a0001c0001t0003g0151
a0001c0002t0006g0174
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0024g0142
a0001c0005t0001g0116
a0003c0019t0008g0154
 10 HG00621.hp1
HG01081.hp1
HG01123.hp2
others(7): Show 
HG00621.hp1
HG01081.hp1
HG01123.hp2
HG02896.hp1
HG03490.hp1
HG06807.hp1
NA18522.hp2
NA18965.hp2
NA18971.hp1
NA19091.hp2
 intron_variant MODIFIER c.55-8476_55-8475del
others(2): Show 
c.55-8476_55-8475delGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 TACAC
TACAC
 T
T
 5 a0001c0002t0001g0170
a0001c0002t0008g0166
a0001c0002t0008g0177
others(2): Show 
a0001c0002t0001g0170
a0001c0002t0008g0166
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0003t0004g0172
 5 HG02723.hp2
HG02976.hp1
HG03098.hp1
others(2): Show 
HG02723.hp2
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
 intron_variant MODIFIER c.55-8478_55-8475del
others(4): Show 
c.55-8478_55-8475delGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 TACACAC
TACACAC
 T
T
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.55-8480_55-8475del
others(6): Show 
c.55-8480_55-8475delGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106715 TACACACA
others(3): Show 
TACACACACAC
 T
T
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.55-8484_55-8475del
others(10): Show 
c.55-8484_55-8475delGTGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106715
chr17:64106750 ACACACAC
others(6): Show 
ACACACACACACAC
 A
A
 2 a0001c0001t0009g0127
a0001c0001t0009g0133
a0001c0001t0009g0127
a0001c0001t0009g0133
 2 HG02257.hp2
HG02622.hp2
HG02257.hp2
HG02622.hp2
 intron_variant MODIFIER c.55-8522_55-8510del
others(13): Show 
c.55-8522_55-8510delGTGTGTGTGTGTG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106750
chr17:64106752 ACACACAC
others(4): Show 
ACACACACACAC
 A
A
 4 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
others(1): Show 
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0002t0006g0132
 4 HG02145.hp1
HG02886.hp2
HG03471.hp2
others(1): Show 
HG02145.hp1
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.55-8522_55-8512del
others(11): Show 
c.55-8522_55-8512delGTGTGTGTGTG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106752
chr17:64106760 ACAC
ACAC
 A
A
 6 a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
others(3): Show 
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0021g0219
 6 HG02257.hp1
HG02451.hp1
HG02572.hp1
others(3): Show 
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02809.hp2
HG03195.hp1
HG03540.hp2
 intron_variant MODIFIER c.55-8522_55-8520del
others(3): Show 
c.55-8522_55-8520delGTG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106760
chr17:64106763 C
C
 CA
CA
 7 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(4): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0004t0005g0003
 8 HG01106.hp1
HG01255.hp1
HG02055.hp1
others(5): Show 
HG01106.hp1
HG01255.hp1
HG02055.hp1
HG02109.hp2
HG02922.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.55-8523dupT
c.55-8523dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106763
chr17:64106763 C
C
 CACA
CACA
 8 a0001c0001t0003g0225
a0001c0002t0006g0028
a0001c0004t0005g0222
others(5): Show 
a0001c0001t0003g0225
a0001c0002t0006g0028
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
 8 HG01099.hp1
HG01891.hp1
HG02630.hp1
others(5): Show 
HG01099.hp1
HG01891.hp1
HG02630.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
NA21309.hp1
 intron_variant MODIFIER c.55-8523_55-8522ins
others(3): Show 
c.55-8523_55-8522insTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106763
chr17:64106763 C
C
 CACACA
CACACA
 4 a0001c0002t0011g0136
a0001c0002t0011g0138
a0001c0002t0012g0135
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0138
a0001c0002t0012g0135
a0003c0020t0003g0022
 4 HG01346.hp1
HG01884.hp2
HG02630.hp2
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02630.hp2
NA19240.hp1
 intron_variant MODIFIER c.55-8523_55-8522ins
others(5): Show 
c.55-8523_55-8522insTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64106763
chr17:64107658 C
C
 G
G
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-9417G>C
c.55-9417G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64107658
chr17:64107740 C
C
 A
A
 2 a0001c0001t0002g0061
a0001c0001t0002g0109
a0001c0001t0002g0061
a0001c0001t0002g0109
 2 HG03834.hp1
HG06807.hp2
HG03834.hp1
HG06807.hp2
 intron_variant MODIFIER c.55-9499G>T
c.55-9499G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64107740
chr17:64107744 T
T
 A
A
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-9503A>T
c.55-9503A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64107744
chr17:64108032 G
G
 C
C
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-9791C>G
c.55-9791C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108032
chr17:64108205 T
T
 TA
TA
 15 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(12): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
 16 HG01069.hp2
HG01071.hp2
HG01891.hp2
others(13): Show 
HG01069.hp2
HG01071.hp2
HG01891.hp2
HG01934.hp1
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02818.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
NA20300.hp2
 intron_variant MODIFIER c.55-9965dupT
c.55-9965dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108205
chr17:64108212 A
A
 G
G
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-9971T>C
c.55-9971T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108212
chr17:64108296 A
A
 G
G
 1 a0001c0002t0001g0218
a0001c0002t0001g0218
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.55-10055T>C
c.55-10055T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108296
chr17:64108369 C
C
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-10128G>A
c.55-10128G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108369
chr17:64108404 C
C
 T
T
 164 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(161): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0042
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0017g0067
a0001c0001t0027g0071
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0088
a0001c0002t0001g0089
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 167 HG00280.hp1
HG00280.hp2
HG00408.hp2
others(164): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp2
HG00558.hp2
HG00621.hp2
HG00639.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18954.hp1
NA18957.hp2
NA18965.hp1
NA18967.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18986.hp2
NA18999.hp1
NA19007.hp1
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19065.hp1
NA19066.hp1
NA19066.hp2
NA19084.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.55-10163G>A
c.55-10163G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108404
chr17:64108543 G
G
 C
C
 76 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(73): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 78 HG00280.hp2
HG01069.hp2
HG01071.hp2
others(75): Show 
HG00280.hp2
HG01069.hp2
HG01071.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.55-10302C>G
c.55-10302C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108543
chr17:64108548 A
A
 C
C
 1 a0001c0001t0017g0087
a0001c0001t0017g0087
 1 HG00558.hp1
HG00558.hp1
 intron_variant MODIFIER c.55-10307T>G
c.55-10307T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108548
chr17:64108858 C
C
 T
T
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-10617G>A
c.55-10617G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108858
chr17:64108923 G
G
 A
A
 1 a0001c0003t0004g0148
a0001c0003t0004g0148
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.55-10682C>T
c.55-10682C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108923
chr17:64108992 C
C
 T
T
 1 a0001c0002t0001g0011
a0001c0002t0001g0011
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.55-10751G>A
c.55-10751G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64108992
chr17:64109131 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.55-10890T>C
c.55-10890T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109131
chr17:64109135 G
G
 GA
GA
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-10895dupT
c.55-10895dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109135
chr17:64109385 G
G
 A
A
 2 a0001c0001t0003g0186
a0001c0001t0003g0200
a0001c0001t0003g0186
a0001c0001t0003g0200
 2 HG00673.hp1
NA18747.hp2
HG00673.hp1
NA18747.hp2
 intron_variant MODIFIER c.55-11144C>T
c.55-11144C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109385
chr17:64109525 G
G
 A
A
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-11284C>T
c.55-11284C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109525
chr17:64109626 C
C
 G
G
 4 a0001c0002t0001g0012
a0001c0002t0001g0065
a0001c0002t0001g0066
others(1): Show 
a0001c0002t0001g0012
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0126
 4 HG01975.hp2
HG01978.hp2
HG01981.hp2
others(1): Show 
HG01975.hp2
HG01978.hp2
HG01981.hp2
NA19084.hp2
 intron_variant MODIFIER c.55-11385G>C
c.55-11385G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109626
chr17:64109800 G
G
 A
A
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.55-11559C>T
c.55-11559C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109800
chr17:64109852 C
C
 T
T
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.55-11611G>A
c.55-11611G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64109852
