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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   EPPK1_chr8_143852324_143883467  EPPK1_chr8_143852324_143883467 (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 83481
ensemblid ENSG00000261150.3
hgncid 15577
symbol EPPK1
name epiplakin 1
refseq_nuc NM_031308.4
refseq_prot NP_112598.3
ensembl_nuc ENST00000615648.2
ensembl_prot ENSP00000484472.1
mane_status MANE Select
chr chr8
start 143857324
end 143878467
strand -
ver v1.2
region chr8:143857324-143878467
region5000 chr8:143852324-143883467
regionname0 EPPK1_chr8_143857324_143878467
regionname5000 EPPK1_chr8_143852324_143883467

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/0 5086 34 2 5 25 2 0 19 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002 0/0 5086 9 4 0 4 0 1 4 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003 0/0 6148 7 0 5 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0004 0/0 4552 4 0 0 4 0 0 4 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0005 0/0 4552 4 1 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0006 0/0 4021 4 0 2 2 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007 0/0 4557 4 0 0 4 0 0 4 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0008 0/0 5092 4 0 4 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009 0/0 5092 3 0 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0010 0/0 4547 3 3 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0011 0/0 5609 3 3 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0012 0/0 5086 3 0 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0013 0/0 4549 3 0 0 3 0 0 3 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0014 0/0 4558 3 0 2 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015 0/0 5074 3 3 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016 0/0 5086 3 0 0 3 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0017 0/0 5084 3 0 0 3 0 0 3 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0018 0/0 5084 3 0 0 3 0 0 3 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019 0/0 5084 3 3 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020 0/0 4549 3 0 0 3 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0021 0/0 5092 3 0 0 3 0 0 3 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0022 0/0 5092 3 0 1 0 1 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023 0/0 5092 3 0 0 0 0 3 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0024 0/0 5617 2 2 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0025 0/0 4239 2 2 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0026 0/0 5092 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0027 0/0 3487 2 2 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0028 0/0 5086 2 0 0 2 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0029 0/0 7205 2 2 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0030 0/0 5092 2 0 0 1 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0031 0/0 5086 2 0 0 2 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0032 0/0 5086 2 0 0 2 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0033 0/0 5092 2 0 0 2 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0034 0/0 4024 2 0 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0035 0/0 4549 2 0 0 2 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0036 0/0 5086 2 0 0 2 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0037 0/0 5089 2 0 0 2 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0038 0/0 5092 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0039 0/0 4024 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0040 0/0 5090 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0041 0/0 5091 2 0 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0042 0/0 4024 2 0 1 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0043 0/0 5092 2 0 1 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0044 0/0 4557 2 0 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0045 0/0 4557 2 0 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0046 0/0 4024 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0047 0/0 4024 2 0 0 2 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0048 0/0 5086 2 0 1 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0049 0/0 5092 2 0 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0050 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0051 0/0 4024 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0052 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0053 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0054 0/0 6135 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0055 0/0 4020 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0056 0/0 6148 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0057 0/0 5083 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0058 0/0 6148 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0059 0/0 6148 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0060 0/0 6148 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0061 0/0 7205 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0062 0/0 7205 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0063 0/0 13469 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0064 0/0 4552 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0065 0/0 4554 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0066 0/0 4554 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0067 0/0 4020 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0068 0/0 5073 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0069 0/0 8267 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0070 0/0 8267 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0071 0/0 4018 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0072 0/0 7226 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0073 0/0 4240 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0074 0/0 4554 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0075 0/0 5083 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0076 0/0 6148 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0077 0/0 5086 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0078 0/0 4549 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0079 0/0 5083 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0080 0/0 5617 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0081 0/1 5617 1 0 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0082 0/0 6148 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0083 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0084 0/0 5086 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0085 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0086 0/0 3731 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0087 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0088 0/0 4552 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0089 0/0 4558 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0090 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0091 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0092 0/0 5083 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0093 0/0 2640 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0094 0/0 4558 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0095 0/0 4024 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0096 0/0 5093 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0097 0/0 6674 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0098 0/0 7222 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0099 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0100 0/0 13592 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0101 0/0 4552 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0102 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0103 0/0 5617 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0104 0/0 6140 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0105 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0106 0/0 7224 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0107 0/0 7222 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0108 0/0 7222 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0109 0/0 7222 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0110 0/0 8798 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0111 0/0 9329 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0112 0/0 8267 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0113 0/0 8267 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0114 0/0 8801 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0115 0/0 7205 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0116 0/0 7752 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0117 0/0 6148 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0118 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0119 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0120 0/0 5074 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0121 0/0 11459 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0122 0/0 6151 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0123 0/0 7733 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0124 0/0 9329 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0125 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0126 0/0 5086 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0127 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0128 0/0 3168 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0129 0/0 5083 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0130 0/0 6696 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0131 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0132 0/0 7205 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0133 0/0 6151 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0134 0/0 5088 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0135 0/0 5086 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0136 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0137 0/0 4552 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0138 0/0 4552 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0139 0/0 6154 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0140 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0141 0/0 9335 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0142 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0143 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0144 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0145 0/0 4555 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0146 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0147 0/0 4547 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0148 0/0 4555 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0149 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0150 0/0 4552 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0151 0/0 4549 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0152 0/0 3487 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0153 0/0 6695 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0154 0/0 5094 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0155 0/0 6162 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0156 0/0 6162 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0157 0/0 4558 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0158 0/0 6159 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0159 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0160 0/0 4543 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0161 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0162 0/0 5089 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0163 0/0 5090 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0164 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0165 0/0 5092 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0166 0/0 6148 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0167 0/0 4555 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0168 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0169 0/0 4552 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0170 1/0 5088 1 0 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0171 0/0 3102 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0172 0/0 5088 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0173 0/0 4078 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0174 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0175 0/0 5084 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0176 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0177 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0178 0/0 5086 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0179 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0180 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0181 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0182 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0183 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0184 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0185 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0186 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0187 0/0 5087 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0188 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0189 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0190 0/0 4553 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0191 0/0 6154 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0192 0/0 6151 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0193 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0194 0/0 6680 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0195 0/0 4555 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0196 0/0 2954 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0197 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0198 0/0 4772 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0199 0/0 4555 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0200 0/0 3176 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0201 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0202 0/0 5085 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0203 0/0 5083 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0204 0/0 4024 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0205 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0206 0/0 5092 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0207 0/0 5094 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0208 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0209 0/0 9329 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0210 0/0 2158 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0211 0/0 4023 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0212 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0213 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0214 0/0 5086 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0215 0/0 4557 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0216 0/0 4024 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0217 0/0 5626 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0218 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0219 0/0 5089 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0220 0/0 5086 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0221 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0222 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0223 0/0 3486 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0224 0/0 9869 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0225 0/0 6135 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0226 0/0 2535 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0227 0/0 5086 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0228 0/0 5083 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0229 0/0 4547 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0230 0/0 3181 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0231 0/0 5084 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0232 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0233 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0234 0/0 4552 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0235 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0236 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0237 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0238 0/0 2980 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0239 0/0 6154 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0240 0/0 4023 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0241 0/0 4024 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0242 0/0 5083 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0243 0/0 5617 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0244 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0245 0/0 2954 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0246 0/0 3488 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0247 0/0 5084 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0248 0/0 6683 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0249 0/0 6683 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0250 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0251 0/0 4016 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0252 0/0 4552 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0253 0/0 3175 1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0254 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0255 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0256 0/0 4558 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0257 0/0 6695 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0258 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0259 0/0 4024 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0260 0/0 4558 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0261 0/0 4557 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0262 0/0 4557 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0263 0/0 4558 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0264 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0265 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0266 0/0 3174 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0267 0/0 6145 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0268 0/0 2954 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0269 0/0 6160 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0270 0/0 5086 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0271 0/0 5086 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0272 0/0 3181 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0273 0/0 5626 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0274 0/0 4558 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0275 0/0 4413 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0276 0/0 5092 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0277 0/0 5093 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0278 0/0 7230 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0279 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0280 0/0 5092 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0281 0/0 4557 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0282 0/0 5093 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0283 0/0 5093 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0284 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0285 0/0 4024 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0286 0/0 5626 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0287 0/0 4024 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0288 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0289 0/0 4023 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0290 0/0 4557 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0291 0/0 4554 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0292 0/0 4023 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0293 0/0 5092 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0294 0/0 4025 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0295 0/0 4024 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0296 0/0 4024 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0297 0/0 5086 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0298 0/0 5086 1 0 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0299 0/0 5086 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0300 0/0 4021 1 0 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0301 0/0 4552 1 0 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0302 0/0 5089 1 0 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0303 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0304 0/0 5092 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0305 0/0 5089 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0306 0/0 5626 1 0 0 1 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/0 15261 17 0 3 14 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0002 0/0 15261 5 2 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0003 0/0 12066 4 0 2 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0004 0/0 13659 4 1 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0005 0/0 15261 4 0 0 4 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0006 0/0 15279 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0007 0/0 16830 3 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0008 0/0 18447 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0009 0/0 15261 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0010 0/0 15261 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0011 0/0 13659 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0012 0/0 15255 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0013 0/0 13674 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0014 0/0 13650 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0015 0/0 13644 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0016 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0017 0/0 15279 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0018 0/0 15273 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0019 0/0 15279 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0020 0/0 13674 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0021 0/0 15279 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0022 0/0 15276 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0023 0/0 12075 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0024 0/0 15279 2 0 0 0 1 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0025 0/0 12075 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0026 0/0 12075 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0027 0/0 13674 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0028 0/0 15279 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0029 0/0 16854 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0030 0/0 18447 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0031 0/0 18447 2 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0032 0/0 13650 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0033 0/0 15261 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0034 0/0 15255 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0035 0/0 15261 2 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0036 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0037 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0038 0/0 15255 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0039 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0040 0/0 21618 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0041 0/0 15225 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0042 0/0 10464 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0043 0/0 13650 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0044 0/0 13677 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0045 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0046 0/0 26397 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0047 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0048 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0049 0/0 40779 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0050 0/0 13644 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0051 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0052 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0053 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0054 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0055 0/0 21669 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0056 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0057 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0058 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0059 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0060 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0061 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0062 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0063 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0064 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0065 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0066 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0067 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0068 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0069 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0070 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0071 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0072 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0073 0/0 12066 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0074 0/0 21693 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0075 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0076 0/0 18465 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0077 0/0 15287 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0078 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0079 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0080 0/0 16882 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0081 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0082 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0083 0/0 20088 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0084 0/0 12051 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0085 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0086 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0087 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0088 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0089 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0090 0/0 16881 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0091 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0092 0/0 12075 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0093 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0094 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0095 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0096 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0097 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0098 0/0 15277 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0099 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0100 0/0 13677 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0101 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0102 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0103 0/0 13677 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0104 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0105 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0106 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0107 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0108 0/0 20052 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0109 0/0 20052 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0110 0/0 8865 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0111 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0112 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0113 0/0 10467 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0114 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0115 0/0 16854 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0116 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0117 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0118 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0119 0/0 12078 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0120 0/0 15269 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0121 0/0 15282 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0122 0/0 8865 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0123 0/0 18483 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0124 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0125 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0126 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0127 0/0 13665 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0128 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0129 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0130 0/0 15282 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0131 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0132 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0133 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0134 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0135 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0136 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0137 0/0 18438 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0138 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0139 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0140 0/0 15282 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0141 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0142 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0143 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0144 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0145 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0146 0/0 15222 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0147 0/0 12063 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0148 0/0 13665 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0149 0/0 13665 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0150 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0151 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0152 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0153 0/0 15252 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0154 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0155 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0156 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0157 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0158 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0159 0/0 40410 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0160 0/0 21681 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0161 0/0 32782 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0162 0/0 24817 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0163 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0164 0/0 21675 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0165 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0166 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0167 0/0 18423 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0168 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0169 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0170 0/0 16854 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0171 0/0 23259 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0172 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0173 0/0 26406 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0174 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0175 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0176 0/0 12076 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0177 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0178 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0179 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0180 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0181 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0182 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0183 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0184 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0185 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0186 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0187 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0188 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0189 0/0 18467 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0190 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0191 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0192 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0193 0/0 18447 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0194 0/1 16854 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0195 0/0 16854 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0196 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0197 0/0 15282 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0198 0/0 18447 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0199 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0200 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0201 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0202 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0203 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0204 0/0 29610 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0205 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0206 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0207 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0208 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0209 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0210 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0211 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0212 0/0 18447 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0213 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0214 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0215 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0216 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0217 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0218 0/0 15258 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0219 0/0 15285 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0220 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0221 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0222 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0223 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0224 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0225 0/0 13658 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0226 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0227 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0228 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0229 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0230 0/0 20043 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0231 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0232 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0233 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0234 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0235 0/0 18456 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0236 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0237 0/0 18465 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0238 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0239 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0240 0/0 15264 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0241 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0242 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0243 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0244 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0245 0/0 15255 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0246 0/0 8865 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0247 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0248 0/0 16864 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0249 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0250 0/0 13678 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0251 0/0 13662 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0252 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0253 0/0 18461 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0254 1/0 15267 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0255 0/0 15267 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0256 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0257 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0258 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0259 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0260 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0261 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0262 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0263 0/0 13674 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0264 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0265 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0266 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0267 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0268 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0269 0/0 13674 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0270 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0271 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0272 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0273 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0274 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0275 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0276 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0277 0/0 21629 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0278 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0279 0/0 20088 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0280 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0281 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0282 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0283 0/0 20091 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0284 0/0 15270 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0285 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0286 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0287 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0288 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0289 0/0 18480 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0290 0/0 18489 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0291 0/0 15285 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0292 0/0 18489 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0293 0/0 10464 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0294 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0295 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0296 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0297 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0298 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0299 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0300 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0301 0/0 28008 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0302 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0303 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0304 0/0 13644 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0305 0/0 15267 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0306 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0307 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0308 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0309 0/0 13668 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0310 0/0 18456 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0311 0/0 15252 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0312 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0313 0/0 15273 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0314 0/0 18465 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0315 0/0 18408 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0316 0/0 15225 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0317 0/0 13632 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0318 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0319 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0320 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0321 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0322 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0323 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0324 0/0 15255 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0325 0/0 10461 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0326 0/0 15233 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0327 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0328 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0329 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0330 0/0 20025 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0331 0/0 23202 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0332 0/0 15225 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0333 0/0 34380 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0334 0/0 18456 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0335 0/0 13665 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0336 0/0 13644 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0337 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0338 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0339 0/0 21681 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0340 0/0 18408 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0341 0/0 12063 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0342 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0343 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0344 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0345 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0346 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
c0347 0/0 12057 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 739 168 47 29 78 6 7 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0002 0/0 739 116 2 28 47 6 33 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0003 0/1 739 25 9 6 5 2 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0004 0/0 738 19 13 0 5 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0005 0/0 740 16 3 2 10 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0006 0/0 738 13 0 4 7 1 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0007 0/0 740 13 2 4 4 0 3 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0008 0/0 739 8 0 0 8 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0009 0/0 731 8 6 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0010 0/0 738 6 6 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0011 0/0 738 5 0 0 5 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0012 0/0 739 5 0 1 1 1 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0013 0/0 740 4 1 1 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0014 0/0 739 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0015 0/0 740 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0016 0/0 739 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0017 0/0 739 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0018 0/0 739 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0019 0/0 739 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0020 0/0 739 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0021 0/0 740 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0022 0/0 739 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0023 0/0 739 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0024 0/0 738 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0025 0/0 739 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0026 0/0 739 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
t0027 0/0 739 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 5 0 1 4 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0002 0/0 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0003 0/0 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0004 0/0 3 1 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0005 0/0 3 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0006 0/0 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0007 0/0 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0008 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0009 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0010 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0011 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0012 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0013 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0014 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0015 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0016 0/0 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0017 0/0 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0018 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0019 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0020 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0021 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0022 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0023 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0024 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0025 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0026 0/0 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0027 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0028 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0029 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0030 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0031 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0032 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0033 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0034 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0035 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0036 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0037 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0038 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0039 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0040 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0041 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0042 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0043 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0044 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0045 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0046 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0047 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0048 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0049 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0050 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0051 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0052 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0053 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0054 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0055 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0056 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0057 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0058 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0059 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0060 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0061 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0062 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0063 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0064 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0065 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0066 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0067 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0068 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0069 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0070 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0071 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0072 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0073 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0074 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0075 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0076 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0077 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0078 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0079 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0080 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0081 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0082 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0083 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0084 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0085 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0086 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0087 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0088 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0089 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0090 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0091 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0092 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0093 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0094 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0095 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0096 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0097 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0098 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0099 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0100 0/1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0101 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0102 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0103 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0104 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0105 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0106 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0107 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0108 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0109 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0110 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0111 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0112 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0113 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0114 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0115 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0116 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0117 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0118 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0119 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0120 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0121 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0122 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0123 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0124 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0125 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0126 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0127 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0128 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0129 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0130 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0131 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0132 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0133 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0134 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0135 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0136 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0137 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0138 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0139 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0140 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0141 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0142 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0143 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0144 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0145 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0146 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0147 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0148 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0149 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0150 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0151 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0152 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0153 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0154 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0155 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0156 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0157 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0158 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0159 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0160 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0161 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0162 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0163 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0164 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0165 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0166 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0167 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0168 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0169 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0170 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0171 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0172 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0173 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0174 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0175 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0176 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0177 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0178 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0179 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0180 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0181 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0182 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0183 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0184 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0185 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0186 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0187 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0188 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0189 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0190 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0191 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0192 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0193 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0194 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0195 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0196 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0197 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0198 