chr17:64110063 G
G
 A
A
 1 a0001c0002t0001g0082
a0001c0002t0001g0082
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.55-11822C>T
c.55-11822C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110063
chr17:64110178 C
C
 T
T
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.55-11937G>A
c.55-11937G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110178
chr17:64110254 G
G
 A
A
 1 a0001c0006t0025g0113
a0001c0006t0025g0113
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.55-12013C>T
c.55-12013C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110254
chr17:64110716 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-12475C>T
c.55-12475C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110716
chr17:64110759 C
C
 T
T
 15 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(12): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 15 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(12): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-12518G>A
c.55-12518G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110759
chr17:64110808 C
C
 A
A
 1 a0001c0004t0018g0163
a0001c0004t0018g0163
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.55-12567G>T
c.55-12567G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110808
chr17:64110823 T
T
 C
C
 1 a0001c0005t0001g0083
a0001c0005t0001g0083
 1 NA19009.hp1
NA19009.hp1
 intron_variant MODIFIER c.55-12582A>G
c.55-12582A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110823
chr17:64110834 A
A
 G
G
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.55-12593T>C
c.55-12593T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64110834
chr17:64111266 T
T
 C
C
 1 a0001c0005t0001g0013
a0001c0005t0001g0013
 1 NA20300.hp1
NA20300.hp1
 intron_variant MODIFIER c.55-13025A>G
c.55-13025A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111266
chr17:64111319 C
C
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.55-13078G>A
c.55-13078G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111319
chr17:64111357 G
G
 GT
GT
 17 a0001c0001t0002g0212
a0001c0001t0003g0225
a0001c0001t0020g0010
others(14): Show 
a0001c0001t0002g0212
a0001c0001t0003g0225
a0001c0001t0020g0010
a0001c0002t0001g0218
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 18 HG00280.hp2
HG01099.hp1
HG01167.hp2
others(15): Show 
HG00280.hp2
HG01099.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp2
HG01891.hp1
HG01981.hp1
HG02145.hp2
HG02630.hp1
HG02717.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03209.hp1
HG03225.hp1
HG04184.hp1
NA21309.hp1
 intron_variant MODIFIER c.55-13117dupA
c.55-13117dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111357
chr17:64111357 G
G
 GTT
GTT
 5 a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
others(2): Show 
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
 5 HG02280.hp2
HG02559.hp2
HG02970.hp2
others(2): Show 
HG02280.hp2
HG02559.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
 intron_variant MODIFIER c.55-13118_55-13117d
others(4): Show 
c.55-13118_55-13117dupAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111357
chr17:64111416 C
C
 T
T
 2 a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0029
a0001c0002t0001g0030
 2 NA18967.hp1
NA19066.hp1
NA18967.hp1
NA19066.hp1
 intron_variant MODIFIER c.55-13175G>A
c.55-13175G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111416
chr17:64111424 C
C
 T
T
 4 a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0117
others(1): Show 
a0001c0001t0002g0085
a0001c0001t0002g0086
a0001c0001t0002g0117
a0001c0005t0001g0116
 4 HG00621.hp1
NA18965.hp2
NA18971.hp1
others(1): Show 
HG00621.hp1
NA18965.hp2
NA18971.hp1
NA19091.hp2
 intron_variant MODIFIER c.55-13183G>A
c.55-13183G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64111424
chr17:64112079 A
A
 C
C
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-13838T>G
c.55-13838T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112079
chr17:64112299 T
T
 C
C
 1 a0001c0001t0003g0192
a0001c0001t0003g0192
 1 NA19066.hp2
NA19066.hp2
 intron_variant MODIFIER c.55-14058A>G
c.55-14058A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112299
chr17:64112358 ACT
ACT
 A
A
 12 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(9): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
 12 HG01106.hp1
HG01255.hp1
HG02055.hp1
others(9): Show 
HG01106.hp1
HG01255.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02809.hp2
HG03195.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.55-14119_55-14118d
others(4): Show 
c.55-14119_55-14118delAG
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112358
chr17:64112367 C
C
 CA
CA
 16 a0001c0001t0002g0110
a0001c0001t0003g0112
a0001c0001t0009g0127
others(13): Show 
a0001c0001t0002g0110
a0001c0001t0003g0112
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0001t0020g0010
a0001c0002t0001g0011
a0001c0002t0006g0132
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0003t0004g0131
a0001c0005t0001g0111
a0001c0018t0004g0144
a0001c0022t0033g0155
 16 HG01978.hp1
HG01981.hp1
HG02145.hp1
others(13): Show 
HG01978.hp1
HG01981.hp1
HG02145.hp1
HG02148.hp1
HG02257.hp2
HG02273.hp1
HG02486.hp2
HG02622.hp2
HG02738.hp1
HG02886.hp2
HG02895.hp2
HG02897.hp2
HG02922.hp2
HG03471.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.55-14127dupT
c.55-14127dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112367
chr17:64112367 C
C
 CAA
CAA
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-14128_55-14127d
others(4): Show 
c.55-14128_55-14127dupTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112367
chr17:64112456 G
G
 T
T
 2 a0001c0001t0002g0033
a0001c0001t0002g0084
a0001c0001t0002g0033
a0001c0001t0002g0084
 2 NA18957.hp1
NA18982.hp1
NA18957.hp1
NA18982.hp1
 intron_variant MODIFIER c.55-14215C>A
c.55-14215C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112456
chr17:64112550 T
T
 A
A
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.55-14309A>T
c.55-14309A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112550
chr17:64112707 A
A
 G
G
 17 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(14): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 17 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(14): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.55-14466T>C
c.55-14466T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112707
chr17:64112740 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.55-14499C>T
c.55-14499C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64112740
chr17:64113029 T
T
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.55-14788A>G
c.55-14788A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64113029
chr17:64113129 G
G
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.55-14888C>T
c.55-14888C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64113129
chr17:64113703 A
A
 G
G
 1 a0001c0002t0006g0028
a0001c0002t0006g0028
 1 HG02818.hp2
HG02818.hp2
 intron_variant MODIFIER c.55-15462T>C
c.55-15462T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64113703
chr17:64113750 C
C
 T
T
 1 a0001c0001t0003g0115
a0001c0001t0003g0115
 1 HG02155.hp1
HG02155.hp1
 intron_variant MODIFIER c.55-15509G>A
c.55-15509G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64113750
chr17:64113794 T
T
 C
C
 7 a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
others(4): Show 
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
 7 HG01243.hp2
HG02723.hp1
HG02922.hp2
others(4): Show 
HG01243.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.55-15553A>G
c.55-15553A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64113794
chr17:64114070 TA
TA
 T
T
 135 a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
others(132): Show 
a0001c0001t0001g0045
a0001c0001t0001g0072
a0001c0001t0002g0004
a0001c0001t0002g0016
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0042
a0001c0001t0002g0076
a0001c0001t0002g0078
a0001c0001t0002g0079
a0001c0001t0002g0081
a0001c0001t0002g0125
a0001c0001t0002g0193
a0001c0001t0002g0212
a0001c0001t0003g0080
a0001c0001t0003g0183
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0001t0016g0077
a0001c0001t0017g0067
a0001c0001t0026g0114
a0001c0001t0027g0071
a0001c0001t0030g0182
a0001c0002t0001g0001
a0001c0002t0001g0005
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0029
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0065
a0001c0002t0001g0066
a0001c0002t0001g0068
a0001c0002t0001g0069
a0001c0002t0001g0073
a0001c0002t0001g0074
a0001c0002t0001g0082
a0001c0002t0001g0123
a0001c0002t0001g0126
a0001c0002t0001g0134
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0195
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0024g0142
a0001c0003t0004g0002
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0005t0001g0013
a0001c0005t0001g0047
a0001c0005t0001g0070
a0001c0005t0001g0075
a0001c0005t0001g0083
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0022t0033g0155
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 138 HG00280.hp1
HG00280.hp2
HG00558.hp2
others(135): Show 
HG00280.hp1
HG00280.hp2
HG00558.hp2
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp1
HG00673.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01515.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG06807.hp1
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18954.hp1
NA18954.hp2
NA18957.hp2
NA18965.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18986.hp1
NA18986.hp2
NA18999.hp1
NA18999.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19066.hp1
NA19066.hp2
NA19084.hp1
NA19084.hp2
NA19091.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.55-15830delT
c.55-15830delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114070
chr17:64114133 C
C
 T
T
 1 a0001c0002t0001g0020
a0001c0002t0001g0020
 1 HG03195.hp1
HG03195.hp1
 intron_variant MODIFIER c.54+15843G>A
c.54+15843G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114133
chr17:64114177 T
T
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+15799A>G
c.54+15799A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114177
chr17:64114236 C
C
 T
T
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0003t0004g0131
 7 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.54+15740G>A
c.54+15740G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114236
chr17:64114427 T
T
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+15549A>T
c.54+15549A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114427
chr17:64114559 G
G
 A
A
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+15417C>T
c.54+15417C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114559
chr17:64114625 T
T
 C
C
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.54+15351A>G
c.54+15351A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114625
chr17:64114637 G
G
 C
C
 2 a0007c0013t0014g0157
a0007c0013t0014g0158
a0007c0013t0014g0157
a0007c0013t0014g0158
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 intron_variant MODIFIER c.54+15339C>G
c.54+15339C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114637
chr17:64114885 C
C
 T
T
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+15091G>A
c.54+15091G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64114885
chr17:64115517 C
C
 T
T
 1 a0001c0001t0002g0064
a0001c0001t0002g0064
 1 HG01192.hp1
HG01192.hp1
 intron_variant MODIFIER c.54+14459G>A
c.54+14459G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115517
chr17:64115525 G
G
 C
C
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+14451C>G
c.54+14451C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115525
chr17:64115540 A
A
 C
C
 4 a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
others(1): Show 
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
 4 HG01346.hp1
HG01884.hp2
HG02809.hp1
others(1): Show 
HG01346.hp1
HG01884.hp2
HG02809.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+14436T>G
c.54+14436T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115540
chr17:64115623 C
C
 T
T
 1 a0001c0001t0002g0007
a0001c0001t0002g0007
 1 HG02738.hp2
HG02738.hp2
 intron_variant MODIFIER c.54+14353G>A
c.54+14353G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115623
chr17:64115681 G
G
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.54+14295C>A
c.54+14295C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115681
chr17:64115758 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+14218C>T
c.54+14218C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64115758
chr17:64116039 C
C
 T
T
 2 a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0152
a0001c0003t0004g0153
 2 HG02572.hp2
HG03209.hp1
HG02572.hp2
HG03209.hp1
 intron_variant MODIFIER c.54+13937G>A
c.54+13937G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116039
chr17:64116642 T
T
 TA
TA
 8 a0001c0001t0003g0225
a0001c0004t0005g0003
a0001c0004t0005g0222
others(5): Show 
a0001c0001t0003g0225
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
 9 HG01099.hp1
HG01891.hp1
HG02630.hp1
others(6): Show 
HG01099.hp1
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
NA21309.hp1
 intron_variant MODIFIER c.54+13333dupT
c.54+13333dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116642
chr17:64116654 A
A
 AAC
AAC
 20 a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
others(17): Show 
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0024g0142
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
 20 HG00733.hp2
HG00741.hp1
HG01069.hp1
others(17): Show 
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG01891.hp2
HG02647.hp1
HG02818.hp1
HG02965.hp2
HG02970.hp1
HG03209.hp2
HG03471.hp1
HG03490.hp1
HG03516.hp2
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.54+13320_54+13321d
others(4): Show 
c.54+13320_54+13321dupGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116654
chr17:64116654 A
A
 AACAC
AACAC
 2 a0001c0001t0002g0140
a0001c0001t0031g0006
a0001c0001t0002g0140
a0001c0001t0031g0006
 2 HG02027.hp1
HG02027.hp2
HG02027.hp1
HG02027.hp2
 intron_variant MODIFIER c.54+13318_54+13321d
others(6): Show 
c.54+13318_54+13321dupGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116654
chr17:64116654 A
A
 AACACACA
others(1): Show 
AACACACAC
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0145
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(13): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+13314_54+13321d
others(10): Show 
c.54+13314_54+13321dupGTGTGTGT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116654
chr17:64116763 C
C
 T
T
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.54+13213G>A
c.54+13213G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116763
chr17:64116842 T
T
 C
C
 4 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(1): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
 4 HG01255.hp1
HG02055.hp1
HG02109.hp2
others(1): Show 
HG01255.hp1
HG02055.hp1
HG02109.hp2
NA19240.hp2
 intron_variant MODIFIER c.54+13134A>G
c.54+13134A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116842
chr17:64116859 C
C
 CTTTG
CTTTG
 4 a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
others(1): Show 
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0002t0006g0132
 4 HG02145.hp1
HG02886.hp2
HG03471.hp2
others(1): Show 
HG02145.hp1
HG02886.hp2
HG03471.hp2
NA18906.hp1
 intron_variant MODIFIER c.54+13113_54+13116d
others(6): Show 
c.54+13113_54+13116dupCAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116859
chr17:64116894 G
G
 A
A
 14 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(11): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 14 HG01243.hp2
HG01884.hp1
HG02647.hp2
others(11): Show 
HG01243.hp2
HG01884.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+13082C>T
c.54+13082C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116894
chr17:64116920 C
C
 T
T
 6 a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
others(3): Show 
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
 6 HG02280.hp2
HG02559.hp2
HG02717.hp1
others(3): Show 
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
 intron_variant MODIFIER c.54+13056G>A
c.54+13056G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116920
chr17:64116931 T
T
 C
C
 17 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(14): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 17 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(14): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+13045A>G
c.54+13045A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116931
chr17:64116948 CA
CA
 C
C
 87 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(84): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0003c0020t0003g0022
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 88 HG00280.hp2
HG00733.hp2
HG00741.hp1
others(85): Show 
HG00280.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+13027delT
c.54+13027delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116948
chr17:64116975 T
T
 G
G
 103 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(100): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 105 HG00280.hp2
HG00733.hp2
HG00741.hp1
others(102): Show 
HG00280.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+13001A>C
c.54+13001A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116975
chr17:64116995 C
C
 T
T
 2 a0001c0001t0003g0186
a0001c0001t0003g0200
a0001c0001t0003g0186
a0001c0001t0003g0200
 2 HG00673.hp1
NA18747.hp2
HG00673.hp1
NA18747.hp2
 intron_variant MODIFIER c.54+12981G>A
c.54+12981G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64116995
chr17:64117138 A
A
 T
T
 27 a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0015g0220
others(24): Show 
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 28 HG01099.hp1
HG01243.hp2
HG01884.hp1
others(25): Show 
HG01099.hp1
HG01243.hp2
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG02572.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+12838T>A
c.54+12838T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117138
chr17:64117144 A
A
 T
T
 19 a0001c0001t0003g0151
a0001c0002t0006g0167
a0001c0002t0006g0173
others(16): Show 
a0001c0001t0003g0151
a0001c0002t0006g0167
a0001c0002t0006g0173
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 19 HG01109.hp2
HG01243.hp2
HG01884.hp1
others(16): Show 
HG01109.hp2
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02572.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+12832T>A
c.54+12832T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117144
chr17:64117169 G
G
 A
A
 1 a0001c0002t0001g0156
a0001c0002t0001g0156
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.54+12807C>T