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0199 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0200 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0201 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0202 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0203 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0204 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0205 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0206 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0207 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0208 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0209 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0210 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0211 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0212 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0213 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0214 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0215 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0216 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0217 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0218 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0219 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0220 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0221 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0222 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0223 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0224 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0225 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0226 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0227 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0228 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0229 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0230 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0231 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0232 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0233 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0234 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0235 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0236 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0237 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0238 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0239 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0240 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0241 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0242 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0243 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0244 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0245 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0246 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0247 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0248 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0249 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0250 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0251 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0252 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0253 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0254 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0255 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0256 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0257 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0258 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0259 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0260 1/0 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0261 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0262 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0263 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0264 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0265 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0266 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0267 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0268 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0269 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0270 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0271 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0272 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0273 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0274 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0275 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0276 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0277 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0278 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0279 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0280 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0281 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0282 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0283 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0284 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0285 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0286 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0287 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0288 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0289 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0290 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0291 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0292 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0293 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0294 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0295 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0296 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0297 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0298 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0299 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0300 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0301 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0302 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0303 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0304 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0305 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0306 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0307 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0308 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0309 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0310 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0311 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0312 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0313 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0314 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0315 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0316 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0317 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0318 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0319 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0320 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0321 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0322 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0323 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0324 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0325 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0326 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0327 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0328 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0329 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0330 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0331 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0332 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0333 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0334 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0335 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0336 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0337 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0338 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0339 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0340 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0341 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0342 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0343 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0344 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0345 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0346 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0347 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0348 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0349 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0350 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0351 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0352 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0353 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0354 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0355 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0356 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0357 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0358 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0359 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0360 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0361 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0362 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0363 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0364 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0365 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0366 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0367 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0368 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0369 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0370 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0371 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0372 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0373 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0374 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0375 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0376 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0377 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0378 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0379 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0380 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0381 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0382 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0383 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0384 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0385 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0386 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0387 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
g0388 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/0 15261 17 0 3 14 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0005 0/0 15261 4 0 0 4 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0010 0/0 15261 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0033 0/0 15261 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0035 0/0 15261 2 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0209 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0236 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0242 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0249 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0259 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0275 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0002 0/0 15261 5 2 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0296 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0299 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0318 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0320 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0008 0/0 18447 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0030 0/0 18447 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0031 0/0 18447 2 0 0 0 2 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0004c0011 0/0 13659 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0004c0234 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0005c0004 0/0 13659 4 1 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0006c0003 0/0 12066 4 0 2 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0013 0/0 13674 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0273 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0008c0017 0/0 15279 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0008c0021 0/0 15279 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0174 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0178 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0187 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0010c0015 0/0 13644 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0010c0050 0/0 13644 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0011c0007 0/0 16830 3 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0012c0009 0/0 15261 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0013c0014 0/0 13650 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0014c0044 0/0 13677 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0014c0280 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015c0041 0/0 15225 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015c0316 0/0 15225 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0312 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0319 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0322 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0017c0012 0/0 15255 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0018c0034 0/0 15255 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0018c0206 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019c0038 0/0 15255 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019c0245 0/0 15255 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020c0032 0/0 13650 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020c0223 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0021c0006 0/0 15279 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0022c0024 0/0 15279 2 0 0 0 1 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0022c0094 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0095 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0096 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0102 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0024c0029 0/0 16854 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0025c0161 0/0 32782 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0025c0162 0/0 24817 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0026c0185 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0026c0186 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0027c0042 0/0 10464 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0028c0039 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0029c0040 0/0 21618 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0030c0257 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0030c0258 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0031c0036 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0032c0037 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0033c0213 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0033c0268 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0034c0260 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0034c0261 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0035c0043 0/0 13650 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0036c0016 0/0 15261 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0037c0075 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0037c0143 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0038c0019 0/0 15279 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0039c0023 0/0 12075 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0040c0018 0/0 15273 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0041c0022 0/0 15276 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0042c0088 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0042c0092 0/0 12075 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0043c0085 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0043c0089 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0044c0020 0/0 13674 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0045c0027 0/0 13674 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0046c0026 0/0 12075 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0047c0025 0/0 12075 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0048c0060 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0048c0072 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0049c0028 0/0 15279 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0050c0346 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0051c0345 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0052c0056 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0053c0144 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0054c0340 0/0 18408 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0055c0341 0/0 12063 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0056c0158 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0057c0153 0/0 15252 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0058c0155 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0059c0152 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0060c0154 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0061c0157 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0062c0156 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0063c0159 0/0 40410 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0064c0150 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0065c0149 0/0 13665 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0066c0148 0/0 13665 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0067c0147 0/0 12063 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0068c0146 0/0 15222 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0069c0151 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0070c0145 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0071c0347 0/0 12057 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0072c0160 0/0 21681 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0073c0339 0/0 21681 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0074c0335 0/0 13665 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0075c0199 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0076c0198 0/0 18447 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0077c0175 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0078c0177 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0079c0342 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0080c0195 0/0 16854 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0081c0194 0/1 16854 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0082c0193 0/0 18447 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0083c0188 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0084c0191 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0085c0190 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0086c0189 0/0 18467 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0087c0192 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0088c0179 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0089c0183 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0090c0184 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0091c0180 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0092c0182 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0093c0176 0/0 12076 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0094c0181 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0095c0196 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0096c0197 0/0 15282 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0097c0330 0/0 20025 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0098c0055 0/0 21669 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0099c0054 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0100c0049 0/0 40779 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0101c0168 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0102c0169 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0103c0170 0/0 16854 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0104c0167 0/0 18423 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0105c0338 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0106c0164 0/0 21675 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0107c0166 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0108c0165 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0109c0163 0/0 21669 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0110c0046 0/0 26397 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0111c0047 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0112c0045 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0113c0048 0/0 24804 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0114c0173 0/0 26406 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0115c0172 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0116c0171 0/0 23259 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0117c0051 0/0 18447 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0118c0052 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0119c0053 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0120c0332 0/0 15225 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0121c0333 0/0 34380 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0122c0334 0/0 18456 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0123c0331 0/0 23202 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0124c0327 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0125c0200 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0126c0202 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0127c0203 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0128c0277 0/0 21629 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0129c0311 0/0 15252 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0130c0283 0/0 20091 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0131c0285 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0132c0286 0/0 21618 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0133c0310 0/0 18456 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0134c0305 0/0 15267 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0135c0300 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0136c0321 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0137c0297 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0138c0282 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0139c0314 0/0 18465 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0140c0298 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0141c0301 0/0 28008 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0142c0295 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0143c0308 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0144c0307 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0145c0309 0/0 13668 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0146c0302 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0147c0304 0/0 13644 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0148c0303 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0149c0294 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0150c0287 0/0 13659 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0151c0281 0/0 13650 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0152c0293 0/0 10464 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0153c0279 0/0 20088 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0154c0291 0/0 15285 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0155c0292 0/0 18489 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0156c0290 0/0 18489 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0157c0278 0/0 13677 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0158c0289 0/0 18480 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0159c0288 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0160c0317 0/0 13632 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0161c0306 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0162c0284 0/0 15270 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0163c0313 0/0 15273 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0164c0276 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0165c0207 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0166c0212 0/0 18447 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0167c0215 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0168c0216 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0169c0217 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0170c0254 1/0 15267 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0171c0253 0/0 18461 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0172c0255 0/0 15267 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0173c0225 0/0 13658 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0174c0323 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0175c0324 0/0 15255 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0176c0227 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0177c0228 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0178c0211 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0179c0229 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0180c0243 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0181c0244 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0182c0232 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0183c0239 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0184c0238 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0185c0210 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0186c0344 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0187c0240 0/0 15264 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0188c0241 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0189c0208 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0190c0251 0/0 13662 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0191c0237 0/0 18465 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0192c0235 0/0 18456 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0193c0233 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0194c0230 0/0 20043 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0195c0231 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0196c0246 0/0 8865 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0197c0247 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0198c0248 0/0 16864 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0199c0252 0/0 13668 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0200c0250 0/0 13678 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0201c0226 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0202c0218 0/0 15258 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0203c0224 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0204c0222 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0205c0256 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0206c0221 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0207c0219 0/0 15285 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0208c0220 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0209c0214 0/0 27990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0210c0263 0/0 13674 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0211c0262 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0212c0271 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0213c0270 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0214c0272 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0215c0269 0/0 13674 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0216c0264 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0217c0267 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0218c0266 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0219c0265 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0220c0274 0/0 15261 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0221c0201 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0222c0205 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0223c0325 0/0 10461 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0224c0204 0/0 29610 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0225c0315 0/0 18408 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0226c0326 0/0 15233 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0227c0329 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0228c0328 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0229c0336 0/0 13644 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0230c0337 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0231c0343 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0232c0057 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0233c0142 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0234c0065 0/0 13659 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0235c0068 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0236c0067 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0237c0139 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0238c0077 0/0 15287 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0239c0076 0/0 18465 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0240c0078 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0241c0079 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0242c0116 0/0 15252 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0243c0115 0/0 16854 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0244c0111 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0245c0110 0/0 8865 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0246c0113 0/0 10467 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0247c0112 0/0 15255 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0248c0109 0/0 20052 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0249c0108 0/0 20052 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0250c0114 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0251c0084 0/0 12051 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0252c0107 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0253c0080 0/0 16882 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0254c0081 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0255c0141 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0256c0082 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0257c0083 0/0 20088 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0258c0106 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0259c0097 0/0 12075 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0260c0103 0/0 13677 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0261c0105 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0262c0104 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0263c0100 0/0 13677 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0264c0099 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0265c0101 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0266c0098 0/0 15277 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0267c0137 0/0 18438 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0268c0122 0/0 8865 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0269c0123 0/0 18483 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0270c0093 0/0 15261 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0271c0138 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0272c0091 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0273c0090 0/0 16881 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0274c0135 0/0 13677 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0275c0120 0/0 15269 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0276c0133 0/0 15279 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0277c0121 0/0 15282 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0278c0074 0/0 21693 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0279c0087 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0280c0134 0/0 15279 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0281c0132 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0282c0140 0/0 15282 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0283c0130 0/0 15282 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0284c0131 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0285c0124 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0286c0061 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0287c0129 0/0 12075 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0288c0086 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0289c0126 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0290c0128 0/0 13674 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0291c0127 0/0 13665 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0292c0125 0/0 12072 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0293c0136 0/0 15279 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0294c0119 0/0 12078 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0295c0117 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0296c0118 0/0 12075 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0297c0071 0/0 15261 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0298c0070 0/0 15261 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0299c0059 0/0 15261 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0300c0073 0/0 12066 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0301c0069 0/0 13659 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0302c0066 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0303c0062 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0304c0064 0/0 15279 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0305c0063 0/0 15270 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0306c0058 0/0 16881 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/0 15999 16 0 3 13 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0001t0005 0/0 16000 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0005t0001 0/0 15999 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0005t0004 0/0 15998 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0010t0001 0/0 15999 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0033t0001 0/0 15999 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0035t0001 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0035t0004 0/0 15998 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0209t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0236t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0242t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0249t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0259t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0001c0275t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0002t0001 0/0 15999 5 2 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0296t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0299t0005 0/0 16000 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0318t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0002c0320t0008 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0008t0003 0/0 19185 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0030t0003 0/0 19185 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0031t0003 0/0 19185 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0003c0031t0024 0/0 19184 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0004c0011t0001 0/0 14397 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0004c0234t0005 0/0 14398 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0005c0004t0001 0/0 14397 4 1 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0006c0003t0001 0/0 12804 3 0 2 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0006c0003t0004 0/0 12803 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0013t0002 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0013t0006 0/0 14411 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0013t0012 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0007c0273t0002 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0008c0017t0002 0/0 16017 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0008c0021t0002 0/0 16017 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0174t0014 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0178t0014 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0009c0187t0014 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0010c0015t0001 0/0 14382 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0010c0050t0001 0/0 14382 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0011c0007t0001 0/0 17568 3 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0012c0009t0001 0/0 15999 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0013c0014t0008 0/0 14388 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0013c0014t0011 0/0 14387 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0014c0044t0002 0/0 14415 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0014c0280t0006 0/0 14414 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015c0041t0003 0/0 15963 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015c0041t0013 0/0 15964 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0015c0316t0003 0/0 15963 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0312t0008 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0319t0008 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0016c0322t0008 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0017c0012t0001 0/0 15993 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0018c0034t0001 0/0 15993 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0018c0206t0001 0/0 15993 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019c0038t0001 0/0 15993 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019c0038t0004 0/0 15992 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0019c0245t0001 0/0 15993 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020c0032t0008 0/0 14388 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020c0032t0015 0/0 14389 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0020c0223t0015 0/0 14389 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0021c0006t0002 0/0 16017 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0021c0006t0007 0/0 16018 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0022c0024t0002 0/0 16017 2 0 0 0 1 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0022c0094t0006 0/0 16016 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0095t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0096t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0023c0102t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0024c0029t0001 0/0 17592 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0025c0161t0001 0/0 33520 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0025c0162t0001 0/0 25555 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0026c0185t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0026c0186t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0027c0042t0001 0/0 11202 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0027c0042t0004 0/0 11201 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0028c0039t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0028c0039t0004 0/0 15998 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0029c0040t0001 0/0 22356 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0029c0040t0004 0/0 22355 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0030c0257t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0030c0258t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0031c0036t0001 0/0 15999 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0032c0037t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0032c0037t0004 0/0 15998 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0033c0213t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0033c0268t0006 0/0 16016 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0034c0260t0002 0/0 12813 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0034c0261t0006 0/0 12812 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0035c0043t0011 0/0 14387 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0036c0016t0001 0/0 15999 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0037c0075t0002 0/0 16008 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0037c0143t0002 0/0 16008 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0038c0019t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0038c0019t0012 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0039c0023t0002 0/0 12813 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0039c0023t0007 0/0 12814 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0040c0018t0002 0/0 16011 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0041c0022t0002 0/0 16014 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0042c0088t0002 0/0 12813 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0042c0092t0002 0/0 12813 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0043c0085t0026 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0043c0089t0002 0/0 16017 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0044c0020t0002 0/0 14412 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0045c0027t0002 0/0 14412 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0045c0027t0006 0/0 14411 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0046c0026t0002 0/0 12813 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0047c0025t0002 0/0 12813 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0048c0060t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0048c0072t0001 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0049c0028t0002 0/0 16017 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0050c0346t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0051c0345t0002 0/0 12813 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0052c0056t0018 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0053c0144t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0054c0340t0027 0/0 19146 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0055c0341t0016 0/0 12801 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0056c0158t0001 0/0 19185 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0057c0153t0001 0/0 15990 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0058c0155t0001 0/0 19185 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0059c0152t0001 0/0 19185 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0060c0154t0001 0/0 19185 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0061c0157t0004 0/0 22355 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0062c0156t0004 0/0 22355 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0063c0159t0004 0/0 41147 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0064c0150t0001 0/0 14397 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0065c0149t0002 0/0 14403 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0066c0148t0007 0/0 14404 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0067c0147t0002 0/0 12801 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0068c0146t0003 0/0 15960 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0069c0151t0004 0/0 25541 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0070c0145t0001 0/0 25542 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0071c0347t0001 0/0 12795 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0072c0160t0009 0/0 22411 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0073c0339t0009 0/0 22411 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0074c0335t0002 0/0 14403 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0075c0199t0003 0/0 15990 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0076c0198t0003 0/0 19185 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0077c0175t0012 0/0 15999 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0078c0177t0003 0/0 14388 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0079c0342t0003 0/0 15990 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0080c0195t0003 0/0 17592 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0081c0194t0003 0/1 17592 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0082c0193t0003 0/0 19185 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0083c0188t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0084c0191t0012 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0085c0190t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0086c0189t0001 0/0 19205 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0087c0192t0012 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0088c0179t0001 0/0 14397 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0089c0183t0002 0/0 14415 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0090c0184t0007 0/0 16018 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0091c0180t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0092c0182t0013 0/0 15991 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0093c0176t0007 0/0 12815 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0094c0181t0007 0/0 14416 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0095c0196t0002 0/0 12813 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0096c0197t0002 0/0 16020 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0097c0330t0004 0/0 20762 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0098c0055t0009 0/0 22399 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0099c0054t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0100c0049t0010 0/0 41516 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0101c0168t0005 0/0 14398 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0102c0169t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0103c0170t0005 0/0 17593 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0104c0167t0001 0/0 19161 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0105c0338t0007 0/0 16018 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0106c0164t0009 0/0 22405 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0107c0166t0009 0/0 22399 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0108c0165t0009 0/0 22399 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0109c0163t0009 0/0 22399 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0110c0046t0010 0/0 27134 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0111c0047t0010 0/0 28727 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0112c0045t0010 0/0 25541 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0113c0048t0010 0/0 25541 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0114c0173t0001 0/0 27144 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0115c0172t0001 0/0 22356 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0116c0171t0009 0/0 23989 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0117c0051t0004 0/0 19184 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0118c0052t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0119c0053t0004 0/0 15998 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0120c0332t0003 0/0 15963 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0121c0333t0004 0/0 35117 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0122c0334t0003 0/0 19194 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0123c0331t0004 0/0 23939 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0124c0327t0005 0/0 28729 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0125c0200t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0126c0202t0001 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0127c0203t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0128c0277t0022 0/0 22367 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0129c0311t0013 0/0 15991 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0130c0283t0006 0/0 20828 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0131c0285t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0132c0286t0004 0/0 22355 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0133c0310t0003 0/0 19194 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0134c0305t0001 0/0 16005 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0135c0300t0001 0/0 15999 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0136c0321t0008 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0137c0297t0001 0/0 14397 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0138c0282t0001 0/0 14397 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0139c0314t0019 0/0 19203 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0140c0298t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0141c0301t0001 0/0 28746 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0142c0295t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0143c0308t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0144c0307t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0145c0309t0001 0/0 14406 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0146c0302t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0147c0304t0001 0/0 14382 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0148c0303t0001 0/0 14406 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0149c0294t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0150c0287t0001 0/0 14397 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0151c0281t0008 0/0 14388 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0152c0293t0001 0/0 11202 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0153c0279t0002 0/0 20826 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0154c0291t0002 0/0 16023 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0155c0292t0002 0/0 19227 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0156c0290t0002 0/0 19227 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0157c0278t0002 0/0 14415 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0158c0289t0002 0/0 19218 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0159c0288t0023 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0160c0317t0003 0/0 14370 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0161c0306t0005 0/0 16000 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0162c0284t0002 0/0 16008 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0163c0313t0002 0/0 16011 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0164c0276t0006 0/0 16016 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0165c0207t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0166c0212t0003 0/0 19185 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0167c0215t0005 0/0 14407 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0168c0216t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0169c0217t0001 0/0 14397 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0170c0254t0001 1/0 16005 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0171c0253t0001 0/0 19199 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0172c0255t0001 0/0 16005 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0173c0225t0005 0/0 14397 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0174c0323t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0175c0324t0001 0/0 15993 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0176c0227t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0177c0228t0005 0/0 16000 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0178c0211t0001 0/0 15999 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0179c0229t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0180c0243t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0181c0244t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0182c0232t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0183c0239t0017 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0184c0238t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0185c0210t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0186c0344t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0187c0240t0001 0/0 16002 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0188c0241t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0189c0208t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0190c0251t0001 0/0 14400 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0191c0237t0001 0/0 19203 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0192c0235t0001 0/0 19194 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0193c0233t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0194c0230t0021 0/0 20782 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0195c0231t0001 0/0 14406 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0196c0246t0001 0/0 9603 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0197c0247t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0198c0248t0001 0/0 17602 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0199c0252t0001 0/0 14406 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0200c0250t0001 0/0 14416 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0201c0226t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0202c0218t0002 0/0 15996 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0203c0224t0005 0/0 15991 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0204c0222t0001 0/0 12813 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0205c0256t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0206c0221t0002 0/0 16017 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0207c0219t0006 0/0 16022 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0208c0220t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0209c0214t0010 0/0 28727 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0210c0263t0002 0/0 14412 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0211c0262t0002 0/0 12810 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0212c0271t0004 0/0 15998 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0213c0270t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0214c0272t0001 0/0 15999 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0215c0269t0002 0/0 14412 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0216c0264t0002 0/0 12813 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0217c0267t0002 0/0 17619 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0218c0266t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0219c0265t0002 0/0 16008 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0220c0274t0001 0/0 15999 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0221c0201t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0222c0205t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0223c0325t0016 0/0 11199 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0224c0204t0005 0/0 30349 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0225c0315t0003 0/0 19146 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0226c0326t0005 0/0 15972 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0227c0329t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0228c0328t0003 0/0 15990 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0229c0336t0011 0/0 14381 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0230c0337t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0231c0343t0001 0/0 15993 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0232c0057t0002 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0233c0142t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0234c0065t0005 0/0 14398 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0235c0068t0002 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0236c0067t0002 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0237c0139t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0238c0077t0002 0/0 16025 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0239c0076t0002 0/0 19203 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0240c0078t0002 0/0 12810 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0241c0079t0002 0/0 12813 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0242c0116t0003 0/0 15990 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0243c0115t0013 0/0 17593 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0244c0111t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0245c0110t0002 0/0 9603 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0246c0113t0002 0/0 11205 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0247c0112t0001 0/0 15993 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0248c0109t0005 0/0 20791 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0249c0108t0001 0/0 20790 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0250c0114t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0251c0084t0005 0/0 12790 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0252c0107t0001 0/0 14397 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0253c0080t0007 0/0 17621 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0254c0081t0002 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0255c0141t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0256c0082t0002 0/0 14415 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0257c0083t0002 0/0 20826 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0258c0106t0002 0/0 16017 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0259c0097t0002 0/0 12813 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0260c0103t0002 0/0 14415 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0261c0105t0002 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0262c0104t0002 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0263c0100t0002 0/0 14415 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0264c0099t0007 0/0 16018 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0265c0101t0025 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0266c0098t0002 0/0 16015 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0267c0137t0003 0/0 19176 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0268c0122t0002 0/0 9603 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0269c0123t0002 0/0 19221 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0270c0093t0001 0/0 15999 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0271c0138t0001 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0272c0091t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0273c0090t0007 0/0 17620 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0274c0135t0007 0/0 14416 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0275c0120t0002 0/0 16007 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0276c0133t0007 0/0 16018 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0277c0121t0002 0/0 16020 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0278c0074t0002 0/0 22431 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0279c0087t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0280c0134t0006 0/0 16016 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0281c0132t0002 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0282c0140t0002 0/0 16020 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0283c0130t0002 0/0 16020 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0284c0131t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0285c0124t0007 0/0 12814 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0286c0061t0002 0/0 17619 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0287c0129t0002 0/0 12813 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0288c0086t0002 0/0 16017 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0289c0126t0002 0/0 12810 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0290c0128t0001 0/0 14412 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0291c0127t0002 0/0 14403 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0292c0125t0002 0/0 12810 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0293c0136t0002 0/0 16017 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0294c0119t0002 0/0 12816 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0295c0117t0002 0/0 12813 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0296c0118t0002 0/0 12813 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0297c0071t0001 0/0 15999 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0298c0070t0020 0/0 15999 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0299c0059t0001 0/0 15999 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0300c0073t0001 0/0 12804 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0301c0069t0001 0/0 14397 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0302c0066t0002 0/0 16008 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0303c0062t0006 0/0 16016 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0304c0064t0006 0/0 16016 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0305c0063t0006 0/0 16007 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467