c.54+12807C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117169
chr17:64117416 G
G
 T
T
 3 a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
a0001c0009t0002g0041
a0001c0009t0002g0062
a0001c0009t0002g0063
 3 HG01167.hp1
HG01243.hp1
HG01516.hp1
HG01167.hp1
HG01243.hp1
HG01516.hp1
 intron_variant MODIFIER c.54+12560C>A
c.54+12560C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117416
chr17:64117442 C
C
 CA
CA
 12 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(9): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
 12 HG01346.hp1
HG01884.hp2
HG02145.hp1
others(9): Show 
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+12533dupT
c.54+12533dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117442
chr17:64117717 C
C
 G
G
 1 a0001c0002t0011g0136
a0001c0002t0011g0136
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+12259G>C
c.54+12259G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117717
chr17:64117718 A
A
 G
G
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+12258T>C
c.54+12258T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117718
chr17:64117945 C
C
 G
G
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+12031G>C
c.54+12031G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64117945
chr17:64118163 T
T
 C
C
 23 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(20): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 23 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(20): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+11813A>G
c.54+11813A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64118163
chr17:64118199 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+11777C>T
c.54+11777C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64118199
chr17:64118311 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+11665G>A
c.54+11665G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64118311
chr17:64118498 T
T
 C
C
 2 a0006c0010t0022g0122
a0006c0010t0023g0121
a0006c0010t0022g0122
a0006c0010t0023g0121
 2 HG01069.hp1
HG01515.hp1
HG01069.hp1
HG01515.hp1
 intron_variant MODIFIER c.54+11478A>G
c.54+11478A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64118498
chr17:64118687 T
T
 C
C
 1 a0001c0003t0004g0131
a0001c0003t0004g0131
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.54+11289A>G
c.54+11289A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64118687
chr17:64119024 T
T
 A
A
 1 a0001c0006t0025g0113
a0001c0006t0025g0113
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.54+10952A>T
c.54+10952A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119024
chr17:64119238 G
G
 A
A
 13 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(10): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0003c0020t0003g0022
 13 HG01106.hp1
HG01255.hp1
HG02055.hp1
others(10): Show 
HG01106.hp1
HG01255.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG03195.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.54+10738C>T
c.54+10738C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119238
chr17:64119375 G
G
 GGTT
GGTT
 10 a0001c0001t0002g0212
a0001c0001t0009g0128
a0001c0002t0001g0218
others(7): Show 
a0001c0001t0002g0212
a0001c0001t0009g0128
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0004c0012t0037g0229
 10 HG01167.hp2
HG02145.hp1
HG02280.hp2
others(7): Show 
HG01167.hp2
HG02145.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
 intron_variant MODIFIER c.54+10598_54+10600d
others(5): Show 
c.54+10598_54+10600dupAAC
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119375
chr17:64119376 G
G
 GT
GT
 46 a0001c0001t0001g0045
a0001c0001t0002g0007
a0001c0001t0002g0009
others(43): Show 
a0001c0001t0001g0045
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0042
a0001c0001t0002g0050
a0001c0001t0002g0056
a0001c0001t0002g0057
a0001c0001t0002g0059
a0001c0001t0002g0060
a0001c0001t0002g0061
a0001c0001t0002g0125
a0001c0001t0002g0140
a0001c0001t0002g0141
a0001c0001t0003g0053
a0001c0001t0003g0054
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0186
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0020g0010
a0001c0001t0029g0055
a0001c0001t0031g0006
a0001c0002t0001g0011
a0001c0002t0001g0015
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0034
a0001c0002t0001g0043
a0001c0002t0001g0044
a0001c0002t0001g0046
a0001c0002t0001g0048
a0001c0002t0001g0049
a0001c0002t0001g0052
a0001c0002t0001g0126
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0005t0001g0047
a0001c0005t0001g0116
a0001c0009t0002g0041
a0002c0008t0034g0188
a0009c0015t0002g0058
a0010c0016t0002g0008
a0011c0023t0016g0051
 46 HG00408.hp1
HG00408.hp2
HG00621.hp1
others(43): Show 
HG00408.hp1
HG00408.hp2
HG00621.hp1
HG00673.hp1
HG00673.hp2
HG00733.hp1
HG01071.hp1
HG01106.hp2
HG01123.hp1
HG01243.hp1
HG01346.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02027.hp2
HG02135.hp1
HG02258.hp1
HG02572.hp2
HG02738.hp1
HG02738.hp2
HG03209.hp1
HG03710.hp1
HG03710.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG06807.hp2
NA18967.hp1
NA18967.hp2
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp1
NA18978.hp2
NA18986.hp2
NA19011.hp1
NA19011.hp2
NA19066.hp1
NA19066.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.54+10599dupA
c.54+10599dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 G
G
 GTTGTTTT
others(6): Show 
GTTGTTTTTTTTTT
 3 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
 3 HG02895.hp2
HG02897.hp2
HG03540.hp2
HG02895.hp2
HG02897.hp2
HG03540.hp2
 intron_variant MODIFIER c.54+10599_54+10600i
others(15): Show 
c.54+10599_54+10600insAAAAAAAAAACAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 G
G
 GTTGTTTT
others(15): Show 
GTTGTTTTTTTTTTTTTTTTTTT
 1 a0003c0019t0008g0154
a0003c0019t0008g0154
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.54+10599_54+10600i
others(24): Show 
c.54+10599_54+10600insAAAAAAAAAAAAAAAAAAACAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 G
G
 GTTGTTTT
others(16): Show 
GTTGTTTTTTTTTTTTTTTTTTTT
 1 a0001c0022t0033g0155
a0001c0022t0033g0155
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.54+10599_54+10600i
others(25): Show 
c.54+10599_54+10600insAAAAAAAAAAAAAAAAAAAACAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 G
G
 GTTGTTTT
others(17): Show 
GTTGTTTTTTTTTTTTTTTTTTTTT
 2 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0156
a0001c0002t0001g0168
 2 HG02055.hp2
HG02109.hp1
HG02055.hp2
HG02109.hp1
 intron_variant MODIFIER c.54+10599_54+10600i
others(26): Show 
c.54+10599_54+10600insAAAAAAAAAAAAAAAAAAAAACAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 GT
GT
 G
G
 13 a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0198
others(10): Show 
a0001c0001t0003g0115
a0001c0001t0003g0162
a0001c0001t0003g0198
a0001c0001t0026g0114
a0001c0002t0001g0170
a0001c0002t0008g0171
a0001c0002t0008g0179
a0001c0003t0004g0172
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0018g0163
a0005c0011t0012g0017
a0005c0011t0012g0124
 13 HG01891.hp2
HG02155.hp1
HG02559.hp1
others(10): Show 
HG01891.hp2
HG02155.hp1
HG02559.hp1
HG02723.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03098.hp1
HG03209.hp2
HG03516.hp2
NA18941.hp1
NA18941.hp2
NA20752.hp2
 intron_variant MODIFIER c.54+10599delA
c.54+10599delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 GTT
GTT
 G
G
 13 a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
others(10): Show 
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0177
a0001c0002t0024g0142
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0021t0018g0150
 13 HG00733.hp2
HG01081.hp1
HG01109.hp2
others(10): Show 
HG00733.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01934.hp1
HG02647.hp1
HG02818.hp1
HG02970.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.54+10598_54+10599d
others(4): Show 
c.54+10598_54+10599delAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 GTTT
GTTT
 G
G
 6 a0001c0002t0006g0178
a0001c0006t0007g0118
a0001c0006t0007g0119
others(3): Show 
a0001c0002t0006g0178
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0006c0010t0022g0122
a0006c0010t0023g0121
 6 HG00741.hp1
HG01069.hp1
HG01256.hp2
others(3): Show 
HG00741.hp1
HG01069.hp1
HG01256.hp2
HG01258.hp1
HG01515.hp1
HG02965.hp2
 intron_variant MODIFIER c.54+10597_54+10599d
others(5): Show 
c.54+10597_54+10599delAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 GTTTTTTT
GTTTTTTT
 G
G
 12 a0001c0001t0003g0151
a0001c0003t0004g0143
a0001c0003t0004g0145
others(9): Show 
a0001c0001t0003g0151
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0158
a0008c0014t0005g0211
 12 HG01243.hp2
HG01884.hp1
HG02647.hp2
others(9): Show 
HG01243.hp2
HG01884.hp1
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+10593_54+10599d
others(9): Show 
c.54+10593_54+10599delAAAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119376 GTTTTTTT
others(1): Show 
GTTTTTTTT
 G
G
 7 a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
others(4): Show 
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
 8 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(5): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02622.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+10592_54+10599d
others(10): Show 
c.54+10592_54+10599delAAAAAAAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119376
chr17:64119377 T
T
 TTG
TTG
 6 a0001c0001t0009g0127
a0001c0001t0009g0129
a0001c0001t0009g0130
others(3): Show 
a0001c0001t0009g0127
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0003t0004g0131
a0004c0012t0038g0230
 6 HG02257.hp2
HG02451.hp2
HG02622.hp2
others(3): Show 
HG02257.hp2
HG02451.hp2
HG02622.hp2
HG02886.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.54+10598_54+10599i
others(4): Show 
c.54+10598_54+10599insCA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119377
chr17:64119378 T
T
 TG
TG
 5 a0001c0001t0002g0021
a0001c0002t0001g0019
a0001c0002t0001g0139
others(2): Show 
a0001c0001t0002g0021
a0001c0002t0001g0019
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0222
 5 HG01106.hp1
HG01891.hp1
HG02055.hp1
others(2): Show 
HG01106.hp1
HG01891.hp1
HG02055.hp1
HG02257.hp1
HG02818.hp2
 intron_variant MODIFIER c.54+10597_54+10598i
others(3): Show 
c.54+10597_54+10598insC
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119378
chr17:64119379 T
T
 G
G
 19 a0001c0001t0002g0004
a0001c0001t0002g0024
a0001c0001t0002g0025
others(16): Show 
a0001c0001t0002g0004
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0004t0005g0003
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 20 HG01099.hp1
HG01255.hp1
HG01346.hp1
others(17): Show 
HG01099.hp1
HG01255.hp1
HG01346.hp1
HG01884.hp2
HG02109.hp2
HG02148.hp2
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+10597A>C
c.54+10597A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119379
chr17:64119380 T
T
 G
G
 2 a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0223
a0001c0004t0005g0224
 2 HG02896.hp2
HG02897.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.54+10596A>C
c.54+10596A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119380
chr17:64119381 T
T
 G
G
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.54+10595A>C
c.54+10595A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119381
chr17:64119385 T
T
 G
G
 2 a0001c0001t0003g0189
a0001c0001t0030g0182
a0001c0001t0003g0189
a0001c0001t0030g0182
 2 HG02135.hp2
HG02523.hp2
HG02135.hp2
HG02523.hp2
 intron_variant MODIFIER c.54+10591A>C
c.54+10591A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119385
chr17:64119387 T
T
 G
G
 7 a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
others(4): Show 
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
 8 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(5): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02622.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+10589A>C
c.54+10589A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119387
chr17:64119536 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+10440C>T
c.54+10440C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119536
chr17:64119739 G
G
 A
A
 1 a0001c0005t0001g0116
a0001c0005t0001g0116
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.54+10237C>T
c.54+10237C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64119739
chr17:64120073 T
T
 A
A
 1 a0001c0002t0024g0142
a0001c0002t0024g0142
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.54+9903A>T
c.54+9903A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120073
chr17:64120074 A
A
 T
T
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.54+9902T>A
c.54+9902T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120074
chr17:64120112 C
C
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+9864G>C
c.54+9864G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120112
chr17:64120328 C
C
 A
A
 8 a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
others(5): Show 
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
 8 HG01243.hp2
HG02647.hp2
HG02723.hp1
others(5): Show 
HG01243.hp2
HG02647.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03453.hp2
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.54+9648G>T
c.54+9648G>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120328
chr17:64120471 C
C
 CA
CA
 13 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(10): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
a0004c0012t0037g0229
a0004c0012t0038g0230
 14 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(11): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+9504dupT
c.54+9504dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120471
chr17:64120564 T
T
 C
C
 1 a0001c0001t0002g0117
a0001c0001t0002g0117
 1 NA19091.hp2
NA19091.hp2
 intron_variant MODIFIER c.54+9412A>G
c.54+9412A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120564
chr17:64120662 C
C
 G
G
 1 a0001c0001t0002g0004
a0001c0001t0002g0004
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.54+9314G>C
c.54+9314G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120662
chr17:64120685 A
A
 C
C
 3 a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
 3 HG02257.hp1
HG02451.hp1
HG03195.hp1
HG02257.hp1
HG02451.hp1
HG03195.hp1
 intron_variant MODIFIER c.54+9291T>G
c.54+9291T>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120685
chr17:64120971 C
C
 T
T
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.54+9005G>A
c.54+9005G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64120971
chr17:64121007 A
A
 G
G
 2 a0001c0001t0003g0189
a0001c0001t0030g0182
a0001c0001t0003g0189
a0001c0001t0030g0182
 2 HG02135.hp2
HG02523.hp2
HG02135.hp2
HG02523.hp2
 intron_variant MODIFIER c.54+8969T>C
c.54+8969T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121007
chr17:64121278 G
G
 T
T
 1 a0001c0002t0012g0135
a0001c0002t0012g0135
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.54+8698C>A
c.54+8698C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121278
chr17:64121330 A
A
 G
G
 3 a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
 3 HG01891.hp1
HG02896.hp2
HG02897.hp1
HG01891.hp1
HG02896.hp2
HG02897.hp1
 intron_variant MODIFIER c.54+8646T>C
c.54+8646T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121330
chr17:64121495 T
T
 A
A
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+8481A>T
c.54+8481A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121495
chr17:64121497 T
T
 TTTG
TTTG
 3 a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
 3 HG01106.hp1
HG02148.hp2
NA19043.hp1
HG01106.hp1
HG02148.hp2
NA19043.hp1
 intron_variant MODIFIER c.54+8476_54+8478dup
others(3): Show 
c.54+8476_54+8478dupCAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121497
chr17:64121725 G
G
 A
A
 16 a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
others(13): Show 
a0001c0001t0003g0151
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 16 HG01243.hp2
HG01884.hp1
HG02572.hp2
others(13): Show 
HG01243.hp2
HG01884.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+8251C>T
c.54+8251C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121725
chr17:64121776 T
T
 C
C
 77 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(74): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 79 HG00280.hp2
HG01069.hp2
HG01071.hp2
others(76): Show 
HG00280.hp2
HG01069.hp2
HG01071.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp2
HG02976.hp2
HG03098.hp2
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+8200A>G
c.54+8200A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121776
chr17:64121850 C
C
 T
T
 1 a0001c0001t0002g0212
a0001c0001t0002g0212
 1 HG01167.hp2
HG01167.hp2
 intron_variant MODIFIER c.54+8126G>A
c.54+8126G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64121850
chr17:64122166 A
A
 T
T
 1 a0001c0002t0021g0219
a0001c0002t0021g0219
 1 HG03540.hp2
HG03540.hp2
 intron_variant MODIFIER c.54+7810T>A
c.54+7810T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64122166
chr17:64122192 G
G
 T
T
 11 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(8): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 11 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG02145.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG04184.hp1
 intron_variant MODIFIER c.54+7784C>A
c.54+7784C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64122192
chr17:64122425 A
A
 G
G
 1 a0001c0001t0002g0040
a0001c0001t0002g0040
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.54+7551T>C
c.54+7551T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64122425
chr17:64122590 T
T
 C
C
 104 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(101): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0162
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0002
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0003
a0001c0004t0005g0205
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0006t0007g0118
a0001c0006t0007g0119
a0001c0006t0007g0120
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0006c0010t0022g0122
a0006c0010t0023g0121
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 106 HG00280.hp2
HG00733.hp2
HG00741.hp1
others(103): Show 
HG00280.hp2
HG00733.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp2
HG01258.hp1
HG01346.hp1
HG01515.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG04184.hp1
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+7386A>G
c.54+7386A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64122590
chr17:64122786 T
T
 C
C
 11 a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
others(8): Show 
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0001c0022t0033g0155
a0003c0019t0008g0154
 12 HG01069.hp2
HG01071.hp2
HG02055.hp2
others(9): Show 
HG01069.hp2
HG01071.hp2