a0306c0058t0002 0/0 17619 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 copy fasta chr8 143852324 143883467

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 5 0 1 4 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0008 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0019 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0025 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0093 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0095 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0191 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0308 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0001g0386 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0001t0005g0151 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0005t0001g0123 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0005t0001g0180 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0005t0001g0335 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0005t0004g0192 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0010t0001g0009 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0010t0001g0117 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0033t0001g0017 0/0 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0035t0001g0179 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0035t0004g0178 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0209t0001g0116 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0236t0001g0327 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0242t0001g0124 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0249t0001g0126 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0259t0001g0314 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0001c0275t0001g0262 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0002t0001g0003 0/0 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0002t0001g0074 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0002t0001g0076 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0296t0001g0215 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0299t0005g0092 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0318t0001g0142 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0002c0320t0008g0143 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0003c0008t0003g0027 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0003c0008t0003g0360 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0003c0030t0003g0010 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0003c0031t0003g0369 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0003c0031t0024g0368 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0004c0011t0001g0006 0/0 3 0 0 3 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0004c0234t0005g0268 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0005c0004t0001g0004 0/0 3 1 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0005c0004t0001g0267 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0006c0003t0001g0011 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0006c0003t0001g0385 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0006c0003t0004g0230 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0007c0013t0002g0134 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0007c0013t0006g0133 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0007c0013t0012g0132 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0007c0273t0002g0131 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0008c0017t0002g0014 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0008c0021t0002g0015 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0009c0174t0014g0357 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0009c0178t0014g0350 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0009c0187t0014g0229 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0010c0015t0001g0202 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0010c0015t0001g0203 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0010c0050t0001g0204 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0011c0007t0001g0005 0/0 3 3 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0012c0009t0001g0002 0/0 3 0 3 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0013c0014t0008g0137 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0013c0014t0011g0021 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0014c0044t0002g0018 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0014c0280t0006g0379 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0015c0041t0003g0140 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0015c0041t0013g0097 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0015c0316t0003g0227 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0016c0312t0008g0189 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0016c0319t0008g0249 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0016c0322t0008g0145 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0017c0012t0001g0065 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0017c0012t0001g0066 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0017c0012t0001g0104 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0018c0034t0001g0012 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0018c0206t0001g0115 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0019c0038t0001g0209 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0019c0038t0004g0125 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0019c0245t0001g0210 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0020c0032t0008g0098 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0020c0032t0015g0087 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0020c0223t0015g0388 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0021c0006t0002g0028 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0021c0006t0007g0037 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0022c0024t0002g0153 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0022c0024t0002g0169 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0022c0094t0006g0152 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0023c0095t0002g0294 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0023c0096t0002g0318 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0023c0102t0002g0342 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0024c0029t0001g0007 0/0 2 2 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0025c0161t0001g0196 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0025c0162t0001g0033 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0026c0185t0002g0354 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0026c0186t0002g0355 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0027c0042t0001g0035 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0027c0042t0004g0034 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0028c0039t0001g0198 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0028c0039t0004g0197 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0029c0040t0001g0060 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0029c0040t0004g0056 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0030c0257t0002g0243 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0030c0258t0002g0244 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0031c0036t0001g0013 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0032c0037t0001g0328 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0032c0037t0004g0122 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0033c0213t0002g0118 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0033c0268t0006g0077 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0034c0260t0002g0128 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0034c0261t0006g0183 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0035c0043t0011g0079 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0035c0043t0011g0149 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0036c0016t0001g0022 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0037c0075t0002g0316 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0037c0143t0002g0384 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0038c0019t0002g0245 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0038c0019t0012g0163 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0039c0023t0002g0278 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0039c0023t0007g0346 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0040c0018t0002g0026 0/0 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0041c0022t0002g0023 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0042c0088t0002g0371 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0042c0092t0002g0377 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0043c0085t0026g0165 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0043c0089t0002g0042 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0044c0020t0002g0020 0/0 2 0 2 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0045c0027t0002g0363 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0045c0027t0006g0362 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0046c0026t0002g0302 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0046c0026t0002g0347 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0047c0025t0002g0024 0/0 2 0 0 2 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0048c0060t0001g0333 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0048c0072t0001g0159 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0049c0028t0002g0016 0/0 2 0 0 0 0 2 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0050c0346t0001g0306 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0051c0345t0002g0280 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0052c0056t0018g0283 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0053c0144t0002g0349 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0054c0340t0027g0045 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0055c0341t0016g0255 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0056c0158t0001g0048 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0057c0153t0001g0049 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0058c0155t0001g0047 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0059c0152t0001g0274 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0060c0154t0001g0046 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0061c0157t0004g0237 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0062c0156t0004g0241 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0063c0159t0004g0059 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0064c0150t0001g0051 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0065c0149t0002g0219 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0066c0148t0007g0218 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0067c0147t0002g0217 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0068c0146t0003g0213 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0069c0151t0004g0052 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0070c0145t0001g0236 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0071c0347t0001g0063 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0072c0160t0009g0036 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0073c0339t0009g0039 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0074c0335t0002g0307 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0075c0199t0003g0340 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0076c0198t0003g0228 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0077c0175t0012g0358 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0078c0177t0003g0339 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0079c0342t0003g0338 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0080c0195t0003g0370 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0081c0194t0003g0100 0/1 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0082c0193t0003g0376 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0083c0188t0001g0366 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0084c0191t0012g0041 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0085c0190t0001g0348 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0086c0189t0001g0367 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0087c0192t0012g0359 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0088c0179t0001g0341 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0089c0183t0002g0352 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0090c0184t0007g0353 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0091c0180t0002g0374 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0092c0182t0013g0351 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0093c0176t0007g0106 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0094c0181t0007g0378 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0095c0196t0002g0356 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0096c0197t0002g0101 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0097c0330t0004g0273 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0098c0055t0009g0211 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0099c0054t0001g0103 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0100c0049t0010g0040 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0101c0168t0005g0238 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0102c0169t0001g0239 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0103c0170t0005g0240 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0104c0167t0001g0208 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0105c0338t0007g0287 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0106c0164t0009g0224 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0107c0166t0009g0226 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0108c0165t0009g0225 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0109c0163t0009g0223 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0110c0046t0010g0071 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0111c0047t0010g0072 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0112c0045t0010g0070 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0113c0048t0010g0216 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0114c0173t0001g0064 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0115c0172t0001g0221 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0116c0171t0009g0200 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0117c0051t0004g0205 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0118c0052t0001g0206 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0119c0053t0004g0207 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0120c0332t0003g0252 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0121c0333t0004g0253 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0122c0334t0003g0254 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0123c0331t0004g0251 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0124c0327t0005g0222 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0125c0200t0001g0289 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0126c0202t0001g0112 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0127c0203t0001g0113 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0128c0277t0022g0032 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0129c0311t0013g0373 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0130c0283t0006g0220 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0131c0285t0001g0214 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0132c0286t0004g0054 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0133c0310t0003g0075 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0134c0305t0001g0088 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0135c0300t0001g0187 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0136c0321t0008g0144 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0137c0297t0001g0138 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0138c0282t0001g0201 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0139c0314t0019g0331 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0140c0298t0001g0099 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0141c0301t0001g0188 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0142c0295t0001g0078 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0143c0308t0001g0387 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0144c0307t0001g0058 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0145c0309t0001g0062 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0146c0302t0001g0105 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0147c0304t0001g0055 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0148c0303t0001g0199 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0149c0294t0001g0061 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0150c0287t0001g0270 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0151c0281t0008g0135 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0152c0293t0001g0102 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0153c0279t0002g0375 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0154c0291t0002g0193 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0155c0292t0002g0186 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0156c0290t0002g0185 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0157c0278t0002g0067 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0158c0289t0002g0281 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0159c0288t0023g0136 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0160c0317t0003g0141 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0161c0306t0005g0272 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0162c0284t0002g0096 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0163c0313t0002g0190 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0164c0276t0006g0263 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0165c0207t0002g0336 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0166c0212t0003g0109 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0167c0215t0005g0119 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0168c0216t0001g0324 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0169c0217t0001g0233 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0170c0254t0001g0260 1/0 1 0 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0171c0253t0001g0085 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0172c0255t0001g0269 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0173c0225t0005g0107 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0174c0323t0001g0146 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0175c0324t0001g0147 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0176c0227t0001g0029 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0177c0228t0005g0031 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0178c0211t0001g0271 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0179c0229t0001g0150 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0180c0243t0001g0382 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0181c0244t0001g0259 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0182c0232t0001g0094 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0183c0239t0017g0121 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0184c0238t0001g0258 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0185c0210t0001g0176 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0186c0344t0001g0275 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0187c0240t0001g0084 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0188c0241t0001g0246 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0189c0208t0001g0086 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0190c0251t0001g0182 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0191c0237t0001g0068 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0192c0235t0001g0326 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0193c0233t0001g0325 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0194c0230t0021g0057 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0195c0231t0001g0177 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0196c0246t0001g0181 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0197c0247t0001g0313 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0198c0248t0001g0069 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0199c0252t0001g0127 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0200c0250t0001g0317 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0201c0226t0001g0120 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0202c0218t0002g0091 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0203c0224t0005g0266 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0204c0222t0001g0231 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0205c0256t0001g0261 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0206c0221t0002g0265 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0207c0219t0006g0345 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0208c0220t0002g0312 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0209c0214t0010g0212 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0210c0263t0002g0110 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0211c0262t0002g0329 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0212c0271t0004g0247 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0213c0270t0001g0235 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0214c0272t0001g0248 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0215c0269t0002g0111 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0216c0264t0002g0184 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0217c0267t0002g0130 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0218c0266t0002g0330 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0219c0265t0002g0129 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0220c0274t0001g0250 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0221c0201t0001g0108 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0222c0205t0002g0114 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0223c0325t0016g0194 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0224c0204t0005g0073 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0225c0315t0003g0139 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0226c0326t0005g0050 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0227c0329t0001g0264 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0228c0328t0003g0148 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0229c0336t0011g0080 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0230c0337t0002g0361 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0231c0343t0001g0256 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0232c0057t0002g0154 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0233c0142t0002g0030 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0234c0065t0005g0291 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0235c0068t0002g0156 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0236c0067t0002g0155 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0237c0139t0001g0043 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0238c0077t0002g0293 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0239c0076t0002g0292 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0240c0078t0002g0038 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0241c0079t0002g0089 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0242c0116t0003g0298 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0243c0115t0013g0297 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0244c0111t0002g0173 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0245c0110t0002g0172 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0246c0113t0002g0083 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0247c0112t0001g0296 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0248c0109t0005g0257 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0249c0108t0001g0295 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0250c0114t0001g0319 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0251c0084t0005g0277 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0252c0107t0001g0171 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0253c0080t0007g0161 0/0 1 1 0 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0254c0081t0002g0162 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0255c0141t0002g0232 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0256c0082t0002g0164 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0257c0083t0002g0053 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0258c0106t0002g0170 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0259c0097t0002g0334 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0260c0103t0002g0282 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0261c0105t0002g0286 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0262c0104t0002g0285 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0263c0100t0002g0284 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0264c0099t0007g0168 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0265c0101t0025g0288 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0266c0098t0002g0090 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0267c0137t0003g0304 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0268c0122t0002g0299 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0269c0123t0002g0337 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0270c0093t0001g0343 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0271c0138t0001g0365 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0272c0091t0002g0167 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0273c0090t0007g0372 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0274c0135t0007g0364 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0275c0120t0002g0174 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0276c0133t0007g0322 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0277c0121t0002g0175 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0278c0074t0002g0195 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0279c0087t0002g0166 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0280c0134t0006g0044 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0281c0132t0002g0303 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0282c0140t0002g0305 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0283c0130t0002g0310 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0284c0131t0002g0311 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0285c0124t0007g0309 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0286c0061t0002g0315 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0287c0129t0002g0290 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0288c0086t0002g0381 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0289c0126t0002g0300 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0290c0128t0001g0301 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0291c0127t0002g0242 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0292c0125t0002g0279 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0293c0136t0002g0344 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0294c0119t0002g0321 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0295c0117t0002g0323 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0296c0118t0002g0320 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0297c0071t0001g0380 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0298c0070t0020g0158 0/0 1 0 0 0 0 1 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0299c0059t0001g0332 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0300c0073t0001g0160 0/0 1 0 0 0 1 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0301c0069t0001g0157 0/0 1 0 1 0 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0302c0066t0002g0383 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0303c0062t0006g0081 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0304c0064t0006g0276 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0305c0063t0006g0082 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
a0306c0058t0002g0234 0/0 1 0 0 1 0 0 EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0042 c0092 t0002 g0377 EUR GBR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00099 hp2 a0215 c0269 t0002 g0111 EUR GBR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00140 hp1 a0084 c0191 t0012 g0041 EUR GBR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00140 hp2 a0300 c0073 t0001 g0160 EUR GBR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00280 hp1 a0126 c0202 t0001 g0112 EUR FIN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00280 hp2 a0048 c0072 t0001 g0159 EUR FIN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00323 hp1 a0082 c0193 t0003 g0376 EUR FIN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00323 hp2 a0022 c0024 t0002 g0169 EUR FIN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00408 hp1 a0228 c0328 t0003 g0148 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00408 hp2 a0041 c0022 t0002 g0023 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00423 hp1 a0092 c0182 t0013 g0351 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00423 hp2 a0001 c0005 t0001 g0335 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00544 hp1 a0020 c0032 t0015 g0087 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00544 hp2 a0001 c0236 t0001 g0327 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00558 hp1 a0137 c0297 t0001 g0138 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00558 hp2 a0085 c0190 t0001 g0348 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00597 hp1 a0287 c0129 t0002 g0290 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00597 hp2 a0188 c0241 t0001 g0246 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00609 hp1 a0047 c0025 t0002 g0024 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00609 hp2 a0203 c0224 t0005 g0266 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00621 hp1 a0243 c0115 t0013 g0297 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00621 hp2 a0041 c0022 t0002 g0023 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00639 hp1 a0190 c0251 t0001 g0182 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00639 hp2 a0301 c0069 t0001 g0157 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00642 hp1 a0127 c0203 t0001 g0113 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00642 hp2 a0008 c0021 t0002 g0015 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00673 hp1 a0227 c0329 t0001 g0264 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00673 hp2 a0242 c0116 t0003 g0298 EAS CHS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00733 hp1 a0003 c0008 t0003 g0027 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00733 hp2 a0138 c0282 t0001 g0201 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00735 hp1 a0008 c0021 t0002 g0015 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00735 hp2 a0174 c0323 t0001 g0146 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00738 hp1 a0210 c0263 t0002 g0110 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00738 hp2 a0003 c0008 t0003 g0360 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00741 hp1 a0094 c0181 t0007 g0378 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG00741 hp2 a0003 c0030 t0003 g0010 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01069 hp1 a0022 c0094 t0006 g0152 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01069 hp2 a0012 c0009 t0001 g0002 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01070 hp1 a0014 c0044 t0002 g0018 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01070 hp2 a0003 c0030 t0003 g0010 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01071 hp1 a0012 c0009 t0001 g0002 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01071 hp2 a0014 c0044 t0002 g0018 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01074 hp1 a0043 c0085 t0026 g0165 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01074 hp2 a0034 c0261 t0006 g0183 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01081 hp1 a0245 c0110 t0002 g0172 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01081 hp2 a0048 c0060 t0001 g0333 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01099 hp1 a0042 c0088 t0002 g0371 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01099 hp2 a0130 c0283 t0006 g0220 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01106 hp1 a0278 c0074 t0002 g0195 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01106 hp2 a0129 c0311 t0013 g0373 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01109 hp1 a0221 c0201 t0001 g0108 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01109 hp2 a0098 c0055 t0009 g0211 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01167 hp1 a0232 c0057 t0002 g0154 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01167 hp2 a0045 c0027 t0006 g0362 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01168 hp1 a0283 c0130 t0002 g0310 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01168 hp2 a0044 c0020 t0002 g0020 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01169 hp1 a0045 c0027 t0002 g0363 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01169 hp2 a0044 c0020 t0002 g0020 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01175 hp1 a0274 c0135 t0007 g0364 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01175 hp2 a0116 c0171 t0009 g0200 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01192 hp1 a0103 c0170 t0005 g0240 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01192 hp2 a0003 c0008 t0003 g0027 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01243 hp1 a0175 c0324 t0001 g0147 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01243 hp2 a0153 c0279 t0002 g0375 AMR PUR EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01255 hp1 a0275 c0120 t0002 g0174 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01255 hp2 a0237 c0139 t0001 g0043 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01256 hp1 a0008 c0017 t0002 g0014 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01256 hp2 a0254 c0081 t0002 g0162 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01257 hp1 a0009 c0174 t0014 g0357 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01257 hp2 a0006 c0003 t0001 g0011 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01258 hp1 a0006 c0003 t0001 g0011 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01258 hp2 a0008 c0017 t0002 g0014 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01261 hp1 a0277 c0121 t0002 g0175 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01261 hp2 a0294 c0119 t0002 g0321 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01346 hp1 a0095 c0196 t0002 g0356 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01346 hp2 a0001 c0242 t0001 g0124 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01358 hp1 a0258 c0106 t0002 g0170 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01358 hp2 a0005 c0004 t0001 g0267 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01361 hp1 a0191 c0237 t0001 g0068 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01361 hp2 a0273 c0090 t0007 g0372 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01433 hp1 a0250 c0114 t0001 g0319 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01433 hp2 a0276 c0133 t0007 g0322 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01496 hp1 a0166 c0212 t0003 g0109 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01496 hp2 a0172 c0255 t0001 g0269 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01515 hp1 a0280 c0134 t0006 g0044 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01515 hp2 a0003 c0031 t0024 g0368 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01516 hp1 a0206 c0221 t0002 g0265 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01516 hp2 a0001 c0035 t0004 g0178 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01517 hp1 a0001 c0035 t0001 g0179 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01517 hp2 a0003 c0031 t0003 g0369 EUR IBS EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01884 hp1 a0054 c0340 t0027 g0045 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01884 hp2 a0131 c0285 t0001 g0214 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01891 hp1 a0083 c0188 t0001 g0366 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01891 hp2 a0001 c0033 t0001 g0017 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01928 hp1 a0087 c0192 t0012 g0359 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01928 hp2 a0001 c0001 t0001 g0191 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01934 hp1 a0052 c0056 t0018 g0283 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01934 hp2 a0012 c0009 t0001 g0002 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01952 hp1 a0034 c0260 t0002 g0128 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01952 hp2 a0009 c0187 t0014 g0229 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01975 hp1 a0102 c0169 t0001 g0239 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01975 hp2 a0295 c0117 t0002 g0323 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01978 hp1 a0001 c0001 t0001 g0386 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01978 hp2 a0252 c0107 t0001 g0171 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01981 hp1 a0236 c0067 t0002 g0155 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01981 hp2 a0169 c0217 t0001 g0233 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01993 hp1 a0296 c0118 t0002 g0320 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01993 hp2 a0005 c0004 t0001 g0004 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02004 hp1 a0009 c0178 t0014 g0350 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02004 hp2 a0001 c0001 t0001 g0001 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02027 hp1 a0251 c0084 t0005 g0277 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02027 hp2 a0035 c0043 t0011 g0079 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02040 hp1 a0001 c0001 t0001 g0001 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02040 hp2 a0168 c0216 t0001 g0324 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02055 hp1 a0253 c0080 t0007 g0161 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02055 hp2 a0101 c0168 t0005 g0238 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02056 hp1 a0146 c0302 t0001 g0105 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02056 hp2 a0001 c0005 t0001 g0180 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02071 hp1 a0268 c0122 t0002 g0299 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02071 hp2 a0016 c0312 t0008 g0189 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02074 hp1 a0291 c0127 t0002 g0242 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02074 hp2 a0184 c0238 t0001 g0258 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02080 hp1 a0167 c0215 t0005 g0119 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02080 hp2 a0136 c0321 t0008 g0144 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02129 hp1 a0165 c0207 t0002 g0336 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02129 hp2 a0155 c0292 t0002 g0186 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02132 hp1 a0001 c0001 t0001 g0019 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02132 hp2 a0001 c0275 t0001 g0262 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02135 hp1 a0176 c0227 t0001 g0029 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02135 hp2 a0193 c0233 t0001 g0325 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02145 hp1 a0118 c0052 t0001 g0206 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02145 hp2 a0066 c0148 t0007 g0218 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02155 hp1 a0211 c0262 t0002 g0329 EAS CDX EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02155 hp2 a0028 c0039 t0001 g0198 EAS CDX EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02165 hp1 a0302 c0066 t0002 g0383 EAS CDX EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02165 hp2 a0030 c0258 t0002 g0244 EAS CDX EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02257 hp1 a0019 c0038 t0001 g0209 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02257 hp2 a0194 c0230 t0021 g0057 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02258 hp1 a0141 c0301 t0001 g0188 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02258 hp2 a0097 c0330 t0004 g0273 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02280 hp1 a0147 c0304 t0001 g0055 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02280 hp2 a0061 c0157 t0004 g0237 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02293 hp1 a0256 c0082 t0002 g0164 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02293 hp2 a0001 c0209 t0001 g0116 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02300 hp1 a0224 c0204 t0005 g0073 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02300 hp2 a0005 c0004 t0001 g0004 AMR PEL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02523 hp1 a0212 c0271 t0004 g0247 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02523 hp2 a0207 c0219 t0006 g0345 EAS KHV EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02572 hp1 a0124 c0327 t0005 g0222 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02572 hp2 a0140 c0298 t0001 g0099 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02602 hp1 a0039 c0023 t0002 g0278 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02602 hp2 a0038 c0019 t0002 g0245 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02622 hp1 a0125 c0200 t0001 g0289 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02622 hp2 a0161 c0306 t0005 g0272 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02630 hp1 a0121 c0333 t0004 g0253 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02630 hp2 a0062 c0156 t0004 g0241 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02647 hp1 a0010 c0015 t0001 g0203 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02647 hp2 a0220 c0274 t0001 g0250 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02683 hp1 a0230 c0337 t0002 g0361 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02683 hp2 a0298 c0070 t0020 g0158 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02698 hp1 a0022 c0024 t0002 g0153 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02698 hp2 a0090 c0184 t0007 g0353 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02717 hp1 a0068 c0146 t0003 g0213 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02717 hp2 a0122 c0334 t0003 g0254 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02723 hp1 a0064 c0150 t0001 g0051 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02723 hp2 a0110 c0046 t0010 g0071 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02735 hp1 a0091 c0180 t0002 g0374 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02735 hp2 a0014 c0280 t0006 g0379 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02738 hp1 a0279 c0087 t0002 g0166 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02738 hp2 a0046 c0026 t0002 g0302 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02809 hp1 a0063 c0159 t0004 g0059 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02809 hp2 a0029 c0040 t0001 g0060 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02818 hp1 a0152 c0293 t0001 g0102 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02818 hp2 a0058 c0155 t0001 g0047 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02886 hp1 a0011 c0007 t0001 g0005 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02886 hp2 a0010 c0050 t0001 g0204 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02895 hp1 a0027 c0042 t0004 g0034 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02895 hp2 a0029 c0040 t0004 g0056 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02896 hp1 a0128 c0277 t0022 g0032 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02896 hp2 a0027 c0042 t0001 g0035 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02922 hp1 a0119 c0053 t0004 g0207 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02922 hp2 a0019 c0038 t0004 g0125 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02965 hp1 a0011 c0007 t0001 g0005 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02965 hp2 a0072 c0160 t0009 g0036 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02970 hp1 a0011 c0007 t0001 g0005 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02970 hp2 a0160 c0317 t0003 g0141 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02976 hp1 a0002 c0002 t0001 g0076 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02976 hp2 a0019 c0245 t0001 g0210 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03017 hp1 a0026 c0186 t0002 g0355 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03017 hp2 a0077 c0175 t0012 g0358 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03041 hp1 a0132 c0286 t0004 g0054 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03041 hp2 a0025 c0161 t0001 g0196 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03098 hp1 a0001 c0033 t0001 g0017 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03098 hp2 a0060 c0154 t0001 g0046 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03130 hp1 a0115 c0172 t0001 g0221 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03130 hp2 a0113 c0048 t0010 g0216 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03139 hp1 a0209 c0214 t0010 g0212 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03139 hp2 a0059 c0152 t0001 g0274 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03195 hp1 a0015 c0041 t0003 g0140 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03195 hp2 a0106 c0164 t0009 g0224 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03209 hp1 a0143 c0308 t0001 g0387 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03209 hp2 a0145 c0309 t0001 g0062 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03225 hp1 a0069 c0151 t0004 g0052 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03225 hp2 a0057 c0153 t0001 g0049 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03239 hp1 a0038 c0019 t0012 g0163 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03239 hp2 a0259 c0097 t0002 g0334 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03453 hp1 a0024 c0029 t0001 g0007 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03453 hp2 a0010 c0015 t0001 g0202 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03486 hp1 a0056 c0158 t0001 g0048 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03486 hp2 a0108 c0165 t0009 g0225 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03490 hp1 a0241 c0079 t0002 g0089 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03490 hp2 a0049 c0028 t0002 g0016 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03491 hp1 a0040 c0018 t0002 g0026 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03491 hp2 a0269 c0123 t0002 g0337 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03492 hp1 a0040 c0018 t0002 g0026 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03492 hp2 a0049 c0028 t0002 g0016 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03516 hp1 a0112 c0045 t0010 g0070 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03516 hp2 a0015 c0041 t0013 g0097 AFR ESN EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03540 hp1 a0111 c0047 t0010 g0072 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03540 hp2 a0225 c0315 t0003 g0139 AFR GWD EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03579 hp1 a0024 c0029 t0001 g0007 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03579 hp2 a0107 c0166 t0009 g0226 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03654 hp1 a0093 c0176 t0007 g0106 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03654 hp2 a0198 c0248 t0001 g0069 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03669 hp1 a0046 c0026 t0002 g0347 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03669 hp2 a0134 c0305 t0001 g0088 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03688 hp1 a0023 c0102 t0002 g0342 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03688 hp2 a0023 c0096 t0002 g0318 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03704 hp1 a0135 c0300 t0001 g0187 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03704 hp2 a0178 c0211 t0001 g0271 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03710 hp1 a0272 c0091 t0002 g0167 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03710 hp2 a0233 c0142 t0002 g0030 SAS PJL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03831 hp1 a0208 c0220 t0002 g0312 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03831 hp2 a0051 c0345 t0002 g0280 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03834 hp1 a0030 c0257 t0002 g0243 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03834 hp2 a0023 c0095 t0002 g0294 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03927 hp1 a0214 c0272 t0001 g0248 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03927 hp2 a0244 c0111 t0002 g0173 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03942 hp1 a0267 c0137 t0003 g0304 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03942 hp2 a0196 c0246 t0001 g0181 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04115 hp1 a0282 c0140 t0002 g0305 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04115 hp2 a0026 c0185 t0002 g0354 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04184 hp1 a0039 c0023 t0007 g0346 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04184 hp2 a0076 c0198 t0003 g0228 SAS BEB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04199 hp1 a0086 c0189 t0001 g0367 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04199 hp2 a0255 c0141 t0002 g0232 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04204 hp1 a0089 c0183 t0002 g0352 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04204 hp2 a0002 c0299 t0005 g0092 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04228 hp1 a0257 c0083 t0002 g0053 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG04228 hp2 a0157 c0278 t0002 g0067 SAS STU EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18522 