HG02055.hp2
HG02109.hp1
HG02258.hp2
HG02486.hp2
HG02622.hp1
HG02896.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+7190A>G
c.54+7190A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64122786
chr17:64123069 C
C
 T
T
 23 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(20): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
a0001c0007t0001g0036
a0001c0007t0001g0037
a0001c0007t0001g0038
a0001c0007t0001g0039
 23 HG00280.hp2
HG01167.hp2
HG01255.hp2
others(20): Show 
HG00280.hp2
HG01167.hp2
HG01255.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02145.hp2
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG04184.hp1
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+6907G>A
c.54+6907G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123069
chr17:64123184 CA
CA
 C
C
 12 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(9): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
 12 HG01346.hp1
HG01884.hp2
HG02145.hp1
others(9): Show 
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+6791delT
c.54+6791delT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123184
chr17:64123241 G
G
 A
A
 2 a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0031
a0001c0002t0001g0032
 2 NA18957.hp2
NA18986.hp2
NA18957.hp2
NA18986.hp2
 intron_variant MODIFIER c.54+6735C>T
c.54+6735C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123241
chr17:64123364 C
C
 T
T
 1 a0001c0001t0009g0127
a0001c0001t0009g0127
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.54+6612G>A
c.54+6612G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123364
chr17:64123369 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+6607G>A
c.54+6607G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123369
chr17:64123408 G
G
 C
C
 2 a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0031
a0001c0002t0001g0032
 2 NA18957.hp2
NA18986.hp2
NA18957.hp2
NA18986.hp2
 intron_variant MODIFIER c.54+6568C>G
c.54+6568C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123408
chr17:64123444 T
T
 C
C
 12 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(9): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0021g0219
a0001c0003t0004g0131
 12 HG01346.hp1
HG01884.hp2
HG02145.hp1
others(9): Show 
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02809.hp1
HG02886.hp2
HG03471.hp2
HG03540.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+6532A>G
c.54+6532A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123444
chr17:64123872 G
G
 A
A
 2 a0001c0002t0001g0015
a0001c0002t0001g0123
a0001c0002t0001g0015
a0001c0002t0001g0123
 2 NA18978.hp2
NA19007.hp1
NA18978.hp2
NA19007.hp1
 intron_variant MODIFIER c.54+6104C>T
c.54+6104C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64123872
chr17:64124014 T
T
 C
C
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+5962A>G
c.54+5962A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124014
chr17:64124168 T
T
 A
A
 1 a0001c0022t0033g0155
a0001c0022t0033g0155
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.54+5808A>T
c.54+5808A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124168
chr17:64124444 G
G
 A
A
 1 a0001c0001t0003g0199
a0001c0001t0003g0199
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.54+5532C>T
c.54+5532C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124444
chr17:64124503 T
T
 C
C
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+5473A>G
c.54+5473A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124503
chr17:64124777 T
T
 C
C
 1 a0001c0001t0002g0016
a0001c0001t0002g0016
 1 NA19084.hp1
NA19084.hp1
 intron_variant MODIFIER c.54+5199A>G
c.54+5199A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124777
chr17:64124807 A
A
 G
G
 7 a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
others(4): Show 
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
a0001c0002t0001g0034
a0001c0002t0001g0035
a0001c0002t0001g0134
 7 NA18957.hp2
NA18967.hp1
NA18977.hp2
others(4): Show 
NA18957.hp2
NA18967.hp1
NA18977.hp2
NA18986.hp2
NA19065.hp1
NA19066.hp1
NA19091.hp1
 intron_variant MODIFIER c.54+5169T>C
c.54+5169T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124807
chr17:64124942 T
T
 G
G
 2 a0005c0011t0012g0017
a0005c0011t0012g0124
a0005c0011t0012g0017
a0005c0011t0012g0124
 2 HG03209.hp2
HG03516.hp2
HG03209.hp2
HG03516.hp2
 intron_variant MODIFIER c.54+5034A>C
c.54+5034A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124942
chr17:64124975 G
G
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+5001C>A
c.54+5001C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124975
chr17:64124983 C
C
 T
T
 2 a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0007g0180
a0001c0002t0007g0181
 2 HG01081.hp1
HG01123.hp2
HG01081.hp1
HG01123.hp2
 intron_variant MODIFIER c.54+4993G>A
c.54+4993G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64124983
chr17:64125111 G
G
 A
A
 20 a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
others(17): Show 
a0001c0001t0002g0212
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0218
a0001c0002t0006g0132
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0003t0004g0131
a0005c0011t0012g0017
a0005c0011t0012g0124
 20 HG01167.hp2
HG01346.hp1
HG01884.hp2
others(17): Show 
HG01167.hp2
HG01346.hp1
HG01884.hp2
HG02145.hp1
HG02257.hp2
HG02280.hp2
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp2
HG02970.hp2
HG02976.hp2
HG03209.hp2
HG03453.hp1
HG03471.hp2
HG03516.hp2
NA18522.hp1
NA18906.hp1
NA19240.hp1
 intron_variant MODIFIER c.54+4865C>T
c.54+4865C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125111
chr17:64125139 T
T
 C
C
 1 a0001c0021t0018g0150
a0001c0021t0018g0150
 1 HG01934.hp1
HG01934.hp1
 intron_variant MODIFIER c.54+4837A>G
c.54+4837A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125139
chr17:64125329 T
T
 C
C
 87 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(84): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 88 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(85): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+4647A>G
c.54+4647A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125329
chr17:64125393 T
T
 G
G
 1 a0001c0001t0003g0151
a0001c0001t0003g0151
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.54+4583A>C
c.54+4583A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125393
chr17:64125474 G
G
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+4502C>A
c.54+4502C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125474
chr17:64125605 C
C
 T
T
 1 a0001c0002t0006g0169
a0001c0002t0006g0169
 1 HG00733.hp2
HG00733.hp2
 intron_variant MODIFIER c.54+4371G>A
c.54+4371G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125605
chr17:64125632 G
G
 A
A
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+4344C>T
c.54+4344C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125632
chr17:64125699 G
G
 A
A
 14 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(11): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0003c0020t0003g0022
 14 HG01106.hp1
HG01255.hp1
HG02055.hp1
others(11): Show 
HG01106.hp1
HG01255.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG03195.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.54+4277C>T
c.54+4277C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125699
chr17:64125712 C
C
 T
T
 1 a0002c0008t0034g0188
a0002c0008t0034g0188
 1 HG01361.hp2
HG01361.hp2
 intron_variant MODIFIER c.54+4264G>A
c.54+4264G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125712
chr17:64125731 C
C
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+4245G>C
c.54+4245G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125731
chr17:64125768 C
C
 T
T
 85 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(82): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 86 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(83): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+4208G>A
c.54+4208G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125768
chr17:64125808 T
T
 C
C
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.54+4168A>G
c.54+4168A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125808
chr17:64125901 G
G
 A
A
 9 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(6): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0005c0011t0012g0017
a0005c0011t0012g0124
 9 HG01167.hp2
HG02280.hp2
HG02559.hp2
others(6): Show 
HG01167.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03209.hp2
HG03453.hp1
HG03516.hp2
 intron_variant MODIFIER c.54+4075C>T
c.54+4075C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125901
chr17:64125944 C
C
 T
T
 85 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(82): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 86 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(83): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+4032G>A
c.54+4032G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125944
chr17:64125969 A
A
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+4007T>C
c.54+4007T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64125969
chr17:64126251 C
C
 T
T
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+3725G>A
c.54+3725G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126251
chr17:64126390 C
C
 G
G
 3 a0001c0002t0001g0156
a0001c0022t0033g0155
a0003c0019t0008g0154
a0001c0002t0001g0156
a0001c0022t0033g0155
a0003c0019t0008g0154
 3 HG02109.hp1
HG02486.hp2
HG02896.hp1
HG02109.hp1
HG02486.hp2
HG02896.hp1
 intron_variant MODIFIER c.54+3586G>C
c.54+3586G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126390
chr17:64126437 A
A
 G
G
 3 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
 3 HG02895.hp2
HG02897.hp2
HG03540.hp2
HG02895.hp2
HG02897.hp2
HG03540.hp2
 intron_variant MODIFIER c.54+3539T>C
c.54+3539T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126437
chr17:64126456 T
T
 C
C
 1 a0001c0002t0001g0218
a0001c0002t0001g0218
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.54+3520A>G
c.54+3520A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126456
chr17:64126540 A
A
 G
G
 1 a0001c0001t0002g0033
a0001c0001t0002g0033
 1 NA18982.hp1
NA18982.hp1
 intron_variant MODIFIER c.54+3436T>C
c.54+3436T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126540
chr17:64126604 A
A
 G
G
 1 a0001c0004t0005g0228
a0001c0004t0005g0228
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.54+3372T>C
c.54+3372T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126604
chr17:64126687 G
G
 GA
GA
 87 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(84): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0002g0212
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0001g0218
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0002t0024g0142
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0003t0004g0172
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0003c0020t0003g0022
a0004c0012t0037g0229
a0004c0012t0038g0230
a0005c0011t0012g0017
a0005c0011t0012g0124
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 88 HG00733.hp2
HG01081.hp1
HG01099.hp1
others(85): Show 
HG00733.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp2
HG01243.hp2
HG01255.hp1
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp1
HG03130.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG06807.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+3288dupT
c.54+3288dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126687
chr17:64126789 T
T
 C
C
 7 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(4): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
 7 HG01167.hp2
HG02280.hp2
HG02559.hp2
others(4): Show 
HG01167.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
 intron_variant MODIFIER c.54+3187A>G
c.54+3187A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126789
chr17:64126846 T
T
 C
C
 2 a0001c0001t0003g0186
a0001c0001t0003g0200
a0001c0001t0003g0186
a0001c0001t0003g0200
 2 HG00673.hp1
NA18747.hp2
HG00673.hp1
NA18747.hp2
 intron_variant MODIFIER c.54+3130A>G
c.54+3130A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126846
chr17:64126932 G
G
 C
C
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 NA18973.hp1
NA18973.hp1
 intron_variant MODIFIER c.54+3044C>G
c.54+3044C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126932
chr17:64126941 C
C
 T
T
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+3035G>A
c.54+3035G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64126941
chr17:64127186 A
A
 G
G
 1 a0001c0002t0008g0179
a0001c0002t0008g0179
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.54+2790T>C
c.54+2790T>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127186
chr17:64127200 G
G
 A
A
 22 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(19): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
 23 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(20): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+2776C>T
c.54+2776C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127200
chr17:64127252 T
T
 G
G
 2 a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0015g0220
a0001c0002t0015g0221
 2 HG02895.hp2
HG02897.hp2
HG02895.hp2
HG02897.hp2
 intron_variant MODIFIER c.54+2724A>C
c.54+2724A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127252
chr17:64127269 A
A
 T
T
 18 a0001c0001t0002g0193
a0001c0001t0003g0183
a0001c0001t0003g0184
others(15): Show 
a0001c0001t0002g0193
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0030g0182
a0001c0002t0001g0195
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
 18 HG00408.hp2
HG00673.hp1
HG01074.hp2
others(15): Show 
HG00408.hp2
HG00673.hp1
HG01074.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG02135.hp2
HG02300.hp1
HG02523.hp2
HG03704.hp2
NA18747.hp2
NA18941.hp1
NA18954.hp2
NA18977.hp1
NA18999.hp1
NA19011.hp1
NA19066.hp2
 intron_variant MODIFIER c.54+2707T>A
c.54+2707T>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127269
chr17:64127393 G
G
 T
T
 4 a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
others(1): Show 
a0001c0002t0001g0029
a0001c0002t0001g0030
a0001c0002t0001g0031
a0001c0002t0001g0032
 4 NA18957.hp2
NA18967.hp1
NA18986.hp2
others(1): Show 
NA18957.hp2
NA18967.hp1
NA18986.hp2
NA19066.hp1
 intron_variant MODIFIER c.54+2583C>A
c.54+2583C>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127393
chr17:64127619 T
T
 G
G
 2 a0004c0012t0037g0229
a0004c0012t0038g0230
a0004c0012t0037g0229
a0004c0012t0038g0230
 2 HG02451.hp2
HG02486.hp1
HG02451.hp2
HG02486.hp1
 intron_variant MODIFIER c.54+2357A>C
c.54+2357A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127619
chr17:64127657 G
G
 C
C
 1 a0001c0002t0001g0126
a0001c0002t0001g0126
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.54+2319C>G
c.54+2319C>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127657
chr17:64127741 C
C
 T
T
 1 a0001c0002t0001g0001
a0001c0002t0001g0001
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.54+2235G>A
c.54+2235G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127741
chr17:64127742 G
G
 A
A
 7 a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
others(4): Show 
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0001t0009g0133
a0001c0002t0006g0132
a0001c0003t0004g0131
 7 HG02145.hp1
HG02257.hp2
HG02622.hp2
others(4): Show 
HG02145.hp1
HG02257.hp2
HG02622.hp2
HG02886.hp2
HG03471.hp2
NA18522.hp1
NA18906.hp1
 intron_variant MODIFIER c.54+2234C>T
c.54+2234C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127742
chr17:64127757 C
C
 CA
CA
 42 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(39): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0151
a0001c0001t0003g0225
a0001c0001t0009g0127
a0001c0001t0009g0128
a0001c0001t0009g0129
a0001c0001t0009g0130
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0001g0156
a0001c0002t0039g0231
a0001c0003t0004g0131
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0018t0004g0144
a0001c0021t0018g0150
a0003c0020t0003g0022
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 43 HG01099.hp1
HG01106.hp1
HG01243.hp2
others(40): Show 
HG01099.hp1
HG01106.hp1
HG01243.hp2
HG01255.hp1
HG01884.hp1
HG01891.hp1
HG01934.hp1
HG02055.hp1
HG02109.hp1
HG02109.hp2
HG02145.hp1
HG02148.hp2
HG02257.hp1
HG02257.hp2
HG02451.hp1
HG02572.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02886.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG03130.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+2218dupT
c.54+2218dupT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127757
chr17:64127757 C
C
 CAA
CAA
 5 a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0006g0028
others(2): Show 
a0001c0001t0009g0133
a0001c0002t0001g0005
a0001c0002t0006g0028
a0001c0002t0006g0132
a0001c0004t0005g0228
 5 HG02572.hp1
HG02622.hp2
HG02818.hp2
others(2): Show 
HG02572.hp1
HG02622.hp2
HG02818.hp2
HG02886.hp1
HG03471.hp2
 intron_variant MODIFIER c.54+2217_54+2218dup
others(2): Show 
c.54+2217_54+2218dupTT
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127757
chr17:64127791 T
T
 C
C
 7 a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
others(4): Show 
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
 8 HG01069.hp2
HG01071.hp2
HG02258.hp2
others(5): Show 
HG01069.hp2
HG01071.hp2
HG02258.hp2
HG02622.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
 intron_variant MODIFIER c.54+2185A>G
c.54+2185A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127791
chr17:64127910 CTA
CTA
 C
C
 17 a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
others(14): Show 
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
 17 HG00733.hp2
HG01081.hp1
HG01109.hp2
others(14): Show 
HG00733.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG02055.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.54+2064_54+2065del
others(2): Show 
c.54+2064_54+2065delTA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127910
chr17:64127984 C
C
 G
G
 1 a0001c0002t0001g0018
a0001c0002t0001g0018
 1 HG02451.hp1
HG02451.hp1
 intron_variant MODIFIER c.54+1992G>C
c.54+1992G>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64127984
chr17:64128007 C
C
 CT
CT
 23 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(20): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0001t0003g0225
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
a0003c0020t0003g0022
a0004c0012t0037g0229
 24 HG01099.hp1
HG01106.hp1
HG01255.hp1
others(21): Show 
HG01099.hp1
HG01106.hp1
HG01255.hp1
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03195.hp1
HG03225.hp1
NA19043.hp1
NA19240.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+1968dupA
c.54+1968dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128007
chr17:64128143 C
C
 T
T
 14 a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
others(11): Show 
a0001c0001t0002g0004
a0001c0001t0002g0021
a0001c0001t0002g0024
a0001c0001t0002g0025
a0001c0002t0001g0005
a0001c0002t0001g0018
a0001c0002t0001g0019
a0001c0002t0001g0020
a0001c0002t0001g0023
a0001c0002t0001g0026
a0001c0002t0001g0027
a0001c0002t0001g0139
a0001c0002t0006g0028
a0003c0020t0003g0022
 14 HG01106.hp1
HG01255.hp1
HG02055.hp1
others(11): Show 
HG01106.hp1
HG01255.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02451.hp1
HG02572.hp1
HG02630.hp2
HG02809.hp2
HG02818.hp2
HG03195.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.54+1833G>A
c.54+1833G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128143
chr17:64128161 A
A
 AT
AT
 26 a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
others(23): Show 
a0001c0001t0002g0004
a0001c0001t0002g0007
a0001c0001t0002g0009
a0001c0001t0002g0014
a0001c0001t0002g0016
a0001c0001t0002g0141
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0020g0010
a0001c0001t0030g0182
a0001c0001t0031g0006
a0001c0002t0001g0005
a0001c0002t0001g0011
a0001c0002t0001g0012
a0001c0002t0001g0015
a0001c0002t0001g0139
a0001c0002t0001g0168
a0001c0002t0006g0167
a0001c0002t0008g0166
a0001c0002t0021g0219
a0001c0005t0001g0013
a0005c0011t0012g0017
a0010c0016t0002g0008
 26 HG00408.hp2
HG00673.hp1
HG00738.hp2
others(23): Show 
HG00408.hp2
HG00673.hp1
HG00738.hp2
HG01106.hp1
HG01123.hp1
HG01981.hp1
HG02027.hp2
HG02055.hp2
HG02109.hp2
HG02135.hp2
HG02572.hp1
HG02647.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG03130.hp1
HG03516.hp2
HG03540.hp2
NA18978.hp1
NA18978.hp2
NA18999.hp1
NA19011.hp1
NA19084.hp1
NA19084.hp2
NA20300.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.54+1814dupA
c.54+1814dupA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128161
chr17:64128161 A
A
 ATT
ATT
 12 a0001c0001t0003g0151
a0001c0003t0004g0143
a0001c0003t0004g0145
others(9): Show 
a0001c0001t0003g0151
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0018t0004g0144
a0001c0021t0018g0150
a0008c0014t0005g0211
 12 HG01934.hp1
HG02572.hp2
HG02647.hp2
others(9): Show 
HG01934.hp1
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+1813_54+1814dup
others(2): Show 
c.54+1813_54+1814dupAA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128161
chr17:64128161 AT
AT
 A
A
 18 a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0002t0001g0134
others(15): Show 
a0001c0001t0003g0210
a0001c0001t0003g0225
a0001c0002t0001g0134
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0179
a0001c0002t0011g0136
a0001c0002t0011g0137
a0001c0002t0011g0138
a0001c0002t0012g0135
a0001c0002t0024g0142
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
 19 HG00280.hp1
HG01081.hp1
HG01099.hp1
others(16): Show 
HG00280.hp1
HG01081.hp1
HG01099.hp1
HG01123.hp2
HG01346.hp1
HG01884.hp2
HG01891.hp1
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG03225.hp1
HG03490.hp1
NA19091.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.54+1814delA
c.54+1814delA
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128161
chr17:64128260 C
C
 T
T
 3 a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 3 HG01891.hp2
HG02818.hp1
NA20300.hp2
HG01891.hp2
HG02818.hp1
NA20300.hp2
 intron_variant MODIFIER c.54+1716G>A
c.54+1716G>A
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128260
chr17:64128301 G
G
 A
A
 1 a0001c0002t0001g0139
a0001c0002t0001g0139
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.54+1675C>T
c.54+1675C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128301
chr17:64128394 T
T
 C
C
 1 a0001c0001t0002g0141
a0001c0001t0002g0141
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.54+1582A>G
c.54+1582A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128394
chr17:64128394 T
T
 G
G
 1 a0001c0001t0002g0140
a0001c0001t0002g0140
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.54+1582A>C
c.54+1582A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128394
chr17:64128414 T
T
 G
G
 17 a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
others(14): Show 
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0002t0024g0142
a0001c0003t0004g0172
 17 HG00733.hp2
HG01081.hp1
HG01109.hp2
others(14): Show 
HG00733.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG02055.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03490.hp1
HG06807.hp1
 intron_variant MODIFIER c.54+1562A>C
c.54+1562A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128414
chr17:64128654 T
T
 C
C
 20 a0001c0001t0003g0151
a0001c0002t0001g0156
a0001c0002t0039g0231
others(17): Show 
a0001c0001t0003g0151
a0001c0002t0001g0156
a0001c0002t0039g0231
a0001c0003t0004g0143
a0001c0003t0004g0145
a0001c0003t0004g0146
a0001c0003t0004g0147
a0001c0003t0004g0148
a0001c0003t0004g0149
a0001c0003t0004g0152
a0001c0003t0004g0153
a0001c0003t0004g0159
a0001c0003t0004g0160
a0001c0018t0004g0144
a0001c0021t0018g0150
a0001c0022t0033g0155
a0003c0019t0008g0154
a0007c0013t0014g0157
a0007c0013t0014g0158
a0008c0014t0005g0211
 20 HG01243.hp2
HG01884.hp1
HG01934.hp1
others(17): Show 
HG01243.hp2
HG01884.hp1
HG01934.hp1
HG02109.hp1
HG02486.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp2
HG02723.hp1
HG02896.hp1
HG02922.hp2
HG03130.hp2
HG03209.hp1
HG03453.hp2
HG03540.hp1
NA18522.hp2
NA18906.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
 intron_variant MODIFIER c.54+1322A>G
c.54+1322A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128654
chr17:64128939 T
T
 C
C
 2 a0001c0001t0003g0162
a0001c0001t0028g0161
a0001c0001t0003g0162
a0001c0001t0028g0161
 2 HG00738.hp1
NA20752.hp2
HG00738.hp1
NA20752.hp2
 intron_variant MODIFIER c.54+1037A>G
c.54+1037A>G
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64128939
chr17:64129007 G
G
 A
A
 19 a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
others(16): Show 
a0001c0002t0001g0168
a0001c0002t0001g0170
a0001c0002t0006g0167
a0001c0002t0006g0169
a0001c0002t0006g0173
a0001c0002t0006g0174
a0001c0002t0006g0175
a0001c0002t0006g0176
a0001c0002t0006g0178
a0001c0002t0007g0180
a0001c0002t0007g0181
a0001c0002t0008g0166
a0001c0002t0008g0171
a0001c0002t0008g0177
a0001c0002t0008g0179
a0001c0003t0004g0172
a0001c0004t0018g0163
a0001c0004t0035g0165
a0001c0004t0036g0164
 19 HG00733.hp2
HG01081.hp1
HG01109.hp2
others(16): Show 
HG00733.hp2
HG01081.hp1
HG01109.hp2
HG01123.hp2
HG01891.hp2
HG02055.hp2
HG02559.hp1
HG02647.hp1
HG02723.hp2
HG02818.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG06807.hp1
NA20300.hp2
 intron_variant MODIFIER c.54+969C>T
c.54+969C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64129007
chr17:64129078 G
G
 A
A
 31 a0001c0001t0002g0193
a0001c0001t0003g0183
a0001c0001t0003g0184
others(28): Show 
a0001c0001t0002g0193
a0001c0001t0003g0183
a0001c0001t0003g0184
a0001c0001t0003g0185
a0001c0001t0003g0186
a0001c0001t0003g0187
a0001c0001t0003g0189
a0001c0001t0003g0190
a0001c0001t0003g0191
a0001c0001t0003g0192
a0001c0001t0003g0197
a0001c0001t0003g0198
a0001c0001t0003g0199
a0001c0001t0003g0200
a0001c0001t0003g0201
a0001c0001t0003g0202
a0001c0001t0003g0203
a0001c0001t0003g0210
a0001c0001t0030g0182
a0001c0002t0001g0195
a0001c0002t0013g0204
a0001c0002t0013g0206
a0001c0003t0004g0002
a0001c0003t0004g0208
a0001c0003t0004g0209
a0001c0003t0019g0207
a0001c0004t0005g0205
a0002c0008t0003g0196
a0002c0008t0034g0188
a0002c0017t0003g0194
a0008c0014t0005g0211
 32 HG00280.hp1
HG00408.hp2
HG00639.hp1
others(29): Show 
HG00280.hp1
HG00408.hp2
HG00639.hp1
HG00673.hp1
HG01069.hp2
HG01071.hp2
HG01074.hp2
HG01361.hp1
HG01361.hp2
HG01928.hp1
HG01975.hp1
HG02135.hp2
HG02258.hp2
HG02300.hp1
HG02523.hp2
HG02622.hp1
HG02895.hp1
HG02965.hp1
HG03098.hp2
HG03195.hp2
HG03516.hp1
HG03704.hp2
HG03834.hp2
NA18747.hp2
NA18941.hp1
NA18954.hp2
NA18977.hp1
NA18999.hp1
NA19011.hp1
NA19043.hp2
NA19066.hp2
NA20129.hp2
 intron_variant MODIFIER c.54+898C>T
c.54+898C>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64129078
chr17:64129247 T
T
 A
A
 7 a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
others(4): Show 
a0001c0001t0002g0212
a0001c0002t0001g0218
a0001c0002t0010g0213
a0001c0002t0010g0214
a0001c0002t0010g0215
a0001c0002t0010g0216
a0001c0002t0010g0217
 7 HG01167.hp2
HG02280.hp2
HG02559.hp2
others(4): Show 
HG01167.hp2
HG02280.hp2
HG02559.hp2
HG02717.hp1
HG02970.hp2
HG02976.hp2
HG03453.hp1
 intron_variant MODIFIER c.54+729A>T
c.54+729A>T
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64129247
chr17:64129737 T
T
 G
G
 11 a0001c0001t0003g0225
a0001c0002t0015g0220
a0001c0002t0015g0221
others(8): Show 
a0001c0001t0003g0225
a0001c0002t0015g0220
a0001c0002t0015g0221
a0001c0002t0021g0219
a0001c0004t0005g0003
a0001c0004t0005g0222
a0001c0004t0005g0223
a0001c0004t0005g0224
a0001c0004t0005g0226
a0001c0004t0005g0227
a0001c0004t0005g0228
 12 HG01099.hp1
HG01891.hp1
HG02630.hp1
others(9): Show 
HG01099.hp1
HG01891.hp1
HG02630.hp1
HG02886.hp1
HG02895.hp2
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG03225.hp1
HG03540.hp2
NA21309.hp1
 intron_variant MODIFIER c.54+239A>C
c.54+239A>C
ERN1 ENSG00000178607.17 transcript ENST00000433197.4 protein_coding 1/21 chr17 64129737

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

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

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

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