hp1 a0002 c0296 t0001 g0215 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18522 hp2 a0133 c0310 t0003 g0075 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18612 hp1 a0151 c0281 t0008 g0135 EAS CHB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18612 hp2 a0033 c0213 t0002 g0118 EAS CHB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18747 hp1 a0031 c0036 t0001 g0013 EAS CHB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18747 hp2 a0074 c0335 t0002 g0307 EAS CHB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18906 hp1 a0123 c0331 t0004 g0251 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18906 hp2 a0120 c0332 t0003 g0252 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18942 hp1 a0017 c0012 t0001 g0104 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18942 hp2 a0173 c0225 t0005 g0107 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18943 hp1 a0016 c0322 t0008 g0145 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18943 hp2 a0154 c0291 t0002 g0193 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18944 hp1 a0156 c0290 t0002 g0185 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18944 hp2 a0200 c0250 t0001 g0317 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18945 hp1 a0001 c0005 t0001 g0123 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18945 hp2 a0007 c0273 t0002 g0131 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18947 hp1 a0013 c0014 t0011 g0021 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18947 hp2 a0006 c0003 t0001 g0385 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18949 hp1 a0249 c0108 t0001 g0295 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18949 hp2 a0231 c0343 t0001 g0256 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18950 hp1 a0020 c0223 t0015 g0388 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18950 hp2 a0050 c0346 t0001 g0306 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18951 hp1 a0247 c0112 t0001 g0296 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18951 hp2 a0303 c0062 t0006 g0081 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18952 hp1 a0204 c0222 t0001 g0231 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18952 hp2 a0306 c0058 t0002 g0234 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18953 hp1 a0053 c0144 t0002 g0349 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18953 hp2 a0218 c0266 t0002 g0330 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18954 hp1 a0001 c0259 t0001 g0314 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18954 hp2 a0007 c0013 t0006 g0133 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18956 hp1 a0004 c0234 t0005 g0268 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18956 hp2 a0020 c0032 t0008 g0098 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18957 hp1 a0239 c0076 t0002 g0292 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18957 hp2 a0171 c0253 t0001 g0085 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18959 hp1 a0142 c0295 t0001 g0078 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18959 hp2 a0001 c0001 t0001 g0308 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18960 hp1 a0284 c0131 t0002 g0311 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18960 hp2 a0001 c0005 t0004 g0192 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18962 hp1 a0001 c0001 t0001 g0008 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18962 hp2 a0001 c0001 t0005 g0151 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18963 hp1 a0222 c0205 t0002 g0114 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18963 hp2 a0289 c0126 t0002 g0300 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18968 hp1 a0197 c0247 t0001 g0313 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18968 hp2 a0018 c0034 t0001 g0012 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18969 hp1 a0031 c0036 t0001 g0013 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18969 hp2 a0186 c0344 t0001 g0275 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18970 hp1 a0032 c0037 t0001 g0328 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18970 hp2 a0292 c0125 t0002 g0279 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18971 hp1 a0219 c0265 t0002 g0129 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18971 hp2 a0286 c0061 t0002 g0315 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18972 hp1 a0078 c0177 t0003 g0339 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18972 hp2 a0164 c0276 t0006 g0263 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18973 hp1 a0035 c0043 t0011 g0149 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18973 hp2 a0002 c0320 t0008 g0143 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18974 hp1 a0079 c0342 t0003 g0338 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18974 hp2 a0177 c0228 t0005 g0031 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18975 hp1 a0004 c0011 t0001 g0006 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18975 hp2 a0285 c0124 t0007 g0309 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18977 hp1 a0032 c0037 t0004 g0122 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18977 hp2 a0148 c0303 t0001 g0199 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18978 hp1 a0265 c0101 t0025 g0288 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18978 hp2 a0001 c0010 t0001 g0117 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18979 hp1 a0216 c0264 t0002 g0184 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18979 hp2 a0248 c0109 t0005 g0257 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18982 hp1 a0305 c0063 t0006 g0082 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18982 hp2 a0189 c0208 t0001 g0086 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18983 hp1 a0018 c0034 t0001 g0012 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18983 hp2 a0260 c0103 t0002 g0282 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18986 hp1 a0202 c0218 t0002 g0091 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18986 hp2 a0036 c0016 t0001 g0022 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18990 hp1 a0105 c0338 t0007 g0287 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18990 hp2 a0182 c0232 t0001 g0094 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18991 hp1 a0001 c0001 t0001 g0001 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18991 hp2 a0262 c0104 t0002 g0285 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18993 hp1 a0016 c0319 t0008 g0249 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18993 hp2 a0002 c0002 t0001 g0003 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18994 hp1 a0001 c0001 t0001 g0001 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18994 hp2 a0180 c0243 t0001 g0382 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18995 hp1 a0281 c0132 t0002 g0303 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18995 hp2 a0013 c0014 t0011 g0021 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18997 hp1 a0229 c0336 t0011 g0080 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18997 hp2 a0234 c0065 t0005 g0291 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18998 hp1 a0001 c0001 t0001 g0019 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18998 hp2 a0021 c0006 t0007 g0037 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18999 hp1 a0021 c0006 t0002 g0028 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA18999 hp2 a0001 c0001 t0001 g0093 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19000 hp1 a0013 c0014 t0008 g0137 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19000 hp2 a0018 c0206 t0001 g0115 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19002 hp1 a0201 c0226 t0001 g0120 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19002 hp2 a0264 c0099 t0007 g0168 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19004 hp1 a0213 c0270 t0001 g0235 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19004 hp2 a0179 c0229 t0001 g0150 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19005 hp1 a0001 c0001 t0001 g0095 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19005 hp2 a0001 c0010 t0001 g0009 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19007 hp1 a0004 c0011 t0001 g0006 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19007 hp2 a0007 c0013 t0002 g0134 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19009 hp1 a0007 c0013 t0012 g0132 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19009 hp2 a0088 c0179 t0001 g0341 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19010 hp1 a0199 c0252 t0001 g0127 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19010 hp2 a0002 c0002 t0001 g0003 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19011 hp1 a0001 c0001 t0001 g0025 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19011 hp2 a0263 c0100 t0002 g0284 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19012 hp1 a0290 c0128 t0001 g0301 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19012 hp2 a0006 c0003 t0004 g0230 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19030 hp1 a0223 c0325 t0016 g0194 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19030 hp2 a0055 c0341 t0016 g0255 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19043 hp1 a0104 c0167 t0001 g0208 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19043 hp2 a0025 c0162 t0001 g0033 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19054 hp1 a0217 c0267 t0002 g0130 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19054 hp2 a0238 c0077 t0002 g0293 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19055 hp1 a0033 c0268 t0006 g0077 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19055 hp2 a0159 c0288 t0023 g0136 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19057 hp1 a0017 c0012 t0001 g0066 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19057 hp2 a0181 c0244 t0001 g0259 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19058 hp1 a0163 c0313 t0002 g0190 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19058 hp2 a0183 c0239 t0017 g0121 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19064 hp1 a0246 c0113 t0002 g0083 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19064 hp2 a0004 c0011 t0001 g0006 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19065 hp1 a0288 c0086 t0002 g0381 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19065 hp2 a0001 c0010 t0001 g0009 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19066 hp1 a0001 c0249 t0001 g0126 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19066 hp2 a0139 c0314 t0019 g0331 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19074 hp1 a0195 c0231 t0001 g0177 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19074 hp2 a0047 c0025 t0002 g0024 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19076 hp1 a0226 c0326 t0005 g0050 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19076 hp2 a0266 c0098 t0002 g0090 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19079 hp1 a0270 c0093 t0001 g0343 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19079 hp2 a0001 c0001 t0001 g0025 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19080 hp1 a0037 c0075 t0002 g0316 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19080 hp2 a0187 c0240 t0001 g0084 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19081 hp1 a0002 c0002 t0001 g0003 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19081 hp2 a0240 c0078 t0002 g0038 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19082 hp1 a0036 c0016 t0001 g0022 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19082 hp2 a0205 c0256 t0001 g0261 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19084 hp1 a0037 c0143 t0002 g0384 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19084 hp2 a0075 c0199 t0003 g0340 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19085 hp1 a0028 c0039 t0004 g0197 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19085 hp2 a0158 c0289 t0002 g0281 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19088 hp1 a0001 c0001 t0001 g0008 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19088 hp2 a0017 c0012 t0001 g0065 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19089 hp1 a0261 c0105 t0002 g0286 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19089 hp2 a0304 c0064 t0006 g0276 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19090 hp1 a0192 c0235 t0001 g0326 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19090 hp2 a0185 c0210 t0001 g0176 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19091 hp1 a0001 c0001 t0001 g0001 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19091 hp2 a0021 c0006 t0002 g0028 EAS JPT EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19240 hp1 a0065 c0149 t0002 g0219 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA19240 hp2 a0144 c0307 t0001 g0058 AFR YRI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20129 hp1 a0071 c0347 t0001 g0063 AFR ASW EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20129 hp2 a0114 c0173 t0001 g0064 AFR ASW EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20752 hp1 a0271 c0138 t0001 g0365 EUR TSI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20752 hp2 a0096 c0197 t0002 g0101 EUR TSI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20805 hp1 a0297 c0071 t0001 g0380 EUR TSI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20805 hp2 a0043 c0089 t0002 g0042 EUR TSI EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20905 hp1 a0162 c0284 t0002 g0096 SAS GIH EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20905 hp2 a0293 c0136 t0002 g0344 SAS GIH EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01123 hp1 a0235 c0068 t0002 g0156 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG01123 hp2 a0299 c0059 t0001 g0332 AMR CLM EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02109 hp1 a0073 c0339 t0009 g0039 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02109 hp2 a0002 c0002 t0001 g0074 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02486 hp1 a0002 c0318 t0001 g0142 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02486 hp2 a0149 c0294 t0001 g0061 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02559 hp1 a0015 c0316 t0003 g0227 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG02559 hp2 a0109 c0163 t0009 g0223 AFR ACB EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03471 hp1 a0067 c0147 t0002 g0217 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG03471 hp2 a0070 c0145 t0001 g0236 AFR MSL EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG06807 hp1 a0150 c0287 t0001 g0270 AFR USA EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
HG06807 hp2 a0099 c0054 t0001 g0103 AFR USA EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20300 hp1 a0005 c0004 t0001 g0004 AFR USA EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA20300 hp2 a0117 c0051 t0004 g0205 AFR USA EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA21309 hp1 a0100 c0049 t0010 g0040 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
NA21309 hp2 a0080 c0195 t0003 g0370 AFR LWK EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
homoSapiens_chm13v2 hp1 a0081 c0194 t0003 g0100 REF REF EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467
homoSapiens_grch38 hp1 a0170 c0254 t0001 g0260 REF REF EPPK1_chr8_143852324_143883467 EPPK1 chr8 143852324 143883467

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
chr8:143858058 G
G
 C
C
 4 a0014
a0130
a0153
others(1): Show 
a0014
a0130
a0153
a0257
 6 HG01070.hp1
HG01071.hp2
HG01099.hp2
others(3): Show 
HG01070.hp1
HG01071.hp2
HG01099.hp2
HG01243.hp2
HG02735.hp2
HG04228.hp1
 missense_variant MODERATE c.15196C>G
c.15196C>G
 p.Leu5066Val
p.Leu5066Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15271/16005 15196/15267 5066/5088 chr8 143858058
chr8:143858072 T
T
 C
C
 1 a0188
a0188
 1 HG00597.hp2
HG00597.hp2
 missense_variant MODERATE c.15182A>G
c.15182A>G
 p.Glu5061Gly
p.Glu5061Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15257/16005 15182/15267 5061/5088 chr8 143858072
chr8:143858128 GCGGTTCA
others(3194): Show 
GCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC
CTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCG
AGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTAT
CTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAG
GAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCA
TCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGC
ACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGG
GTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCG
TGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACA
CGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGG
CACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGG
CCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATG
GCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGT
GACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCA
CGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGG
TCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGT
GCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCT
CCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAG
CTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTG
CAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGA
TCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGG
AAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAG
GACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCA
GGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCC
CACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGT
GGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGG
CGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCC
GAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCA
GGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGA
TGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAG
CCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGA
CGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCT
TGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGG
CTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAG
CGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGT
ATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAG
AGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGG
CGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGT
GCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCC
GGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTG
CGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGA
CA
 G
G
 7 a0034
a0067
a0095
others(4): Show 
a0034
a0067
a0095
a0287
a0294
a0295
a0296
 8 HG00597.hp1
HG01074.hp2
HG01261.hp2
others(5): Show 
HG00597.hp1
HG01074.hp2
HG01261.hp2
HG01346.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG03471.hp1
 disruptive_inframe_deletion MODERATE c.11925_15125del
c.11925_15125del
 p.Val3976_Arg5042del
p.Val3976_Arg5042del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15200/16005 11925/15267 3975/5088 chr8 143858128
chr8:143858159 C
C
 A
A
 1 a0132
a0132
 1 HG03041.hp1
HG03041.hp1
 missense_variant MODERATE c.15095G>T
c.15095G>T
 p.Arg5032Leu
p.Arg5032Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15170/16005 15095/15267 5032/5088 chr8 143858159
chr8:143858159 C
C
 T
T
 1 a0032
a0032
 2 NA18970.hp1
NA18977.hp1
NA18970.hp1
NA18977.hp1
 missense_variant MODERATE c.15095G>A
c.15095G>A
 p.Arg5032Gln
p.Arg5032Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15170/16005 15095/15267 5032/5088 chr8 143858159
chr8:143858159 CGGTAGGC
others(6389): Show 
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGTGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC
CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG
GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG
GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG
CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG
CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC
CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC
CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG
CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACG
GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC
GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT
GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC
AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG
CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA
CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG
TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG
CCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA
CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG
ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT
GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT
CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC
AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC
CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG
CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC
ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA
GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG
CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC
TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG
GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG
GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC
GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC
GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC
TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG
GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT
CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG
ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC
GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT
GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG
GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC
GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC
CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG
ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC
GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG
GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA
GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC
TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG
GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC
GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC
CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG
CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG
GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG
GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG
GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAG
CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA
CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG
GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC
CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT
AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC
GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT
GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT
 C
C
 1 a0196
a0196
 1 HG03942.hp2
HG03942.hp2
 disruptive_inframe_deletion MODERATE c.8699_15094del
c.8699_15094del
 p.Gln2900_Tyr5031del
p.Gln2900_Tyr5031del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15169/16005 8699/15267 2900/5088 chr8 143858159
chr8:143858293 G
G
 C
C
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 missense_variant MODERATE c.14961C>G
c.14961C>G
 p.Ile4987Met
p.Ile4987Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15036/16005 14961/15267 4987/5088 chr8 143858293
chr8:143858370 C
C
 T
T
 1 a0100
a0100
 1 NA21309.hp1
NA21309.hp1
 missense_variant MODERATE c.14884G>A
c.14884G>A
 p.Gly4962Ser
p.Gly4962Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14959/16005 14884/15267 4962/5088 chr8 143858370
chr8:143858424 C
C
 T
T
 1 a0171
a0171
 1 NA18957.hp2
NA18957.hp2
 missense_variant MODERATE c.14830G>A
c.14830G>A
 p.Val4944Met
p.Val4944Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14905/16005 14830/15267 4944/5088 chr8 143858424
chr8:143858534 CGGCCGGG
others(1592): Show 
CGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGTGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTC
TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC
TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT
GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC
CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAG
CAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCC
ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG
GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC
CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA
GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC
AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC
CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGC
GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG
GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG
CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG
GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTC
ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG
GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA
GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG
AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC
GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG
CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG
ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG
CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGT
 C
C
 4 a0065
a0066
a0078
others(1): Show 
a0065
a0066
a0078
a0190
 4 HG00639.hp1
HG02145.hp2
NA18972.hp1
others(1): Show 
HG00639.hp1
HG02145.hp2
NA18972.hp1
NA19240.hp1
 disruptive_inframe_deletion MODERATE c.13121_14719del
c.13121_14719del
 p.His4374_Gly4906del
p.His4374_Gly4906del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14794/16005 13121/15267 4374/5088 chr8 143858534
chr8:143858571 C
C
 T
T
 1 a0124
a0124
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.14683G>A
c.14683G>A
 p.Ala4895Thr
p.Ala4895Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14758/16005 14683/15267 4895/5088 chr8 143858571
chr8:143858583 T
T
 A
A
 1 a0285
a0285
 1 NA18975.hp2
NA18975.hp2
 missense_variant MODERATE c.14671A>T
c.14671A>T
 p.Thr4891Ser
p.Thr4891Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14746/16005 14671/15267 4891/5088 chr8 143858583
chr8:143858612 A
A
 C
C
 1 a0009
a0009
 3 HG01257.hp1
HG01952.hp2
HG02004.hp1
HG01257.hp1
HG01952.hp2
HG02004.hp1
 missense_variant MODERATE c.14642T>G
c.14642T>G
 p.Met4881Arg
p.Met4881Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14717/16005 14642/15267 4881/5088 chr8 143858612
chr8:143858715 G
G
 A
A
 1 a0031
a0031
 2 NA18747.hp1
NA18969.hp1
NA18747.hp1
NA18969.hp1
 missense_variant MODERATE c.14539C>T
c.14539C>T
 p.Arg4847Cys
p.Arg4847Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14614/16005 14539/15267 4847/5088 chr8 143858715
chr8:143858763 C
C
 T
T
 3 a0029
a0132
a0147
a0029
a0132
a0147
 4 HG02280.hp1
HG02809.hp2
HG02895.hp2
others(1): Show 
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
 missense_variant MODERATE c.14491G>A
c.14491G>A
 p.Glu4831Lys
p.Glu4831Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14566/16005 14491/15267 4831/5088 chr8 143858763
chr8:143858793 C
C
 T
T
 5 a0110
a0111
a0112
others(2): Show 
a0110
a0111
a0112
a0113
a0209
 5 HG02723.hp2
HG03130.hp2
HG03139.hp1
others(2): Show 
HG02723.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
 missense_variant MODERATE c.14461G>A
c.14461G>A
 p.Asp4821Asn
p.Asp4821Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14536/16005 14461/15267 4821/5088 chr8 143858793
chr8:143858843 T
T
 C
C
 193 a0003
a0007
a0008
others(190): Show 
a0003
a0007
a0008
a0009
a0010
a0011
a0014
a0015
a0018
a0021
a0022
a0023
a0024
a0025
a0026
a0029
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0079
a0080
a0081
a0082
a0086
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0097
a0098
a0100
a0101
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0119
a0120
a0121
a0122
a0123
a0124
a0125
a0128
a0129
a0130
a0131
a0132
a0133
a0140
a0141
a0143
a0144
a0145
a0147
a0149
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0160
a0161
a0162
a0163
a0164
a0165
a0166
a0187
a0194
a0202
a0204
a0206
a0207
a0208
a0209
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0223
a0224
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0245
a0246
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0268
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 241 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(238): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.14411A>G
c.14411A>G
 p.His4804Arg
p.His4804Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14486/16005 14411/15267 4804/5088 chr8 143858843
chr8:143858958 G
G
 GGGCGGCG
others(2): Show 
GGGCGGCGGC
 135 a0003
a0007
a0008
others(132): Show 
a0003
a0007
a0008
a0009
a0014
a0021
a0022
a0023
a0026
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0055
a0072
a0073
a0074
a0075
a0076
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0098
a0105
a0106
a0107
a0108
a0109
a0116
a0122
a0129
a0130
a0133
a0153
a0154
a0155
a0156
a0157
a0159
a0162
a0163
a0164
a0165
a0166
a0187
a0202
a0204
a0206
a0207
a0208
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0223
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0245
a0246
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0268
a0269
a0272
a0273
a0274
a0275
a0276
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 172 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02071.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02965.hp2
HG03017.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 conservative_inframe_insertion MODERATE c.14287_14295dupGCCG
others(5): Show 
c.14287_14295dupGCCGCCGCC
 p.Ala4763_Ala4765dup
p.Ala4763_Ala4765dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14370/16005 14295/15267 4765/5088 chr8 143858958
chr8:143858958 G
G
 GGGCGGCG
others(5): Show 
GGGCGGCGGCGGC
 1 a0277
a0277
 1 HG01261.hp1
HG01261.hp1
 conservative_inframe_insertion MODERATE c.14284_14295dupGCCG
others(8): Show 
c.14284_14295dupGCCGCCGCCGCC
 p.Ala4762_Ala4765dup
p.Ala4762_Ala4765dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14370/16005 14295/15267 4765/5088 chr8 143858958
chr8:143858961 CGGCGGCG
others(3203): Show 
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC
TGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA
AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC
CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC
CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC
GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGT
 C
C
 1 a0251
a0251
 1 HG02027.hp1
HG02027.hp1
 conservative_inframe_deletion MODERATE c.11083_14292del
c.11083_14292del
 p.Thr3695_Ala4764del
p.Thr3695_Ala4764del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14367/16005 11083/15267 3695/5088 chr8 143858961
chr8:143858982 T
T
 A
A
 1 a0157
a0157
 1 HG04228.hp2
HG04228.hp2
 missense_variant MODERATE c.14272A>T
c.14272A>T
 p.Thr4758Ser
p.Thr4758Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14347/16005 14272/15267 4758/5088 chr8 143858982
chr8:143859096 C
C
 T
T
 1 a0121
a0121
 1 HG02630.hp1
HG02630.hp1
 missense_variant MODERATE c.14158G>A
c.14158G>A
 p.Gly4720Arg
p.Gly4720Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14233/16005 14158/15267 4720/5088 chr8 143859096
chr8:143859137 C
C
 T
T
 1 a0089
a0089
 1 HG04204.hp1
HG04204.hp1
 missense_variant MODERATE c.14117G>A
c.14117G>A
 p.Arg4706His
p.Arg4706His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14192/16005 14117/15267 4706/5088 chr8 143859137
chr8:143859204 C
C
 T
T
 5 a0059
a0100
a0108
others(2): Show 
a0059
a0100
a0108
a0248
a0249
 5 HG03139.hp2
HG03486.hp2
NA18949.hp1
others(2): Show 
HG03139.hp2
HG03486.hp2
NA18949.hp1
NA18979.hp2
NA21309.hp1
 missense_variant MODERATE c.14050G>A
c.14050G>A
 p.Gly4684Arg
p.Gly4684Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14125/16005 14050/15267 4684/5088 chr8 143859204
chr8:143859204 CGCTCACG
others(1601): Show 
CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT
GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC
ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC
CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC
CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG
CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG
CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT
GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG
TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC
GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA
TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC
CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC
GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT
TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC
GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG
CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA
TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG
GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC
CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT
CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG
GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC
CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA
GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC
AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA
CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC
GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC
TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG
CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC
CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC
GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG
GGCGGCCCT
 C
C
 3 a0074
a0147
a0160
a0074
a0147
a0160
 3 HG02280.hp1
HG02970.hp2
NA18747.hp2
HG02280.hp1
HG02970.hp2
NA18747.hp2
 conservative_inframe_deletion MODERATE c.12442_14049del
c.12442_14049del
 p.Arg4148_Ser4683del
p.Arg4148_Ser4683del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14124/16005 12442/15267 4148/5088 chr8 143859204
chr8:143859204 CGCTCACG
others(6404): Show 
CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCTCGGCCCGGGCCT
GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC
ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC
CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC
CCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAG
CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG
CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT
GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG
TCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC
GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA
TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC
CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC
GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT
TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC
GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG
CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA
TGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCG
GGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC
CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT
CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG
GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC
CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA
GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC
AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA
CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC
GGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC
TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG
CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC
CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC
GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG
GGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG
CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG
GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC
CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT
CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG
TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG
GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC
AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC
TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG
CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGG
TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG
CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC
GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT
CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC
CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG
CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA
CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC
TGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCA
CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG
CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG
ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG
GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG
CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC
TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC
CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC
TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG
AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG
GCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCC
CCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCT
GGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGC
CCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCA
GCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCC
CGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCAC
CGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCA
GGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGG
GCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTC
CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC
GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC
TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC
ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA
GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC
AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT
GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT
AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG
TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG
CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT
GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC
AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC
CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG
CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC
CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT
GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT
TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC
AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA
GGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT
CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG
CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC
GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT
GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC
TGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC
CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG
GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG
GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG
CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG
CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC
CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC
CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG
CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACG
GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC
GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT
GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC
AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG
CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA
CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG
TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG
CTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA
CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG
ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT
GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT
CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC
AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC
CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG
CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC
ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA
GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCT
 C
C
 2 a0245
a0268
a0245
a0268
 2 HG01081.hp1
HG02071.hp1
HG01081.hp1
HG02071.hp1
 conservative_inframe_deletion MODERATE c.7639_14049del
c.7639_14049del
 p.Arg2547_Ser4683del
p.Arg2547_Ser4683del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14124/16005 7639/15267 2547/5088 chr8 143859204
chr8:143859221 G
G
 A
A
 15 a0003
a0053
a0075
others(12): Show 
a0003
a0053
a0075
a0076
a0079
a0080
a0082
a0092
a0122
a0129
a0133
a0166
a0228
a0242
a0267
 21 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(18): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG02717.hp2
HG03942.hp1
HG04184.hp2
NA18522.hp2
NA18953.hp1
NA18974.hp1
NA19084.hp2
NA21309.hp2
 missense_variant MODERATE c.14033C>T
c.14033C>T
 p.Ala4678Val
p.Ala4678Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14108/16005 14033/15267 4678/5088 chr8 143859221
chr8:143859307 G
G
 T
T
 1 a0175
a0175
 1 HG01243.hp1
HG01243.hp1
 missense_variant MODERATE c.13947C>A
c.13947C>A
 p.Asp4649Glu
p.Asp4649Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14022/16005 13947/15267 4649/5088 chr8 143859307
chr8:143859323 CCGGCCT
CCGGCCT
 C
C
 162 a0003
a0007
a0008
others(159): Show 
a0003
a0007
a0008
a0009
a0010
a0011
a0014
a0015
a0017
a0018
a0021
a0022
a0023
a0025
a0026
a0029
a0030
a0033
a0037
a0038
a0039
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0055
a0061
a0062
a0068
a0069
a0070
a0072
a0073
a0075
a0076
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0097
a0098
a0100
a0104
a0105
a0106
a0107
a0108
a0109
a0114
a0115
a0116
a0120
a0121
a0122
a0123
a0124
a0128
a0129
a0130
a0132
a0133
a0141
a0153
a0154
a0157
a0158
a0159
a0162
a0163
a0164
a0165
a0166
a0175
a0187
a0194
a0202
a0206
a0207
a0208
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0223
a0224
a0225
a0228
a0230
a0231
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0246
a0247
a0248
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 210 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(207): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18945.hp2
NA18949.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 disruptive_inframe_deletion MODERATE c.13925_13930delAGGC
others(2): Show 
c.13925_13930delAGGCCG
 p.Glu4642_Ala4643del
p.Glu4642_Ala4643del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14005/16005 13925/15267 4642/5088 chr8 143859323
chr8:143859329 T
T
 TCGGCCTC
others(25142): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCACGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTTGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCAGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCACGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCAGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGTGGCGGCGGCGGCCTCTTGGGTCTCGCCCTCCCCCTGGCCCTCT
CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC
CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT
CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG
TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT
GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC
GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG
GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC
TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCACCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA
AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC
CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC
CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC
GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTG
GGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCG
GGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCG
GCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAG
GGTCCCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCA
CGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGG
CGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTC
TGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCT
GGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTG
CCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTC
GCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGC
CCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCG
CTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAG
CCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGA
GGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGG
TCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGC
CACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCG
TGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGG
TCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTC
GGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCT
CGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGG
TTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAG
CACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGA
TGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACG
CCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTC
CGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCT
CGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGC
CTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGAT
GACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCG
CGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAG
AAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTG
CACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGG
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGCGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGTGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGCTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCTGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCACGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTATTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG
CCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAG
TCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGC
GTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGA
TGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGC
CAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGA
CCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTC
CCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCATG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCG
GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC
CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC
AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG
ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA
GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG
ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC
TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG
GCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGG
ACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCA
CCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACG
GGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGC
CATGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCT
TCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATG
CAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTC
CTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCA
GGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCG
CGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGT
GAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGG
CCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACG
TCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCAT
GGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGG
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCACAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCAGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCACGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0063
a0063
 1 HG02809.hp1
HG02809.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(25145): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGTGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCTGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGG
CCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTG
TGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCT
GCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCC
GGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCG
CAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCG
AGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCG
AGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAG
ACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCG
GCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCC
GCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCC
GACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCT
CAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGC
TGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAG
GGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTA
CCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACC
AGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGC
GTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCAC
CGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGG
CCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCG
GCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGAT
CTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCA
TCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTG
CACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGA
CGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCT
TCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGC
CGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGG
CCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGC
GCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTC
TCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCA
GGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGG
GCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCC
GAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGC
GGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCG
TGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAG
CTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCG
CCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGC
CGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGG
CGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGG
CGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGC
AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG
CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC
CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC
CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGG
CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA
GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC
AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC
TACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGA
CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG
GCGTGCTGCGGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC
ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA
GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT
CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG
ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG
CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG
TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC
GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG
CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC
GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA
GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT
GCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCG
TCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGC
CAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCT
GGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGG
CCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGT
GCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCC
CGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGG
AGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACC
CGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCG
GCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCG
GGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAG
GGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTC
GACCCCAATACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGAT
GCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGT
GTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGC
TCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCC
GTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTC
CTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCG
GGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACG
CTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCAC
CAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCC
AGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCC
GGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCAT
CGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGG
GCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCC
GTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCA
GGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGG
AGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGC
GTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAA
CCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCA
ACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCC
GACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGC
CGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCG
TGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAG
CTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAG
CAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCA
CCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCC
GGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGA
GGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGC
TGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAG
TCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGC
CATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGG
ACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGC
GACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGA
GGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTT
CGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGG
GCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTG
CGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGC
AGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCC
TGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGC
GTCTCCGTCTGGGAGCTCCTCTTCTACCGTGAGGTGTCCGAGGACCGGCG
CCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGC
TGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGG
GCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCAGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAAGCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCAC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
GCCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCAC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCACCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCA
CCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGG
GACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCT
GGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCC
TCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTC
CGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGAT
CCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGC
AGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGG
TGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGA
GAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCA
CGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGAC
CCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGT
GGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCA
CCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCC
ATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGC
CCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGC
CCGTGGACGTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGT
GTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACAC
GCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACC
CGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTG
CACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGAC
GCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCC
TCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGA
TACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTC
GCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGA
GCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTC
AAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGC
GTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATC
ATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGC
CTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACT
CGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAAGAGGCC
GCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAG
GAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGG
CATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCG
ACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGC
GTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGT
CACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGG
CCATGCAGAAGGACCTCATCGTCTGGGAGCACGGCATCCGCCTGCTGGAG
GCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGT
GCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACC
GTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAAC
ACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGA
CCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCG
TGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTG
ACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCT
CCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCA
GATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACC
TCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGG
GAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGG
TCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTG
GCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTT
TGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCA
TCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGAC
GCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGA
CTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGG
CCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGTGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCTGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCAAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
TGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC
AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC
CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG
CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG
GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG
GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGC
CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC
TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC
AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC
CAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCATGT
GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG
GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT
GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC
TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGG
CAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA
GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG
ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC
TACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACAC
CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC
TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG
CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG
TGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCC
AGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGTGAGGTGTCCGAGGAC
CGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGA
GGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGG
CCCGGGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(25149): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuTrpAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr
gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP
roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu
GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh
rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA
rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla
GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl
uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgCysGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr
PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeu
ArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVa
lProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgG
luGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeu
ThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAl
aArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProA
laGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGly
GluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGln
ThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyAr
gProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaA
rgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPro
AspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLe
uSerLysValSerPheArgGlyLeuArgCysGlnValSerAlaSerGluL
euHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGln
GlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTy
rLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspG
lnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGly
ValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaTh
rGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluA
laValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSer
AlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIl
eSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyI
leArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVal
HisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAs
pGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyP
hePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArg
ArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGl
yArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuA
rgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVal
SerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGl
nAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuG
lyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAla
GluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAl
aAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProV
alTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGlu
LeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrAr
gArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgP
roGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGly
ArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGl
yGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuA
rgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVal
SerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAs
pGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuV
alAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLys
ValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisTh
rSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrL
ysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGlu
GlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGl
yArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuA
rgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPhe
ValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAl
aAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluA
rgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeu
PheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLe
uLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerH
isArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGlu
MetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAs
pProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysV
alProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGly
SerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAl
aArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValT
rpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeu
LeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaTh
rLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaG
luAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuA
laGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValArgValProValAspValAlaTyrArgArgGly
TyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspTh
rLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnL
euLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGln
LeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCy
sAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyG
lnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAsp
ArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGl
uGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnA
laArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProSerThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgLysLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyThrThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaAlaMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyHisGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyHisGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAs
pAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerV
alTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGlu
LeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAl
aValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValS
erPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSer
GlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysTh
rLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyT
hrArgCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArg
GlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgPr
oGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValI
leAspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAla
GlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAl
aValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheG
lnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeu
GluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisAr
gValProValAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetA
snArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspPro
AsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValPr
oAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerA
laValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArg
ValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGl
uLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuS
erArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeu
ThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAl
aGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetG
luValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspVal
LeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGl
uPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrA
laIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGln
AspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGl
yAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnG
luAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGluGlnThrLeuArg
AspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSe
rValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspG
luLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVal
AlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysVa
lSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrS
erGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLys
ThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGl
yThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyA
rgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArg
ProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheVa
lIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaA
laGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArg
AlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPh
eGlnAlaMetGlnLysAspLeuIleValTrpGluHisGlyIleArgLeuL
euGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHis
ArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMe
tAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspP
roAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVal
ProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySe
rAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaA
rgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrp
GluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLe
uSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrL
euThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGlu
AlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMe
tGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspV
alLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAla
GluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuTh
rAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuG
lnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAsp
GlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGl
nGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGl
uValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValL
euPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGln
HisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrAr
gValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyL
euArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGly
ProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluVa
lThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleA
laGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMet
SerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLe
uValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValA
rgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGly
GlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTy
rThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnL
ysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIle
AlaThrGlyGlyValIleAspProValHisSerHisArgValProValAs
pValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuA
laAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGlu
AsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspTh
rGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnL
euSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGly
SerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTy
rArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgA
laGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeu
AlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProAr
gProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValG
lyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGly
TyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGl
yThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluG
luAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArg
GlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyAr
gSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
LysGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuTrpAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluSerGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAr
gArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyG
lnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyr
LeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAl
aLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluT
hrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCysGlnVal
SerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuAr
gAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspS
erValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVal
ProAlaLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGlnAl
aMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluA
laGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeu
SerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGl
uLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrT
hrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVal
ArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVa
lIleAspProValHisSerHisArgValProValAspValAlaTyrArgA
rgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAsp
AspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVa
lGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetL
euGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeu
ArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGl
nGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerG
luAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThr
ValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAl
aGlnAlaArgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(11138): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGG
TGGCTGTGCACAGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGATGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGTACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0110
a0110
 1 HG02723.hp2
HG02723.hp2
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(11141): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCA
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTA
CGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGTGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTA
CCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTA
CATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCCGTGTGGGACGTACTGGCGTCCGGCTACGTGAGC
AGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACATCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCA
TGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCG
CAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTC
GGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGA
AGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACC
GGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCG
GGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCA
TCGACCCCGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAG
GCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCG
CGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCG
CCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCC
GCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCC
CGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAG
GGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGC
CAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGA
GCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGG
GGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAG
GCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCT
GCCCAACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGC
GGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCC
GAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGC
CCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGC
GCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAG
GACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAA
GGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGG
CCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAG
GAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCT
GTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGC
AGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCAC
GGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCC
TGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACT
TCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAG
GGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCT
GCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTGCAGCTGG
CAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCC
CTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAG
CGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGC
GCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAG
CTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCG
GGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(11145): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuHisAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuHisAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleValGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaHisProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProA
rgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArg
GlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGl
yAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspL
euProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGlu
AlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGl
uProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgG
luGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAsnLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AspProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaHisProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(12731): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCAGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCACGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGTGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC
CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA
GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC
AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC
CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGC
GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG
GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG
CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG
GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTC
ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG
GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA
GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG
AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC
GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG
CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG
ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG
CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGC
GGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTG
CCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGT
CTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGG
ACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGAC
ACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGC
GACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCT
CGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACG
GAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATC
ACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCT
CGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCT
CGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTG
CGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCC
GGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGC
AGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCA
CACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGG
CCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0209
a0209
 1 HG03139.hp1
HG03139.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(12734): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCA
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCAACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTA
CGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGTGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTA
CCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTA
CATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACACCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
AGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCA
TGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCG
CAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTC
GGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGA
AGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACC
GGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCG
GGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCA
TCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGTGCCCAGACCCCCGGGAG
GCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCG
CGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCG
CCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCT
GCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCC
CGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAG
GGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGC
CAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGA
GCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGG
GGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAG
GCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCT
GCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGC
GGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCC
GAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGC
CCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGC
GCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAG
GACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAA
GGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGG
CCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAG
GAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCT
GTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGC
AGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCAC
GGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCC
CGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACT
TCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAG
GGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCT
GCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTGCAGCTGG
CAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCC
CTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAG
CGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGC
GCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAG
CTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCG
GGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGC
GTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTG
CCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGA
GGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGA
CCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCC
CGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGC
CGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGG
AGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC
CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC
GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC
GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCAAC
CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG
CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC
ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC
ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT
GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC
CCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG
CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG
CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG
TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC
GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC
CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC
GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC
AGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA
GGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAGGGCTTCT
TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC
TGCGTGCCCGACCTGGACACCGGGCTCTATATGCTGCAGCTGGCAGGCCG
GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG
ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC
GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA
CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG
CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG
GCCG
 p.Ala4641_Glu4642ins
others(12738): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAsnLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleValGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAlaGluAlaGlySerProCysProAspProA
rgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArg
GlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerAr
gAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspL
euProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGlu
AlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGl
uProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgG
luGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AspProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaHisProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl
aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA
laValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAla
ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl
aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG
lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly
ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl
nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluG
lnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGly
ArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAl
aArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuP
roAsnLeuValAlaValLeuThrArgValIleGluGluThrGluGluArg
LeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGl
uLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaG
lnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArg
TyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAs
pGlnProGlyHisGlnGluLysMetSerIleTyrGlnAlaMetTrpLysG
lyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAla
ThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGl
uAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuS
erAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGln
IleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGl
yIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProV
alHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPhe
AspGluGluMetAsnArgValLeuAlaHisProSerAspAspThrLysGl
yPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuA
rgArgCysValProAspLeuAspThrGlyLeuTyrMetLeuGlnLeuAla
GlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLe
uArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerV
alSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArg
GlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLe
uGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgA
laGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(9545): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGATGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGTACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCC
 1 a0112
a0112
 1 HG03516.hp1
HG03516.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(9548): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCA
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGTG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTACTGGCGTCCGGCTA
CGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACATCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTA
CCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTA
TATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
GGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCAACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCA
TGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCG
CAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTC
GGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGA
AGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACC
GGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCG
GGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCA
TCGACCCCGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(9552): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leValGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaHi
sProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspLeuAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAsnLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaHisProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(12731): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGATGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGTACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC
CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA
GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC
AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC
CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGC
GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG
GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG
CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG
GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTC
ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG
GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA
GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG
AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC
GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG
CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG
ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG
CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGC
GGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTG
CCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGT
CTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGG
ACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGAC
ACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGC
GACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCT
CGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACG
GAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATC
ACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCT
CGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCT
CGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTG
CGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCC
GGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGC
AGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCA
CACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGG
CCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0111
a0111
 1 HG03540.hp1
HG03540.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(12734): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCA
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTA
CGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTA
CCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTA
CATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
GGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGTGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCA
TGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCG
CAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTC
GGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGA
AGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACC
GGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCG
GGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCA
TCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAG
GCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCG
CGCGGTGCCCGTGTGGGACGTACTGGCGTCCGGCTACGTGAGCAGGGCCG
CCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCC
GCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCC
CGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAG
GGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGC
CAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGA
GCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGG
GGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAG
GCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCT
GCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGC
GGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCC
GAGCTGCACACATCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGC
CCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGC
GCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAG
GACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAA
GGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGG
CCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAG
GAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCT
GTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGC
AGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCAC
GGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCC
CGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACT
TCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAG
GGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCT
GCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTGCAGCTGG
CAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCC
CTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAG
CGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGC
GCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAG
CTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCG
GGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGC
GTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTG
CCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGA
GGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGA
CCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCC
CGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGC
CGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGG
AGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC
CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC
GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC
GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCAAC
CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG
CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC
ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC
ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT
GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC
CCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG
CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG
CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG
TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC
GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC
CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC
GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC
AGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA
GGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAGGGCTTCT
TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC
TGCGTGCCCGACCTGGACACCGGGCTCTATATGCTGCAGCTGGCAGGCCG
GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG
ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC
GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA
CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG
CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG
GCCG
 p.Ala4641_Glu4642ins
others(12738): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuHisAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuHisAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleValGlyValLeu
ValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProA
rgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArg
GlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerAr
gAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspL
euProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGlu
AlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGl
uProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgG
luGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AspProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaHisProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl
aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA
laValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAla
ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl
aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG
lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly
ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl
nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluG
lnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGly
ArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAl
aArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuP
roAsnLeuValAlaValLeuThrArgValIleGluGluThrGluGluArg
LeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGl
uLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaG
lnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArg
TyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAs
pGlnProGlyHisGlnGluLysMetSerIleTyrGlnAlaMetTrpLysG
lyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAla
ThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGl
uAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuS
erAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGln
IleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGl
yIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProV
alHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPhe
AspGluGluMetAsnArgValLeuAlaHisProSerAspAspThrLysGl
yPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuA
rgArgCysValProAspLeuAspThrGlyLeuTyrMetLeuGlnLeuAla
GlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLe
uArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerV
alSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArg
GlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLe
uGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgA
laGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(9545): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTTGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCAGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGATGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGTACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCC
 1 a0113
a0113
 1 HG03130.hp2
HG03130.hp2
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(9548): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCA
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGTG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTACTGGCGTCCGGCTA
CGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACATCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTA
CCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTA
TATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
GGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCAACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCA
TGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCG
CAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTC
GGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGA
AGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACC
GGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCG
GGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCA
TCGACCCCGTGCACAGCCACCGTGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCCACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCTGGACACCGGGCTCTATATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(9552): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuHisA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuHisAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leValGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaHi
sProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspLeuAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAsnLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaHisProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspLeuAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(3191): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACGCGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTC
CTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGC
CGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCC
TGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGC
GGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACT
CGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGC
ACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTC
CATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGG
CCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTG
AGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCT
CAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCT
CCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACG
CGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGC
GGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGG
GCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTG
GGGTCGAAGAAACCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTT
CATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGC
GGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCC
AGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTG
GAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGG
CGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCC
GCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGAT
GACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGG
GCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGG
CGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 2 a0155
a0156
a0155
a0156
 2 HG02129.hp2
NA18944.hp1
HG02129.hp2
NA18944.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(3194): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
CCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGA
GCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCA
GGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCC
AGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGC
GAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGG
CCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGG
AGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCC
TCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCT
GGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCA
AGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCC
AAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTG
GAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGG
CGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTG
GAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCT
GCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGC
AGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAG
CACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGA
CCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCT
ACTTCGACGAGGAGATGAACCGCGTCCTGGCCGACCCCAGCGACGACACC
AAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCT
GCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGC
TGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGT
GCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCA
GAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACC
GGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAG
GAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGC
CCGGGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(3198): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgAr
gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP
heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu
SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe
uGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrG
luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer
AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs
pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV
alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro
AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe
tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG
lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer
ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy
sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG
lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg
GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl
eAspProValHisSerHisArgValProValAspValAlaTyrArgArgG
lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp
ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl
nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG
lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg
CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl
yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA
spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal
GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl
nAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluA
laLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArg
AlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAl
aArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProA
laLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaPro
GlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGl
yProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyG
lnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArg
ArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGl
nPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrL
euSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAla
LeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluTh
rGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValS
erAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArg
AspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSe
rValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValP
roAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAla
MetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAl
aGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuS
erValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGlu
LysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrTh
rGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValA
rgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVal
IleAspProValHisSerHisArgValProValAspValAlaTyrArgAr
gGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspA
spThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVal
GlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLe
uGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuA
rgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGln
GlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGl
uAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrV
alGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAla
GlnAlaArgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(4784): Show 
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCA
TCTCCTCGTTGAAGTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTC
CTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGC
CGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCC
TGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGC
GGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACT
CGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGC
ACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTC
CATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGG
CCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTG
AGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCT
CAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCT
CCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACG
CGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGC
GGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGG
GCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTG
GGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTT
CATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGC
GGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCC
AGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTG
GAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGG
CGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCC
GCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGAT
GACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGG
GCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGG
CGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTG
GTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAG
CGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCC
CGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAG
GACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGAC
GGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGA
GCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCAC
ACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGC
ATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGG
TCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCC
CCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAG
CTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCA
GCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCC
AGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTC
CCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGG
TGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0249
a0249
 1 NA18949.hp1
NA18949.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(4787): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGG
CCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTG
TGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCT
GCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCC
GGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCG
CAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCG
AGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCG
AGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAG
ACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCG
GCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCC
GCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCC
GACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCT
CAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGC
TGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAG
GGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTA
CCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACC
AGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGC
GTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCAC
CGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGG
CCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCG
GCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGAT
CTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCA
TCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTG
CACAGCCACCGCGTGCCCGTGGACGTGGCCTACCAGCGCGGCTACTTCAA
CGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCT
TCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGC
CGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGG
CCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGC
GCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTC
TCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCA
GGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAAGAGCTGG
GCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCC
GAGGCCG
 p.Ala4641_Glu4642ins
others(4791): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgCysGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAl
aGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgA
laAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPro
ValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGl
uLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrA
rgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
ProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGl
yArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluG
lyGluThrGlnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr
gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP
roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu
GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh
rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA
rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla
GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl
uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrGlnArgGlyTyr
PheAsnGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(3188): Show 
TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTG
GGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGT
CCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGG
AGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGT
CAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGG
CCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACG
TCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCAT
GGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCT
CGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGG
GTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAG
CAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCC
AGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGG
GCGTCGCGCAGAGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGA
GCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCA
CGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGG
TCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCAT
CTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGT
GGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGC
AGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAA
GAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGC
GCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCG
GCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGAC
GAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCC
GCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGG
CCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCC
CTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCT
TAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGAC
GTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACAC
CTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGA
CGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCG
TCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGA
GACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCAC
GCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0056
a0056
 1 HG03486.hp1
HG03486.hp1
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(3191): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCAGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
TCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAAGA
GCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(3195): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgAr
gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP
heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu
SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe
uGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrG
luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer
AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs
pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV
alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro
AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe
tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG
lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer
ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy
sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG
lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg
GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl
eAspProValHisSerHisArgValProValAspValAlaTyrGlnArgG
lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp
ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl
nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG
lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg
CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl
yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA
spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal
GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl
nAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluA
laLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArg
AlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAl
aArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProA
laLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaPro
GlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGl
yProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyG
lnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgCysGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 T
T
 TCGGCCTC
others(3188): Show 
TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTG
GGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGT
CCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGG
AGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGT
CAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGG
CCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACG
TCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCAT
GGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCT
CGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGG
GTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAG
CAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCC
AGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGG
GCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGA
GCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCA
CGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGG
TCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCAT
CTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGT
GGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGC
AGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAA
GAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGC
GCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCG
GCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGAC
GAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCC
GCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGG
CCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCC
CTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCT
TAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGAC
GTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACAC
CTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGA
CGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCG
TCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGA
GACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCAC
GCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
 1 a0058
a0058
 1 HG02818.hp2
HG02818.hp2
 conservative_inframe_insertion MODERATE c.13924_13925insGGAG
others(3191): Show 
c.13924_13925insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCAGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
CCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAAGA
GCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCG
 p.Ala4641_Glu4642ins
others(3195): Show 
p.Ala4641_Glu4642insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgAr
gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP
heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu
SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe
uGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrG
luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer
AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs
pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV
alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro
AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe
tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG
lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer
ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy
sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG
lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg
GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl
eAspProValHisSerHisArgValProValAspValAlaTyrGlnArgG
lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp
ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl
nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG
lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg
CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl
yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA
spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal
GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl
nAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluA
laLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArg
AlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAl
aArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProA
laLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaPro
GlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGl
yProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyG
lnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgCysGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 13924/15267 4642/5088 chr8 143859329
chr8:143859329 TCGGCCTC
others(1595): Show 
TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCC
 T
T
 2 a0004
a0137
a0004
a0137
 5 HG00558.hp1
NA18956.hp1
NA18975.hp1
others(2): Show 
HG00558.hp1
NA18956.hp1
NA18975.hp1
NA19007.hp1
NA19064.hp2
 disruptive_inframe_deletion MODERATE c.12323_13924del
c.12323_13924del
 p.Gly4108_Ala4641del
p.Gly4108_Ala4641del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 12323/15267 4108/5088 chr8 143859329
chr8:143859329 TCGGCCTC
others(3197): Show 
TCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCAT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCG
GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC
CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC
AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG
ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA
GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG
ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC
TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG
GCTCC
 T
T
 1 a0071
a0071
 1 NA20129.hp1
NA20129.hp1
 disruptive_inframe_deletion MODERATE c.10721_13924del
c.10721_13924del
 p.Gly3574_Ala4641del
p.Gly3574_Ala4641del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13999/16005 10721/15267 3574/5088 chr8 143859329
chr8:143859335 T
T
 TCGGCCCG
others(3155): Show 
TCGGCCCGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACG
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGACCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCAGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTG
GCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCC
CTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCG
GGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGC
GGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGG
CGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCG
CGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGC
CTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCATGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCAGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTC
CTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGC
CGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTAC
GAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCC
GCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGG
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCC
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 conservative_inframe_insertion MODERATE c.13918_13919insGGAG
others(3158): Show 
c.13918_13919insGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCTG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCATGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCCGCTGCCAGGAGCAGACCCTGCGTGATGCCAC
CATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGG
ACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTG
GCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCT
CACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCC
GCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATC
CTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCA
GGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCT
GCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAG
AAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCAC
GGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACC
CCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTG
GTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCAC
CGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCA
TGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCC
CAGGTCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCC
CGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCG
TCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACG
CACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCC
GGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGC
ACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACG
CCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCT
CTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGAT
ACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCG
CTGCTGGCCCAGGCCCAGGCCCGGGCCG
 p.Ala4639_Glu4640ins
others(3162): Show 
p.Ala4639_Glu4640insGlySerProArgProAspProArgGluAla
LeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAl
aValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaA
rgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAla
LeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGl
yAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyP
roAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGln
GlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGl
nThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyA
rgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAla
ArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPr
oAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgL
euSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGlu
LeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGl
nGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgT
yrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAsp
GlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGl
yValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaT
hrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGlu
AlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSe
rAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnI
leSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGly
IleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVa
lHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheA
spGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGly
PhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuAr
gArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaG
lyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeu
ArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVa
lSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgG
lnAspLeuLeuSerArgTyrArgAlaGlyMetLeuThrValGluGluLeu
GlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAl
aGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaT
hrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrp
AspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLe
uAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgL
euThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGln
LeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGl
yAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluT
hrGlnGluAlaAlaAlaAlaAlaArgCysGlnGluGlnThrLeuArgAsp
AlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVa
lTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluL
euLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAla
ValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSe
rPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerG
lyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThr
LeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyTh
rSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgG
lnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgPro
GlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIl
eAspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaG
lyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAla
ValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGl
nAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuG
luAlaGlnValAlaThrGlyGlyValIleAspProValHisSerHisArg
ValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAs
nArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProA
snThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValPro
AspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAl
aValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgV
alThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGlu
LeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSe
rArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuT
hrSerLeuLeuAlaGlnAlaGlnAlaArgAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13993/16005 13918/15267 4640/5088 chr8 143859335
chr8:143859336 C
C
 T
T
 1 a0189
a0189
 1 NA18982.hp2
NA18982.hp2
 missense_variant MODERATE c.13918G>A
c.13918G>A
 p.Glu4640Lys
p.Glu4640Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13993/16005 13918/15267 4640/5088 chr8 143859336
chr8:143859336 CGGCCTCG
others(5): Show 
CGGCCTCGGCCCG
 C
C
 1 a0040
a0040
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 conservative_inframe_deletion MODERATE c.13906_13917delCGGG
others(8): Show 
c.13906_13917delCGGGCCGAGGCC
 p.Arg4636_Ala4639del
p.Arg4636_Ala4639del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13992/16005 13906/15267 4636/5088 chr8 143859336
chr8:143859347 C
C
 T
T
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 missense_variant MODERATE c.13907G>A
c.13907G>A
 p.Arg4636Gln
p.Arg4636Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13982/16005 13907/15267 4636/5088 chr8 143859347
chr8:143859348 G
G
 C
C
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 missense_variant MODERATE c.13906C>G
c.13906C>G
 p.Arg4636Gly
p.Arg4636Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13981/16005 13906/15267 4636/5088 chr8 143859348
chr8:143859353 T
T
 C
C
 2 a0040
a0054
a0040
a0054
 3 HG01884.hp1
HG03491.hp1
HG03492.hp1
HG01884.hp1
HG03491.hp1
HG03492.hp1
 missense_variant MODERATE c.13901A>G
c.13901A>G
 p.Gln4634Arg
p.Gln4634Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13976/16005 13901/15267 4634/5088 chr8 143859353
chr8:143859356 G
G
 C
C
 1 a0220
a0220
 1 HG02647.hp2
HG02647.hp2
 missense_variant MODERATE c.13898C>G
c.13898C>G
 p.Ala4633Gly
p.Ala4633Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13973/16005 13898/15267 4633/5088 chr8 143859356
chr8:143859400 CTCCACGG
others(4790): Show 
CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC
GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC
TGGCCCTGGAGGGCGCCCGAGCCTGGCATCACGCGGGCGTCGCGCAGGGC
ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA
GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC
AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT
GGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTCGTCGAAGT
AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG
TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG
CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT
GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC
AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC
CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG
CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC
CACATGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTT
GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT
TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC
AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA
GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT
CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG
CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC
GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT
GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC
TGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC
CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG
CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG
GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT
CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT
CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC
ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG
CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC
GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC
TCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG
CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC
TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG
GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC
CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA
GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC
TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA
GTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG
GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG
TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG
CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA
GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC
TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC
CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT
TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC
TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG
CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG
CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG
GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG
CTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA
GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC
TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC
CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT
CCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCC
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA
GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT
GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG
CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC
CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG
AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC
GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC
CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC
TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA
CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT
CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG
GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC
CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT
CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG
CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTG
GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT
CGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGC
CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG
CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG
CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC
CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG
CTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT
GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC
CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC
GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG
CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG
GCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC
GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG
CCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCC
TGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCT
 C
C
 2 a0223
a0246
a0223
a0246
 2 NA19030.hp1
NA19064.hp1
NA19030.hp1
NA19064.hp1
 disruptive_inframe_deletion MODERATE c.9057_13853del
c.9057_13853del
 p.Glu3020_Glu4618del
p.Glu3020_Glu4618del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13928/16005 9057/15267 3019/5088 chr8 143859400
chr8:143859419 GCCCGGTA
others(1596): Show 
GCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCG
GTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCG
AGCCTGGCATCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTC
AGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCC
GGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGT
TCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGG
GCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCAC
GTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGG
CGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCC
TTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGT
GTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGC
CGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTG
CGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCAC
CAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGC
TCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCC
GCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGT
CACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGG
GGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTC
AGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGAC
CCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGT
GCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAG
AGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCAC
CTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGG
TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGC
 G
G
 1 a0173
a0173
 1 NA18942.hp2
NA18942.hp2
 frameshift_variant HIGH c.12232_13834del
c.12232_13834del
 p.Ala4078fs
p.Ala4078fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13909/16005 12232/15267 4078/5088 chr8 143859419
chr8:143859513 C
C
 T
T
 2 a0041
a0266
a0041
a0266
 3 HG00408.hp2
HG00621.hp2
NA19076.hp2
HG00408.hp2
HG00621.hp2
NA19076.hp2
 missense_variant MODERATE c.13741G>A
c.13741G>A
 p.Ala4581Thr
p.Ala4581Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13816/16005 13741/15267 4581/5088 chr8 143859513
chr8:143859527 A
A
 G
G
 176 a0003
a0007
a0008
others(173): Show 
a0003
a0007
a0008
a0009
a0010
a0011
a0014
a0015
a0021
a0022
a0023
a0024
a0025
a0026
a0029
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0068
a0069
a0070
a0072
a0073
a0075
a0076
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0097
a0098
a0100
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0120
a0121
a0122
a0123
a0124
a0128
a0129
a0130
a0132
a0133
a0141
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0162
a0163
a0164
a0165
a0166
a0187
a0192
a0194
a0202
a0206
a0207
a0208
a0209
a0210
a0211
a0213
a0215
a0216
a0217
a0218
a0219
a0222
a0224
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0248
a0249
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 222 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(219): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18949.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19004.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.13727T>C
c.13727T>C
 p.Met4576Thr
p.Met4576Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13802/16005 13727/15267 4576/5088 chr8 143859527
chr8:143859642 G
G
 A
A
 2 a0039
a0051
a0039
a0051
 3 HG02602.hp1
HG03831.hp2
HG04184.hp1
HG02602.hp1
HG03831.hp2
HG04184.hp1
 missense_variant MODERATE c.13612C>T
c.13612C>T
 p.Arg4538Cys
p.Arg4538Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13687/16005 13612/15267 4538/5088 chr8 143859642
chr8:143859705 C
C
 T
T
 1 a0084
a0084
 1 HG00140.hp1
HG00140.hp1
 missense_variant MODERATE c.13549G>A
c.13549G>A
 p.Asp4517Asn
p.Asp4517Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13624/16005 13549/15267 4517/5088 chr8 143859705
chr8:143859717 G
G
 C
C
 163 a0003
a0007
a0008
others(160): Show 
a0003
a0007
a0008
a0009
a0014
a0015
a0021
a0022
a0023
a0024
a0025
a0026
a0029
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0063
a0068
a0072
a0073
a0075
a0076
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0098
a0103
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0120
a0122
a0124
a0129
a0130
a0132
a0133
a0141
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0162
a0163
a0164
a0165
a0166
a0187
a0192
a0194
a0202
a0206
a0207
a0208
a0209
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0224
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0248
a0249
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 205 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(202): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02293.hp1
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02965.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18949.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.13537C>G
c.13537C>G
 p.His4513Asp
p.His4513Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13612/16005 13537/15267 4513/5088 chr8 143859717
chr8:143859717 GGGCCAGG
others(1595): Show 
GGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTC
 G
G
 1 a0101
a0101
 1 HG02055.hp2
HG02055.hp2
 conservative_inframe_deletion MODERATE c.11935_13536del
c.11935_13536del
 p.Asp3979_Ala4512del
p.Asp3979_Ala4512del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13611/16005 11935/15267 3979/5088 chr8 143859717
chr8:143859728 C
C
 T
T
 1 a0180
a0180
 1 NA18994.hp2
NA18994.hp2
 missense_variant MODERATE c.13526G>A
c.13526G>A
 p.Arg4509His
p.Arg4509His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13601/16005 13526/15267 4509/5088 chr8 143859728
chr8:143859755 C
C
 T
T
 1 a0297
a0297
 1 NA20805.hp1
NA20805.hp1
 missense_variant MODERATE c.13499G>A
c.13499G>A
 p.Arg4500His
p.Arg4500His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13574/16005 13499/15267 4500/5088 chr8 143859755
chr8:143859758 C
C
 T
T
 3 a0192
a0248
a0249
a0192
a0248
a0249
 3 NA18949.hp1
NA18979.hp2
NA19090.hp1
NA18949.hp1
NA18979.hp2
NA19090.hp1
 missense_variant MODERATE c.13496G>A
c.13496G>A
 p.Arg4499Gln
p.Arg4499Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13571/16005 13496/15267 4499/5088 chr8 143859758
chr8:143859828 C
C
 G
G
 3 a0110
a0111
a0112
a0110
a0111
a0112
 3 HG02723.hp2
HG03516.hp1
HG03540.hp1
HG02723.hp2
HG03516.hp1
HG03540.hp1
 missense_variant MODERATE c.13426G>C
c.13426G>C
 p.Ala4476Pro
p.Ala4476Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13501/16005 13426/15267 4476/5088 chr8 143859828
chr8:143859930 C
C
 T
T
 1 a0276
a0276
 1 HG01433.hp2
HG01433.hp2
 missense_variant MODERATE c.13324G>A
c.13324G>A
 p.Val4442Ile
p.Val4442Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13399/16005 13324/15267 4442/5088 chr8 143859930
chr8:143859939 C
C
 T
T
 1 a0274
a0274
 1 HG01175.hp1
HG01175.hp1
 missense_variant MODERATE c.13315G>A
c.13315G>A
 p.Glu4439Lys
p.Glu4439Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13390/16005 13315/15267 4439/5088 chr8 143859939
chr8:143860023 C
C
 T
T
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 missense_variant MODERATE c.13231G>A
c.13231G>A
 p.Val4411Met
p.Val4411Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13306/16005 13231/15267 4411/5088 chr8 143860023
chr8:143860029 C
C
 T
T
 1 a0275
a0275
 1 HG01255.hp1
HG01255.hp1
 missense_variant MODERATE c.13225G>A
c.13225G>A
 p.Asp4409Asn
p.Asp4409Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13300/16005 13225/15267 4409/5088 chr8 143860029
chr8:143860041 C
C
 CGGTGGCC
others(3188): Show 
CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC
ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG
CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA
GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG
CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC
CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG
CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG
GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT
CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT
CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC
ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG
CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC
GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC
TCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG
CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC
TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG
GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC
CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA
GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC
TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA
GTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG
GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG
TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG
CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA
GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC
TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC
CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT
TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC
TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG
CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG
CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG
GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG
CTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA
GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC
TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC
CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT
CCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA
GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT
GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG
CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC
CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG
AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC
GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC
CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC
TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA
CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT
CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCT
 1 a0117
a0117
 1 NA20300.hp2
NA20300.hp2
 conservative_inframe_insertion MODERATE c.13212_13213insAGCT
others(3191): Show 
c.13212_13213insAGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACC
 p.Thr4404_Gly4405ins
others(3195): Show 
p.Thr4404_Gly4405insSerPheValIleAspProValArgAsnLeu
ArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIl
eGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspP
roTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeu
IleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGl
yGlyValIleAspProValHisSerHisArgValProValAspValAlaT
yrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPro
SerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuTh
rTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuT
yrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGlu
GluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAl
aLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluV
alSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThr
LeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAl
aGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspP
roArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeu
ArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSe
rArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuA
spLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGlu
GluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProAr
gGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnA
rgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCysGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13287/16005 13212/15267 4404/5088 chr8 143860041
chr8:143860089 GCACGCCC
others(3): Show 
GCACGCCCTTC
 G
G
 1 a0275
a0275
 1 HG01255.hp1
HG01255.hp1
 frameshift_variant HIGH c.13155_13164delGAAG
others(6): Show 
c.13155_13164delGAAGGGCGTG
 p.Trp4385fs
p.Trp4385fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13239/16005 13155/15267 4385/5088 chr8 143860089
chr8:143860133 T
T
 C
C
 167 a0003
a0007
a0008
others(164): Show 
a0003
a0007
a0008
a0009
a0014
a0015
a0019
a0021
a0022
a0023
a0024
a0025
a0026
a0029
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0063
a0068
a0072
a0073
a0075
a0076
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0096
a0098
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0116
a0117
a0119
a0120
a0122
a0123
a0129
a0130
a0132
a0133
a0142
a0143
a0144
a0145
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0161
a0162
a0163
a0164
a0165
a0166
a0187
a0192
a0198
a0202
a0206
a0207
a0208
a0209
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0248
a0249
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
a0306
 211 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(208): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18949.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp1
NA19091.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.13121A>G
c.13121A>G
 p.His4374Arg
p.His4374Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13196/16005 13121/15267 4374/5088 chr8 143860133
chr8:143860133 T
T
 TGGCCGGG
others(4772): Show 
TGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTC
TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC
TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT
GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC
CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCCAG
CAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCC
ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG
GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC
CTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGG
CGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGG
TCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGAC
GGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGT
CGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCC
CGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCA
GCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGA
AGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCC
TCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCT
GTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGC
GGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGG
GAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTC
GGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCA
CGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAG
CCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAG
CACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGG
GCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCC
AGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGT
GCCCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGT
GCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTG
CTGAGCCGCTCCTCCGTCTCCTTGATGACCCGGGTGAGGACGGCGACGAG
GTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTC
GGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACC
GGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAG
GGTCTGCTCCTGGCGGCGGGCGGCGGCGGCAGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCACGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGTTCC
TCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACG
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTG
GCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCC
CTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCG
GGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGC
GGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGG
CGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCG
CGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGC
CTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCT
GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGTGCCCAGCTCCTCC
ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC
CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC
CCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAG
CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG
CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT
GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG
TCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC
GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA
TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC
CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC
GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT
TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC
GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG
CGCCTCCAGCAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCACA
TGGCCTGGTAGATGCTCATCTTCTCCTGGC
 1 a0194
a0194
 1 HG02257.hp2
HG02257.hp2
 conservative_inframe_insertion MODERATE c.13120_13121insGCCA
others(4775): Show 
c.13120_13121insGCCAGGAGAAGATGAGCATCTACCAGGCCATGTG
GAAGGGCGTGCTGCGGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGG
CGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTG
GAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCT
GCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGC
AGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAG
CACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGA
CCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCT
ACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACC
AAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCT
GCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGC
TGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGT
GCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCA
GAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACC
GGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAG
GAGCTGGGCACCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGC
CCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCC
TGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCG
GTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCG
GGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGC
TGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGG
GCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCC
AGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGG
GGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAG
ACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCG
GCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCC
GCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCC
GACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCT
CAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGC
TGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAG
GGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTA
CCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACC
AGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGC
GTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCAC
CGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGG
CCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCG
GCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGAT
CTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCA
TCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTG
CACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGA
CGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCT
TCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGC
CGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGG
CCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGC
GCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTC
TCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCA
GGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGG
GCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCC
GAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGC
GGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCG
TGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAA
CTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCG
CCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGC
CGCAGCTCCAGGACGCCTGGCGTGGCCCGCGGGAGCCAGGGCCAGCCGGG
CGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGG
CGAGACCCAGGAGGCTGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCAAGGAGACGGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTG
CTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCAC
CCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCG
AGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACC
ATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGA
CGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGG
CCGAGTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTG
ACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCT
CCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGG
ACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACC
CAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
 p.Gly4373_His4374ins
others(4779): Show 
p.Gly4373_His4374insArgGlnGluLysMetSerIleTyrGlnAla
MetTrpLysGlyValLeuArgProGlyMetAlaLeuValLeuLeuGluAl
aGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuS
erValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGlu
LysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrTh
rGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValA
rgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVal
IleAspProValHisSerHisArgValProValAspValAlaTyrArgAr
gGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspA
spThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVal
GlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLe
uGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuA
rgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGln
GlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGl
uAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrV
alGluGluLeuGlyThrThrLeuThrSerLeuLeuAlaGlnAlaGlnAla
GlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGl
uAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyA
rgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAla
AlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuPr
oAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaP
roGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluPro
GlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGl
yGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr
PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeu
ArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVa
lProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgG
luGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeu
ThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAl
aArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProA
laGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGly
GluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleLysGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuTrpAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLe
uLeuAlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArg
AspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSe
rValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspG
luLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVal
AlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysVa
lSerPheArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThrS
erGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLys
ThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGl
yThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13195/16005 13120/15267 4374/5088 chr8 143860133
chr8:143860133 T
T
 TGGCCGGG
others(3197): Show 
TGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTG
GTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAG
CGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCC
CGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAG
GACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGAC
GGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCATGCTGGGCCAGGA
GCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCAC
ACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGC
ATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGG
CCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAG
TCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGC
GTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGA
TGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGC
CAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGA
CCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTC
CCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGC
 1 a0191
a0191
 1 HG01361.hp1
HG01361.hp1
 conservative_inframe_insertion MODERATE c.13120_13121insGCCA
others(3200): Show 
c.13120_13121insGCCAGGAGAAGATGAGCATCTACCAGGCCATGTG
GAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGG
CGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTG
GAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCT
GCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGC
AGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAG
CACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGA
CCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCT
ACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACC
AAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCT
GCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGC
TGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGT
GCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCA
GAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACC
GGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAG
GAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGC
CCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCC
TGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCG
GTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCG
GGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGC
TGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGG
GCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCC
AGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGG
GGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCGCCGCCGCCCGCCGC
CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT
CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA
GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCATGCGGCCGGCGCCCTG
GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA
GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG
CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGAC
CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT
CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG
CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG
TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA
GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG
TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG
CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG
GCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGG
AGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATC
GACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGG
CTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACA
CCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAG
CTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCA
GCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCT
GTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGC
CAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGA
CCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGG
AGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAG
GCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGC
CCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCG
CGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCC
CGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGC
GCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCG
GGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGG
CCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCA
GGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCGCCGCCGCCCGCC
GCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAG
TTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCT
GAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCC
TGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACG
GAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTC
CGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGG
ACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCG
GTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCC
CGCCAAGGACCAGCCCGGCC
 p.Arg3306_Gly4373dup
p.Arg3306_Gly4373dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13195/16005 13120/15267 4374/5088 chr8 143860133
chr8:143860133 TGGCCGGG
others(1595): Show 
TGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGT
GCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCG
TCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCG
GACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGA
CACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGG
CGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGC
TCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACAC
GGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCAT
CACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGC
 T
T
 7 a0013
a0020
a0035
others(4): Show 
a0013
a0020
a0035
a0064
a0138
a0151
a0229
 12 HG00544.hp1
HG00733.hp2
HG02027.hp2
others(9): Show 
HG00544.hp1
HG00733.hp2
HG02027.hp2
HG02723.hp1
NA18612.hp1
NA18947.hp1
NA18950.hp1
NA18956.hp2
NA18973.hp1
NA18995.hp2
NA18997.hp1
NA19000.hp1
 disruptive_inframe_deletion MODERATE c.11519_13120del
c.11519_13120del
 p.Arg3840_Gly4373del
p.Arg3840_Gly4373del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13195/16005 11519/15267 3840/5088 chr8 143860133
chr8:143860158 C
C
 G
G
 1 a0055
a0055
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.13096G>C
c.13096G>C
 p.Val4366Leu
p.Val4366Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13171/16005 13096/15267 4366/5088 chr8 143860158
chr8:143860242 C
C
 T
T
 2 a0092
a0228
a0092
a0228
 2 HG00408.hp1
HG00423.hp1
HG00408.hp1
HG00423.hp1
 missense_variant MODERATE c.13012G>A
c.13012G>A
 p.Gly4338Ser
p.Gly4338Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13087/16005 13012/15267 4338/5088 chr8 143860242
chr8:143860256 C
C
 T
T
 1 a0128
a0128
 1 HG02896.hp1
HG02896.hp1
 missense_variant MODERATE c.12998G>A
c.12998G>A
 p.Arg4333Gln
p.Arg4333Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13073/16005 12998/15267 4333/5088 chr8 143860256
chr8:143860257 G
G
 GCAGGGTC
others(12737): Show 
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC
TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG
CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT
CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC
AGGGTCCCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT
CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA
GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG
TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC
CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCG
TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC
TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC
GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT
CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG
AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT
GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG
GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAG
GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC
CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA
GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG
TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT
CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA
GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC
AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA
GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA
CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC
TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCACAGGGT
CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC
GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCG
ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC
CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG
AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC
TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC
GGCGGCAGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGC
GCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCG
CGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTC
CTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCC
CCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAG
CCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCC
CACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGC
GCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCC
AGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGC
CCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGT
AGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAG
CCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAG
CTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGG
TGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTC
TCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGC
CAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGT
CCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCG
ATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTT
CTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGT
AGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCG
CCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCG
CACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCA
GGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTC
ATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGC
GATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCA
CCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGG
CCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAG
GCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCC
GGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCACGTGC
TGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAG
GACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCT
CCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCG
GCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGA
GTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGG
CGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATG
ATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCC
AGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACG
CCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTG
ACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCT
CCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCG
AGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTAT
CTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAG
GAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCG
TCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGC
ACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGG
GTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCG
TGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACA
CGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGG
CACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGG
CCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATG
GCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGT
GACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCA
CGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGG
TCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGT
GCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCT
CCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAG
CTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTG
CAGCGTCTTAGTGCCCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGA
TCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGG
AAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAG
GACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCA
GGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCC
CACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGT
GGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCAGCCTCCT
GGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCG
TCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTG
GAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGG
TCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCG
GCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCAC
GTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCA
TGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCC
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTCGGGCAGGCCCAGGGCGCCGGCCACGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCACGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCATGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCA
 1 a0124
a0124
 1 HG02572.hp1
HG02572.hp1
 conservative_inframe_insertion MODERATE c.12996_12997insTGGG
others(12740): Show 
c.12996_12997insTGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCATGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GTGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGTGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGTGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCG
GTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAA
GCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCG
GGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGG
GAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCAT
CGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCG
GCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGAC
ACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCA
GCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGC
AGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGC
TGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGG
CCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGG
ACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTG
GAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCA
GGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGG
CCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGC
GCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGC
CCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGGGACCCTGGACTTGCCCG
CGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCC
GGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGG
GCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCC
AGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAG
CAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGG
GCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGG
CCCGCCGAGACGAGCTCCTGGCCCAGCACGTGGCCGGCGCCCTGGGCCTG
CCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCG
GCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCG
AGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCC
CAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCG
CTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGG
ACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAG
GGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGC
CACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGG
AGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTG
TCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCA
GATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACG
GCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCC
GTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTT
CGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGG
GCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTG
CGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGC
AGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCC
TGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGC
GTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCG
CCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGC
TGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGG
GCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCTGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGTGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCTGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACC
ATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGA
CGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGG
CCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTC
ACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCG
CGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCC
TGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCACTAAGACGCTGCAG
GAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTG
CATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGA
AGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTG
 p.Leu4332_Arg4333ins
others(12744): Show 
p.Leu4332_Arg4333insTrpAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyM
etValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSer
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisValAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuTrpAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuT
rpAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyA
laAlaArgGluGluLeuLeuAlaGluSerGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisValAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGln
ThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyAr
gProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaA
rgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPro
AspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLe
uSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluL
euHisThrSerGlyIleLeuGlyProGluThrLeuTrpAspLeuAlaGln
GlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTy
rLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspG
lnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGly
ValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaTh
rGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluA
laValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSer
AlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIl
eSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyI
leArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVal
HisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAs
pGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyP
hePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArg
ArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGl
yArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuA
rgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVal
SerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGl
nAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuG
lyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAla
GluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAl
aAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProV
alTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGlu
LeuLeuAlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrAr
gArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgP
roGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGly
ArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGl
yGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuA
rgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVal
SerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAs
pGluLeuLeuAlaGlnHisValAlaGlyAlaLeuGlyLeuProAspLeuV
alAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLys
ValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisTh
rSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrL
ysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGlu
GlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGl
yArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuA
rgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPhe
ValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAl
aAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluA
rgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeu
PheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLe
uLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerH
isArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGlu
MetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAs
pProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysV
alProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGly
SerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAl
aArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValT
rpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeu
LeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaTh
rLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaG
luAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuTrpAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGln
GluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGl
yThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleA
spProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGly
ValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVa
lThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnA
laMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGlu
AlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVa
lProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnA
rgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsn
ThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAs
pProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaV
alHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVal
ThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLe
uLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerA
rgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThr
SerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGl
ySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluV
alLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeu
AlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSe
rGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaI
leIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAsp
AlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAs
pSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluA
laAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMet
GluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVa
lLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaG
lnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThr
ArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGl
yLeuArgCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuG
lyProGluThrLeu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13071/16005 12996/15267 4332/5088 chr8 143860257
chr8:143860314 G
G
 A
A
 9 a0024
a0059
a0103
others(6): Show 
a0024
a0059
a0103
a0114
a0115
a0141
a0180
a0181
a0224
 10 HG01192.hp1
HG02258.hp1
HG02300.hp1
others(7): Show 
HG01192.hp1
HG02258.hp1
HG02300.hp1
HG03130.hp1
HG03139.hp2
HG03453.hp1
HG03579.hp1
NA18994.hp2
NA19057.hp2
NA20129.hp2
 missense_variant MODERATE c.12940C>T
c.12940C>T
 p.Arg4314Cys
p.Arg4314Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13015/16005 12940/15267 4314/5088 chr8 143860314
chr8:143860314 G
G
 GCCTCAGG
others(3197): Show 
GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCG
ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC
CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG
AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC
TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC
GGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC
GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC
CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG
CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG
GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG
GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG
GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG
CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA
CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG
GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC
CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT
AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC
GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT
GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGT
AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG
CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT
GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG
GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG
ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT
CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA
GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG
TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCT
CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG
GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA
GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC
GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG
GCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTC
TCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCT
CCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCC
TCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAA
GTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCC
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCA
 1 a0139
a0139
 1 NA19066.hp2
NA19066.hp2
 conservative_inframe_insertion MODERATE c.9736_12939dupTGCCA
others(3199): Show 
c.9736_12939dupTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGG
GATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGC
TGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACC
AGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCA
GGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCG
GCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATC
GACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGG
CGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCG
TCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAG
GCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGA
GGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCG
TGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAAC
CGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAA
CACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCG
ACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCC
GTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGT
GACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGC
TCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGC
AGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCAC
CTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCG
GGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAG
GTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCT
GGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGT
TTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCC
ATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGA
CGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCG
ACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAG
GCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
GCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCA
CCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGC
CAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCC
CGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCA
TCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCG
GGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGC
CGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGG
AGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTG
CTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGA
GTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCG
CCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAG
GACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGG
CGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGG
AGGCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGG
 p.Arg4313_Arg4314ins
others(3204): Show 
p.Arg4313_Arg4314insCysGlnValSerAlaSerGluLeuHisThr
SerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLy
sThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluG
lyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGly
ArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuAr
gProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheV
alIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAla
AlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluAr
gAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuP
heGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeu
LeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHi
sArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluM
etAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAsp
ProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVa
lProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlyS
erAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAla
ArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTr
pGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuL
euSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThr
LeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGl
uAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrM
etGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAsp
ValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAl
aGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuT
hrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeu
GlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAs
pGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrG
lnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGluGlnThrLeu
ArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVa
lSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgA
spGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeu
ValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLy
sValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisT
hrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThr
LysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGl
uGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProG
lyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeu
ArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPh
eValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValA
laAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGluGlnThrL
euArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgPro
ValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgAr
gAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspL
euValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSer
LysValSerPheArgGlyLeuArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13014/16005 12939/15267 4313/5088 chr8 143860314
chr8:143860323 C
C
 T
T
 1 a0085
a0085
 1 HG00558.hp2
HG00558.hp2
 missense_variant MODERATE c.12931G>A
c.12931G>A
 p.Gly4311Ser
p.Gly4311Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13006/16005 12931/15267 4311/5088 chr8 143860323
chr8:143860373 G
G
 A
A
 1 a0261
a0261
 1 NA19089.hp1
NA19089.hp1
 missense_variant MODERATE c.12881C>T
c.12881C>T
 p.Thr4294Ile
p.Thr4294Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12956/16005 12881/15267 4294/5088 chr8 143860373
chr8:143860439 C
C
 T
T
 1 a0018
a0018
 3 NA18968.hp2
NA18983.hp1
NA19000.hp2
NA18968.hp2
NA18983.hp1
NA19000.hp2
 missense_variant MODERATE c.12815G>A
c.12815G>A
 p.Arg4272Gln
p.Arg4272Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12890/16005 12815/15267 4272/5088 chr8 143860439
chr8:143860442 C
C
 T
T
 1 a0202
a0202
 1 NA18986.hp1
NA18986.hp1
 missense_variant MODERATE c.12812G>A
c.12812G>A
 p.Arg4271His
p.Arg4271His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12887/16005 12812/15267 4271/5088 chr8 143860442
chr8:143860556 C
C
 T
T
 2 a0186
a0187
a0186
a0187
 2 NA18969.hp2
NA19080.hp2
NA18969.hp2
NA19080.hp2
 missense_variant MODERATE c.12698G>A
c.12698G>A
 p.Arg4233His
p.Arg4233His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12773/16005 12698/15267 4233/5088 chr8 143860556
chr8:143860557 G
G
 GGGC
GGGC
 13 a0039
a0042
a0046
others(10): Show 
a0039
a0042
a0046
a0047
a0051
a0054
a0093
a0216
a0222
a0241
a0259
a0282
a0285
 17 HG00099.hp1
HG00609.hp1
HG01099.hp1
others(14): Show 
HG00099.hp1
HG00609.hp1
HG01099.hp1
HG01884.hp1
HG02602.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp1
HG03654.hp1
HG03669.hp1
HG03831.hp2
HG04115.hp1
HG04184.hp1
NA18963.hp1
NA18975.hp2
NA18979.hp1
NA19074.hp2
 conservative_inframe_insertion MODERATE c.12694_12696dupGCC
c.12694_12696dupGCC
 p.Ala4232dup
p.Ala4232dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12771/16005 12696/15267 4232/5088 chr8 143860557
chr8:143860560 CGGCGGCG
others(2): Show 
CGGCGGCGGT
 C
C
 27 a0015
a0024
a0025
others(24): Show 
a0015
a0024
a0025
a0029
a0056
a0057
a0058
a0060
a0063
a0068
a0103
a0104
a0110
a0111
a0112
a0113
a0114
a0115
a0117
a0120
a0124
a0132
a0162
a0202
a0209
a0224
a0225
 32 HG01192.hp1
HG02300.hp1
HG02559.hp1
others(29): Show 
HG01192.hp1
HG02300.hp1
HG02559.hp1
HG02572.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
NA18906.hp2
NA18986.hp1
NA19043.hp1
NA19043.hp2
NA20129.hp2
NA20300.hp2
NA20905.hp1
 conservative_inframe_deletion MODERATE c.12685_12693delACCG
others(5): Show 
c.12685_12693delACCGCCGCC
 p.Thr4229_Ala4231del
p.Thr4229_Ala4231del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12768/16005 12685/15267 4229/5088 chr8 143860560
chr8:143860566 C
C
 CGGCGGCC
others(3179): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
GGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGC
GCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCG
CGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTC
CTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCC
CCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAG
CCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCC
CACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGC
GCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCC
AGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGC
CCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGT
AGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAG
CCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAG
CTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGG
TGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTC
TCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGC
CAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGT
CCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCG
ATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTT
CTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGT
AGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCG
CCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCG
CACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCA
GGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTC
ATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGC
GATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCA
CCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGG
CCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAG
GCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCC
GGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGC
TGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAG
GACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCT
CCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0059
a0059
 1 HG03139.hp2
HG03139.hp2
 conservative_inframe_insertion MODERATE c.12687_12688insCGCC
others(3182): Show 
c.12687_12688insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCAC
CATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGG
ACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTG
GCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCT
CACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCC
GCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATC
CTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCA
GGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCT
GCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAG
AAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCAC
GGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACC
CCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTG
GTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCAC
CGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCA
TGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCC
CAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCC
CGTGGACGTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTG
TCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACG
CACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCC
GGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGC
ACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACG
CCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCT
CTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGAT
ACCGGGCGGGCACGCTGACCGTGGAAGAGCTGGGCGCCACCCTCACCTCG
CTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CC
 p.Thr4229_Ala4230ins
others(3186): Show 
p.Thr4229_Ala4230insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspA
laThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVal
TrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLe
uLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaV
alLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSer
PheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGl
yIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrL
euGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThr
SerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGl
nGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProG
lyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIle
AspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGl
yValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaV
alThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGln
AlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGl
uAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgV
alProValAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsn
ArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAs
nThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProA
spProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAla
ValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgVa
lThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluL
euLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSer
ArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuTh
rSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaG
lySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGlu
ValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLe
uAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluP
heGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAla
IleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAs
pAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyA
spSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGlu
AlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12762/16005 12687/15267 4229/5088 chr8 143860566
chr8:143860566 C
C
 CGGCGGCC
others(12737): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCACAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTTGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCAGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCACGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCAGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGTGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCG
CTCGGCTGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGC
CCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGC
CCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGG
CCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGC
GGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGC
TCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACAC
GGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCG
CACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCG
GCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCC
CAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCT
GGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAG
ACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCG
CAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGC
CTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGG
CGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAA
GCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGT
CGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGC
ACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGAT
GCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGA
TCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCC
GACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGC
CTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGG
TGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACG
CCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTG
GTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGT
AGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCC
TGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAG
CTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGA
GCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCG
GGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCG
GGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCC
GCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTC
TGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGTCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTTGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCAGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCACGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGTGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0141
a0141
 1 HG02258.hp1
HG02258.hp1
 conservative_inframe_insertion MODERATE c.12687_12688insCGCC
others(12740): Show 
c.12687_12688insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCACCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGTGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCTGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCAAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGTGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCG
GTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAA
GCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCG
GGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGG
GAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCAT
CGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCAGCGCG
ACTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGAC
ACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCA
GCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGC
AGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGC
TGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGG
CCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGG
ACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTG
GAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCA
GGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGG
CCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGC
GCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGC
CCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCG
CGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCC
GGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGG
GCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCC
AGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGC
CGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCA
GTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACC
TGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCC
CTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGAC
CGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGT
CCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGG
GACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTC
GGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGC
CCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCC
ATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGC
GCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGT
CGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAG
AAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACAC
CGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCC
GGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTC
ATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCG
CGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACG
ACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTG
CAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCT
GCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGC
GCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAG
GGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGA
GGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCG
TGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCC
CAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGA
GGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGC
GCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCC
GCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCC
CGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCC
CCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCA
GGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGG
CCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCAGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
CCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGA
GCTGGGCACCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCTGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGG
CCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTG
TGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCT
GCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCC
GGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCG
CAGCTCCAGGACGCCTGGCGTGGCCCGCGGGAGCCAGGGCCAGCCGGGCG
AGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCG
AGACCCAGGAGGCTGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCAAGGAGACGGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCC
 p.Thr4229_Ala4230ins
others(12744): Show 
p.Thr4229_Ala4230insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyThrThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eLysGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuTrpAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluSerGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCysGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrGln
ArgAspTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProA
rgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArg
GlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerAr
gAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspL
euProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGlu
AlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGl
uProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgG
luGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgCysGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AspProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyThrThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl
aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA
laValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAla
ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl
aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG
lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly
ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl
nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluG
lnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGly
ArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAl
aArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuP
roAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArg
LeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGl
uLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaG
lnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArg
TyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAs
pGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysG
lyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAla
ThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGl
uAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuS
erAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGln
IleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGl
yIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProV
alHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPhe
AspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGl
yPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuA
rgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAla
GlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLe
uArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerV
alSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArg
GlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLe
uGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgA
laGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArg
AlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPr
oValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluG
luLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThr
ArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaAr
gProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaG
lyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGlu
GlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLe
uArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProV
alSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArg
AspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLe
uValAlaValLeuThrArgValIleLysGluThrGluGluArgLeuSerL
ysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHis
ThrSerGlyIleLeuGlyProGluThrLeuTrpAspLeuAlaGlnGlyTh
rLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuG
luGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnPro
GlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLe
uArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyP
heValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaVal
AlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGl
uArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerL
euPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArg
LeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSe
rHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluG
luMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePhe
AspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCy
sValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgG
lySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAsp
AlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVa
lTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspL
euLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAla
ThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAl
aGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaT
hrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrp
AspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLe
uAlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgL
euThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGln
LeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGl
yAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluT
hrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12762/16005 12687/15267 4229/5088 chr8 143860566
chr8:143860569 T
T
 C
C
 111 a0007
a0008
a0009
others(108): Show 
a0007
a0008
a0009
a0014
a0021
a0022
a0023
a0026
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0059
a0078
a0089
a0090
a0093
a0094
a0096
a0105
a0122
a0130
a0133
a0141
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0163
a0164
a0165
a0206
a0207
a0208
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0244
a0248
a0249
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0288
a0289
a0290
a0291
a0293
a0302
a0303
a0304
a0305
a0306
 142 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(139): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00408.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03139.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18949.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp2
 missense_variant MODERATE c.12685A>G
c.12685A>G
 p.Thr4229Ala
p.Thr4229Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12760/16005 12685/15267 4229/5088 chr8 143860569
chr8:143860569 TGGCGGCG
others(4796): Show 
TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCA
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG
CGGC
 T
T
 2 a0027
a0152
a0027
a0152
 3 HG02818.hp1
HG02895.hp1
HG02896.hp2
HG02818.hp1
HG02895.hp1
HG02896.hp2
 conservative_inframe_deletion MODERATE c.7882_12684del
c.7882_12684del
 p.Ala2628_Ala4228del
p.Ala2628_Ala4228del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12759/16005 7882/15267 2628/5088 chr8 143860569
chr8:143860577 G
G
 C
C
 1 a0009
a0009
 3 HG01257.hp1
HG01952.hp2
HG02004.hp1
HG01257.hp1
HG01952.hp2
HG02004.hp1
 missense_variant MODERATE c.12677C>G
c.12677C>G
 p.Ala4226Gly
p.Ala4226Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12752/16005 12677/15267 4226/5088 chr8 143860577
chr8:143860608 C
C
 T
T
 1 a0259
a0259
 1 HG03239.hp2
HG03239.hp2
 missense_variant MODERATE c.12646G>A
c.12646G>A
 p.Gly4216Ser
p.Gly4216Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12721/16005 12646/15267 4216/5088 chr8 143860608
chr8:143860613 C
C
 T
T
 1 a0259
a0259
 1 HG03239.hp2
HG03239.hp2
 missense_variant MODERATE c.12641G>A
c.12641G>A
 p.Arg4214Gln
p.Arg4214Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12716/16005 12641/15267 4214/5088 chr8 143860613
chr8:143860680 C
C
 T
T
 2 a0082
a0209
a0082
a0209
 2 HG00323.hp1
HG03139.hp1
HG00323.hp1
HG03139.hp1
 missense_variant MODERATE c.12574G>A
c.12574G>A
 p.Ala4192Thr
p.Ala4192Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12649/16005 12574/15267 4192/5088 chr8 143860680
chr8:143860704 C
C
 T
T
 1 a0054
a0054
 1 HG01884.hp1
HG01884.hp1
 missense_variant MODERATE c.12550G>A
c.12550G>A
 p.Gly4184Arg
p.Gly4184Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12625/16005 12550/15267 4184/5088 chr8 143860704
chr8:143860743 G
G
 A
A
 1 a0172
a0172
 1 HG01496.hp2
HG01496.hp2
 missense_variant MODERATE c.12511C>T
c.12511C>T
 p.Arg4171Trp
p.Arg4171Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12586/16005 12511/15267 4171/5088 chr8 143860743
chr8:143860781 A
A
 G
G
 3 a0114
a0115
a0224
a0114
a0115
a0224
 3 HG02300.hp1
HG03130.hp1
NA20129.hp2
HG02300.hp1
HG03130.hp1
NA20129.hp2
 missense_variant MODERATE c.12473T>C
c.12473T>C
 p.Phe4158Ser
p.Phe4158Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12548/16005 12473/15267 4158/5088 chr8 143860781
chr8:143860812 T
T
 C
C
 118 a0007
a0008
a0009
others(115): Show 
a0007
a0008
a0009
a0014
a0015
a0021
a0022
a0023
a0026
a0030
a0033
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0061
a0062
a0068
a0069
a0070
a0082
a0090
a0091
a0093
a0094
a0096
a0097
a0104
a0105
a0110
a0111
a0112
a0120
a0122
a0124
a0130
a0133
a0153
a0154
a0155
a0158
a0159
a0162
a0163
a0164
a0165
a0202
a0206
a0207
a0208
a0209
a0210
a0211
a0215
a0216
a0218
a0219
a0222
a0225
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0240
a0241
a0244
a0253
a0254
a0255
a0257
a0258
a0259
a0260
a0261
a0262
a0264
a0265
a0266
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0288
a0289
a0290
a0291
a0292
a0293
a0302
a0303
a0304
a0305
 151 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(148): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp2
HG02523.hp2
HG02559.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03139.hp1
HG03195.hp1
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03471.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18945.hp2
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 missense_variant MODERATE c.12442A>G
c.12442A>G
 p.Arg4148Gly
p.Arg4148Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12517/16005 12442/15267 4148/5088 chr8 143860812
chr8:143860812 T
T
 TGCTCACG
others(1586): Show 
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCTTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCACA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC
CTTGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGC
CGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTAC
GAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCC
GCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGG
CGGCGGCGGCAGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCACGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCC
 1 a0224
a0224
 1 HG02300.hp1
HG02300.hp1
 conservative_inframe_insertion MODERATE c.12441_12442insGGGG
others(1589): Show 
c.12441_12442insGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATC
ATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGC
CTGGCGTGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACT
CGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCT
GCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGA
GGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCC
TCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAG
CACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCG
GGTCATCAAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCC
TGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGC
CCCGAGACCCTGTGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGT
GACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCG
CGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATG
AGCATCTACCAGGCCATGTGGAAAGGCGTGCTGCGGCCCGGCACGGCCCT
GGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGC
GCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGC
GGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTA
CACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGA
AGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATC
GCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGA
CGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGG
CCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAG
AACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACAC
CGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGC
TGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGC
TCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTA
CCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGG
CGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTG
GCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCG
CCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGG
GCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGC
TACGTGAGC
 p.Ser4147_Arg4148ins
others(1593): Show 
p.Ser4147_Arg4148insGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrM
etGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAsp
ValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAl
aGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuT
hrArgValIleLysGluThrGluGluArgLeuSerLysValSerPheArg
GlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLe
uGlyProGluThrLeuTrpAspLeuAlaGlnGlyThrLysThrLeuGlnG
luValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCys
IleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLy
sMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrA
laLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspPro
ValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVa
lGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrG
lyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMet
GlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGl
nIleAlaThrGlyGlyValIleAspProValHisSerHisArgValProV
alAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgVal
LeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHi
sGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProA
spThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHis
GlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPr
oGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuP
heTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyr
ArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLe
uLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerP
roArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLys
ValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSe
rGlyTyrValSer
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12516/16005 12441/15267 4147/5088 chr8 143860812
chr8:143860812 T
T
 TGCTCACG
others(6374): Show 
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGTGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTGGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC
CTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGC
CGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTAC
GAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCC
GCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGG
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCA
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACAGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTTGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCAG
CCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAG
TCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCACGCCAGGC
GTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGA
TGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCC
 2 a0029
a0132
a0029
a0132
 3 HG02809.hp2
HG02895.hp2
HG03041.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
 conservative_inframe_insertion MODERATE c.12441_12442insGGGG
others(6377): Show 
c.12441_12442insGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATC
ATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGC
CTGGCGTGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACT
CGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCT
GCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGA
GGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCC
TCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAG
CACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCG
GGTCATCAAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCC
TGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGC
CCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGT
GACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCG
CGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATG
AGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCT
GGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGC
GCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGC
GGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTA
CACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGA
AGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATC
GCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGA
CGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGG
CCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAG
AACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACAC
CGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGC
TGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGC
TCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTA
CCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGG
CGGGCACGCTGACTGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTG
GCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCG
CCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGG
GCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGC
TACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGG
GACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGG
AGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGC
GGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCG
CTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCG
CCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAG
CGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTC
CTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGG
CCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATC
GAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTG
CCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGA
CCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAG
ATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGT
CCTGGTGCCCGCCAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCT
ACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTG
CTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCT
GAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGA
TCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGAC
CCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCT
CATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGG
GCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCC
TACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCC
CAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCA
CGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTC
TACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGA
GGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCG
CCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAG
GTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCAC
GCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGG
CCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGAC
CCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCT
CCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGA
GCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTG
GACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGA
GGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGC
GGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAG
CGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CCAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCACCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
 p.Ser4147_Arg4148ins
others(6381): Show 
p.Ser4147_Arg4148insGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrM
etGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAsp
ValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAl
aGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuT
hrArgValIleLysGluThrGluGluArgLeuSerLysValSerPheArg
GlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLe
uGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnG
luValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCys
IleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLy
sMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrA
laLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspPro
ValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVa
lGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrG
lyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMet
GlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGl
nIleAlaThrGlyGlyValIleAspProValHisSerHisArgValProV
alAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgVal
LeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHi
sGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProA
spThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHis
GlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPr
oGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuP
heTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyr
ArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLe
uLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerP
roArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLys
ValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSe
rGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSerGlyS
erGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIle
GluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTr
pArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerG
lyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaG
lyValLeuValProAlaLysAspGlnProGlyHisGlnGluLysMetSer
IleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVa
lLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgA
snLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGly
GluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrTh
rAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysA
spLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAla
ThrGlyGlyValIleAspProValHisSerHisArgValProValAspVa
lAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaA
spProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsn
LeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGl
yLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuS
erGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySer
GlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrAr
gGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaG
lyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAla
GlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPr
oAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyA
rgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyr
ValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyTh
rLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluA
laGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGly
ProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSe
rGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaA
laAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGlu
ValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLe
uPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnH
isAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArg
ValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLe
uArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyP
roGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluVal
ThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAl
aGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetS
erIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeu
ValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValAr
gAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyG
lyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyr
ThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLy
sAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleA
laThrGlyGlyValIleAspProValHisSerHisArgValProValAsp
ValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAl
aAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluA
snLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThr
GlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLe
uSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlyS
erGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyr
ArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAl
aGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuA
laGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArg
ProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGl
yArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyT
yrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGly
ThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGl
uAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgG
lyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArg
SerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAl
aAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnA
rgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSer
SerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAl
aGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleG
luGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCys
GlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluTh
rLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluM
etAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVal
LeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTy
rGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuL
euGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeu
ArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIl
eGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspP
roTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeu
IleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGl
yGlyValIleAspProValHisSerHisArgValProValAspValAlaT
yrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPro
SerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuTh
rTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuT
yrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGlu
GluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAl
aLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluV
alSerGlnAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThr
LeuThrValGluGluLeuGlyThrThrLeuThrSerLeuLeuAlaGlnAl
aGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspP
roArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeu
ArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSe
r
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12516/16005 12441/15267 4147/5088 chr8 143860812
chr8:143860818 C
C
 T
T
 1 a0255
a0255
 1 HG04199.hp2
HG04199.hp2
 missense_variant MODERATE c.12436G>A
c.12436G>A
 p.Val4146Met
p.Val4146Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12511/16005 12436/15267 4146/5088 chr8 143860818
chr8:143860829 G
G
 A
A
 3 a0082
a0122
a0133
a0082
a0122
a0133
 3 HG00323.hp1
HG02717.hp2
NA18522.hp2
HG00323.hp1
HG02717.hp2
NA18522.hp2
 missense_variant MODERATE c.12425C>T
c.12425C>T
 p.Ala4142Val
p.Ala4142Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12500/16005 12425/15267 4142/5088 chr8 143860829
chr8:143860915 G
G
 T
T
 1 a0272
a0272
 1 HG03710.hp1
HG03710.hp1
 missense_variant MODERATE c.12339C>A
c.12339C>A
 p.Asp4113Glu
p.Asp4113Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12414/16005 12339/15267 4113/5088 chr8 143860915
chr8:143860988 G
G
 T
T
 1 a0233
a0233
 1 HG03710.hp2
HG03710.hp2
 missense_variant MODERATE c.12266C>A
c.12266C>A
 p.Thr4089Asn
p.Thr4089Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12341/16005 12266/15267 4089/5088 chr8 143860988
chr8:143861021 G
G
 A
A
 1 a0070
a0070
 1 HG03471.hp2
HG03471.hp2
 missense_variant MODERATE c.12233C>T
c.12233C>T
 p.Ala4078Val
p.Ala4078Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12308/16005 12233/15267 4078/5088 chr8 143861021
chr8:143861024 C
C
 T
T
 1 a0131
a0131
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.12230G>A
c.12230G>A
 p.Arg4077Gln
p.Arg4077Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12305/16005 12230/15267 4077/5088 chr8 143861024
chr8:143861076 A
A
 AGAGGAGC
others(3188): Show 
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAGGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG
CCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAG
TCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGC
GTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGA
TGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGC
CAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGA
CCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTC
CCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAC
 1 a0104
a0104
 1 NA19043.hp1
NA19043.hp1
 conservative_inframe_insertion MODERATE c.12177_12178insGTCT
others(3191): Show 
c.12177_12178insGTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGG
CCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTG
TGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCT
GCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCC
GGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCG
CAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCG
AGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCG
AGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACCTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCACCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCCACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTC
 p.Leu4059_Phe4060ins
others(3195): Show 
p.Leu4059_Phe4060insValTyrArgGluValSerGluAspArgArg
GlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLe
uGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgA
laGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArg
AlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPr
oValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluG
luLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThr
ArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaAr
gProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaG
lyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGlu
GlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLe
uArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProV
alSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArg
AspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLe
uValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerL
ysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHis
ThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyTh
rLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuG
luGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnPro
GlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLe
uArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyP
heValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaVal
AlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGl
uArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerL
euPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArg
LeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSe
rHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluG
luMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePhe
AspProAsnThrHisGluAsnLeuThrTyrLeuGlnLeuLeuArgArgCy
sValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgG
lySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAsp
AlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVa
lTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspL
euLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAla
ThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAl
aGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaT
hrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrp
AspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLe
uAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgL
euThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGln
LeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGl
yAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluT
hrGlnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGluGlnThr
LeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgPr
oValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgA
rgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAsp
LeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSe
rLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuH
isThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGly
ThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLe
uGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnP
roGlyHisGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVal
LeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGl
yPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaV
alAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAla
GluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSe
rLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleA
rgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHis
SerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGl
uGluMetAsnArgValLeuAlaHisProSerAspAspThrLysGlyPheP
heAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArg
CysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyAr
gGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgA
spAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSer
ValTrpGluLeuLeu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12252/16005 12177/15267 4059/5088 chr8 143861076
chr8:143861129 G
G
 A
A
 1 a0202
a0202
 1 NA18986.hp1
NA18986.hp1
 missense_variant MODERATE c.12125C>T
c.12125C>T
 p.Thr4042Met
p.Thr4042Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12200/16005 12125/15267 4042/5088 chr8 143861129
chr8:143861135 C
C
 T
T
 1 a0081
a0081
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.12119G>A
c.12119G>A
 p.Arg4040His
p.Arg4040His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12194/16005 12119/15267 4040/5088 chr8 143861135
chr8:143861220 C
C
 T
T
 1 a0100
a0100
 1 NA21309.hp1
NA21309.hp1
 missense_variant MODERATE c.12034G>A
c.12034G>A
 p.Gly4012Arg
p.Gly4012Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12109/16005 12034/15267 4012/5088 chr8 143861220
chr8:143861238 C
C
 T
T
 1 a0044
a0044
 2 HG01168.hp2
HG01169.hp2
HG01168.hp2
HG01169.hp2
 missense_variant MODERATE c.12016G>A
c.12016G>A
 p.Val4006Met
p.Val4006Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12091/16005 12016/15267 4006/5088 chr8 143861238
chr8:143861319 C
C
 G
G
 5 a0127
a0150
a0184
others(2): Show 
a0127
a0150
a0184
a0185
a0202
 5 HG00642.hp1
HG02074.hp2
HG06807.hp1
others(2): Show 
HG00642.hp1
HG02074.hp2
HG06807.hp1
NA18986.hp1
NA19090.hp2
 missense_variant MODERATE c.11935G>C
c.11935G>C
 p.Asp3979His
p.Asp3979His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12010/16005 11935/15267 3979/5088 chr8 143861319
chr8:143861332 G
G
 T
T
 1 a0275
a0275
 1 HG01255.hp1
HG01255.hp1
 missense_variant MODERATE c.11922C>A
c.11922C>A
 p.Asn3974Lys
p.Asn3974Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11997/16005 11922/15267 3974/5088 chr8 143861332
chr8:143861360 C
C
 CGGTAGGC
others(1587): Show 
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC
CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG
CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC
ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA
GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC
TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG
CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT
CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC
AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT
CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA
GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG
TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC
CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG
TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC
TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC
GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT
CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG
AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT
GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG
GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT
 1 a0198
a0198
 1 HG03654.hp2
HG03654.hp2
 frameshift_variant HIGH c.11893_11894insAGCG
others(1590): Show 
c.11893_11894insAGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCA
CCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGC
CAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTC
TTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAAGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGG
TGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTC
TTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCA
CGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGG
TCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTG
AGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAA
GGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCG
CCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGAC
GTGGCCTACC
 p.Arg3965fs
p.Arg3965fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11968/16005 11893/15267 3965/5088 chr8 143861360
chr8:143861360 C
C
 T
T
 8 a0024
a0056
a0057
others(5): Show 
a0024
a0056
a0057
a0058
a0059
a0060
a0103
a0117
 9 HG01192.hp1
HG02818.hp2
HG03098.hp2
others(6): Show 
HG01192.hp1
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03579.hp1
NA20300.hp2
 missense_variant MODERATE c.11894G>A
c.11894G>A
 p.Arg3965Gln
p.Arg3965Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11969/16005 11894/15267 3965/5088 chr8 143861360
chr8:143861360 CGGTAGGC
others(3188): Show 
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT
 C
C
 2 a0055
a0300
a0055
a0300
 2 HG00140.hp2
NA19030.hp2
HG00140.hp2
NA19030.hp2
 disruptive_inframe_deletion MODERATE c.8699_11893del
c.8699_11893del
 p.Gln2900_Tyr3964del
p.Gln2900_Tyr3964del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11968/16005 8699/15267 2900/5088 chr8 143861360
chr8:143861460 C
C
 T
T
 1 a0281
a0281
 1 NA18995.hp1
NA18995.hp1
 missense_variant MODERATE c.11794G>A
c.11794G>A
 p.Val3932Ile
p.Val3932Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11869/16005 11794/15267 3932/5088 chr8 143861460
chr8:143861573 C
C
 T
T
 1 a0253
a0253
 1 HG02055.hp1
HG02055.hp1
 missense_variant MODERATE c.11681G>A
c.11681G>A
 p.Gly3894Asp
p.Gly3894Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11756/16005 11681/15267 3894/5088 chr8 143861573
chr8:143861621 C
C
 T
T
 1 a0208
a0208
 1 HG03831.hp1
HG03831.hp1
 missense_variant MODERATE c.11633G>A
c.11633G>A
 p.Arg3878His
p.Arg3878His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11708/16005 11633/15267 3878/5088 chr8 143861621
chr8:143861631 C
C
 T
T
 1 a0106
a0106
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.11623G>A
c.11623G>A
 p.Asp3875Asn
p.Asp3875Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11698/16005 11623/15267 3875/5088 chr8 143861631
chr8:143861657 G
G
 A
A
 2 a0041
a0266
a0041
a0266
 3 HG00408.hp2
HG00621.hp2
NA19076.hp2
HG00408.hp2
HG00621.hp2
NA19076.hp2
 missense_variant MODERATE c.11597C>T
c.11597C>T
 p.Ala3866Val
p.Ala3866Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11672/16005 11597/15267 3866/5088 chr8 143861657
chr8:143861678 G
G
 A
A
 2 a0141
a0194
a0141
a0194
 2 HG02257.hp2
HG02258.hp1
HG02257.hp2
HG02258.hp1
 missense_variant MODERATE c.11576C>T
c.11576C>T
 p.Thr3859Met
p.Thr3859Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11651/16005 11576/15267 3859/5088 chr8 143861678
chr8:143861688 G
G
 A
A
 2 a0029
a0132
a0029
a0132
 3 HG02809.hp2
HG02895.hp2
HG03041.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
 missense_variant MODERATE c.11566C>T
c.11566C>T
 p.Arg3856Trp
p.Arg3856Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11641/16005 11566/15267 3856/5088 chr8 143861688
chr8:143861694 C
C
 CGCCCTTC
others(1595): Show 
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTC
TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC
TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT
GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC
CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAG
CAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCC
ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG
GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC
CTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGG
CGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGG
TCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGAC
GGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGT
CGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCC
CGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCA
GCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGA
AGAAACCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCC
TCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCT
GTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGC
GGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGG
GAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTC
GGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCA
CGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAG
CCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAG
CAT
 2 a0217
a0286
a0217
a0286
 2 NA18971.hp2
NA19054.hp1
NA18971.hp2
NA19054.hp1
 conservative_inframe_insertion MODERATE c.11559_11560insATGC
others(1598): Show 
c.11559_11560insATGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGG
AGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGG
CTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCA
GGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCT
ACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATC
GTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGG
CGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACC
GGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGC
GACGACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTA
CGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACA
TGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAG
CTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCT
CCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGT
CCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTG
ACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCA
GGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCC
GGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGG
GGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGG
GGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACT
TGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAG
GCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGA
GCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAG
AGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGC
 p.Gly3853_Val3854ins
others(1602): Show 
p.Gly3853_Val3854insMetLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11634/16005 11559/15267 3853/5088 chr8 143861694
chr8:143861735 C
C
 T
T
 3 a0137
a0173
a0185
a0137
a0173
a0185
 3 HG00558.hp1
NA18942.hp2
NA19090.hp2
HG00558.hp1
NA18942.hp2
NA19090.hp2
 missense_variant MODERATE c.11519G>A
c.11519G>A
 p.Arg3840His
p.Arg3840His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11594/16005 11519/15267 3840/5088 chr8 143861735
chr8:143861747 T
T
 C
C
 1 a0173
a0173
 1 NA18942.hp2
NA18942.hp2
 missense_variant MODERATE c.11507A>G
c.11507A>G
 p.Asp3836Gly
p.Asp3836Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11582/16005 11507/15267 3836/5088 chr8 143861747
chr8:143861843 C
C
 CCCTGGGC
others(9552): Show 
CCCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC
CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG
CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG
GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT
CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT
CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC
ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG
CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC
GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCACCCAGC
TCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG
CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC
TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG
GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC
CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA
GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC
TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA
GTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG
GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG
TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG
CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA
GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC
TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC
CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT
TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC
TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG
CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG
CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG
GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG
CTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA
GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC
TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC
CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT
CCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG
CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC
TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG
GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG
GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC
GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC
GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC
TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG
GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT
CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG
ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC
GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT
GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG
GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC
GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC
CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG
ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC
GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG
GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA
GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC
TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG
GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC
GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC
CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG
CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCACGCCCCCG
GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG
GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG
GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG
CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA
CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG
GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC
CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT
AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC
GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT
GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGT
AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG
CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT
GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG
GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG
ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT
CAGGTTGCGCACGGGGTCGATGATGAAGCCGGTGGCCGCCTGCGCCTCCA
GCAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG
TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCT
CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG
GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA
GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC
GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG
GCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGG
CCAGCAGCGAGGTGAGGGTGGCACCCAGCTCCTCCACGGTCAGCGTGCCC
GCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCG
GTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCG
AGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTC
AGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCC
GGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGT
TCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCG
GCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCAC
GTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGG
CGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCC
TTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGT
GTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGC
CGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTG
CGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCAC
CAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGC
TCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCC
GCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGT
CACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGG
GGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTC
AGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGAC
CCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGT
GCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAG
AGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCAC
CTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGG
CGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCC
GAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCA
GGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGA
TGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAG
CCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGA
CGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCT
TGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGG
CTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAG
CGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGT
ATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAG
AGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGG
CGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGT
GCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCC
GGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTG
CGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGA
CACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACG
GGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTG
GGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCA
TGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCG
GTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCAC
CACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGG
GGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCC
GTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTT
CTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGC
AGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCC
TGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAG
GATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGC
GGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTG
AGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGC
CAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGT
CCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATG
GTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTC
CTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGC
CGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCC
TGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGC
GGTCAGCCGGCGGGTCAGCGCGGGCCAAGTCCAGGGTCCCCGAGCCAAAC
TCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAG
CACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCT
CCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCG
GCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGT
GAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGC
TCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGC
TCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCAC
GCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGG
CGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCG
GGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTT
GGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGT
TCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACG
CGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTC
CAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCT
GGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACG
GCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCC
CGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGA
TGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCG
GGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTG
GCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGG
TGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGC
GTCTTAGTGT
 1 a0025
a0025
 1 NA19043.hp2
NA19043.hp2
 frameshift_variant&stop_gained HIGH c.11410_11411insACAC
others(9555): Show 
c.11410_11411insACACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAG
GCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGA
GCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAG
AGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGC
CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT
CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA
GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTG
GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA
GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG
CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGAC
CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT
CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG
CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG
TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA
GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG
TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG
CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG
GCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGG
AGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATC
GACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGG
CTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACA
CCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAG
CTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCA
GCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCT
GTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGC
CAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGA
CCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGG
AGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAG
GCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGC
CCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCG
CGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCC
CGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGC
GCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCG
GGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGG
CCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCA
GGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGC
AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG
CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC
CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC
CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGG
CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA
GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC
AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC
TACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGA
CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG
GCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC
ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA
GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT
CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG
ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG
CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG
TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC
GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG
CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC
GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA
GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT
GCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCG
TCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGC
CAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCT
GGGTGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGG
CCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGT
GCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCC
CGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGG
AGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACC
CGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCG
GCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCG
GGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAG
GGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCATCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGTGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGAT
GCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGT
GTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGC
TCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCC
GTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTC
CTTCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCG
GGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACG
CTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCAC
CAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCC
AGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCC
GGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCAT
CGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGG
GCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCC
GTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCA
GGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGG
AGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGC
GTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAA
CCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCA
ACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCC
GACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGC
CGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCG
TGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAG
CTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAG
CAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCA
CCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCC
GGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGA
GGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGC
TGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAG
TTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGC
CATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGG
ACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGC
GACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGA
GGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGTGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGTGGGACCTGGCCCAGG
 p.Gly3804fs
p.Gly3804fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11485/16005 11410/15267 3804/5088 chr8 143861843
chr8:143861904 C
C
 CGGACACC
others(3188): Show 
CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC
TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC
CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC
TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG
AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG
GCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCC
CCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCT
GGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGC
CCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCA
GCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCC
CGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCAC
CGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCA
GGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGG
GCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTC
CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC
GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC
TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC
ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA
GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC
AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT
GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT
AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG
TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG
CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT
GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC
AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC
CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG
CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC
CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT
GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT
TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC
AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA
GGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT
CCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG
CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC
GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT
GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC
TGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC
CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG
GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG
GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG
CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG
CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC
CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC
CCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGG
CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACG
GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC
GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT
GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC
AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG
CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA
CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG
TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG
CTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA
CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG
ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT
GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT
CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC
AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC
CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG
CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC
ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA
GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGT
 1 a0192
a0192
 1 NA19090.hp1
NA19090.hp1
 conservative_inframe_insertion MODERATE c.11349_11350insACCT
others(3191): Show 
c.11349_11350insACCTCCGAGCTGCACACGTCCGGGATCCTGGGCC
CCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTG
ACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGC
GGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGA
GCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAA
GGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCG
CCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGAC
GTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGC
CGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGA
ACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACC
GGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCT
GAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCT
CGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTAC
CGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGC
GGGCACGCTGACCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGCTGG
CCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGC
CCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGG
CCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCT
ACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGG
ACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGA
GGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCG
GCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGC
TCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTC
ATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGG
CGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCT
ACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCC
AGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCAC
GTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCT
ACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAG
GAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGC
CCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGG
TGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACG
CTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGC
CCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACC
CCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTC
CGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAG
CAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGG
ACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAG
GAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCG
GGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGC
GAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCGCC
GCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCA
GCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCT
CCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCG
GCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCAT
CGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGC
GCCAGGTGTCC
 p.Ser3783_Ala3784ins
others(3195): Show 
p.Ser3783_Ala3784insThrSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaTh
rAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluV
alGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeu
PheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHi
sAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgV
alIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeu
ArgArgGlnValSer
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11424/16005 11349/15267 3783/5088 chr8 143861904
chr8:143861916 G
G
 A
A
 11 a0025
a0063
a0110
others(8): Show 
a0025
a0063
a0110
a0111
a0112
a0119
a0124
a0143
a0144
a0151
a0161
 11 HG02572.hp1
HG02622.hp2
HG02723.hp2
others(8): Show 
HG02572.hp1
HG02622.hp2
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG03209.hp1
HG03516.hp1
HG03540.hp1
NA18612.hp1
NA19043.hp2
NA19240.hp2
 missense_variant MODERATE c.11338C>T
c.11338C>T
 p.Arg3780Cys
p.Arg3780Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11413/16005 11338/15267 3780/5088 chr8 143861916
chr8:143861916 GCCTCAGG
others(1595): Show 
GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCG
ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC
CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG
AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC
TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC
GGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC
GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC
CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG
CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG
GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG
GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG
GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG
CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA
CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG
GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC
CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT
AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC
GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT
GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGT
AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG
CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT
GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG
GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG
ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT
CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA
GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG
TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCA
 G
G
 1 a0234
a0234
 1 NA18997.hp2
NA18997.hp2
 conservative_inframe_deletion MODERATE c.9736_11337del
c.9736_11337del
 p.Cys3246_Arg3779del
p.Cys3246_Arg3779del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11412/16005 9736/15267 3246/5088 chr8 143861916
chr8:143861963 T
T
 G
G
 2 a0042
a0241
a0042
a0241
 3 HG00099.hp1
HG01099.hp1
HG03490.hp1
HG00099.hp1
HG01099.hp1
HG03490.hp1
 missense_variant MODERATE c.11291A>C
c.11291A>C
 p.Glu3764Ala
p.Glu3764Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11366/16005 11291/15267 3764/5088 chr8 143861963
chr8:143861994 C
C
 T
T
 1 a0040
a0040
 2 HG03491.hp1
HG03492.hp1
HG03491.hp1
HG03492.hp1
 missense_variant MODERATE c.11260G>A
c.11260G>A
 p.Asp3754Asn
p.Asp3754Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11335/16005 11260/15267 3754/5088 chr8 143861994
chr8:143862155 C
C
 T
T
 1 a0135
a0135
 1 HG03704.hp1
HG03704.hp1
 missense_variant MODERATE c.11099G>A
c.11099G>A
 p.Arg3700His
p.Arg3700His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11174/16005 11099/15267 3700/5088 chr8 143862155
chr8:143862159 G
G
 GGGC
GGGC
 10 a0014
a0054
a0089
others(7): Show 
a0014
a0054
a0089
a0094
a0157
a0256
a0260
a0263
a0274
a0283
 12 HG00741.hp1
HG01070.hp1
HG01071.hp2
others(9): Show 
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01168.hp1
HG01175.hp1
HG01884.hp1
HG02293.hp1
HG02735.hp2
HG04204.hp1
HG04228.hp2
NA18983.hp2
NA19011.hp2
 conservative_inframe_insertion MODERATE c.11092_11094dupGCC
c.11092_11094dupGCC
 p.Ala3698dup
p.Ala3698dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11169/16005 11094/15267 3698/5088 chr8 143862159
chr8:143862159 GGGCGGCG
others(3191): Show 
GGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG
CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC
TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG
GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG
GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC
GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC
GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC
TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG
GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT
CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG
ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC
GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT
GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG
GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC
GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC
CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG
ACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC
GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG
GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA
GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC
TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG
GCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTC
GCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCC
CGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTG
CTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCG
GAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGG
GGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGG
GCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAG
CGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACA
CCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGG
GCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTC
CTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGT
AGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTAC
GTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCT
GGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGT
AGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCG
CCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGAT
GAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGG
GGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGG
ATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCT
CAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA
GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG
TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCT
CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG
GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA
GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC
GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
 G
G
 13 a0039
a0042
a0046
others(10): Show 
a0039
a0042
a0046
a0047
a0051
a0211
a0216
a0240
a0241
a0259
a0285
a0289
a0292
 17 HG00099.hp1
HG00609.hp1
HG01099.hp1
others(14): Show 
HG00099.hp1
HG00609.hp1
HG01099.hp1
HG02155.hp1
HG02602.hp1
HG02738.hp2
HG03239.hp2
HG03490.hp1
HG03669.hp1
HG03831.hp2
HG04184.hp1
NA18963.hp2
NA18970.hp2
NA18975.hp2
NA18979.hp1
NA19074.hp2
NA19081.hp2
 conservative_inframe_deletion MODERATE c.7897_11094del
c.7897_11094del
 p.Ala2633_Ala3698del
p.Ala2633_Ala3698del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11169/16005 7897/15267 2633/5088 chr8 143862159
chr8:143862160 GGCGGCGG
others(3190): Show 
GGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
 G
G
 1 a0093
a0093
 1 HG03654.hp1
HG03654.hp1
 frameshift_variant HIGH c.7897_11093del
c.7897_11093del
 p.Ala2633fs
p.Ala2633fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11168/16005 7897/15267 2633/5088 chr8 143862160
chr8:143862162 C
C
 CGGCGGCG
others(6401): Show 
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACACTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCACAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACACGGTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGGCCGTGCCGGGCCGCAGCACGCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTGGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCCTCCTGCAGCGGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG
CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC
TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG
GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG
GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC
AGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC
GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC
TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACACTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG
GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT
CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG
ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC
GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT
GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG
GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC
GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC
CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG
ACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC
GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG
GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGGCCTCGCTC
AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA
CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC
GGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC
TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG
CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC
CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC
GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG
GGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG
CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG
GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC
CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT
CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG
TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG
GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC
AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC
TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG
CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGG
TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG
CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC
GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT
CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC
CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG
CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA
CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC
TGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCA
CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG
CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG
ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG
GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG
CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC
TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC
CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC
TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG
AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG
GCGGCGGGCGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCG
 1 a0073
a0073
 1 HG02109.hp1
HG02109.hp1
 stop_gained&conservative_inframe_insertion HIGH c.11091_11092insCGCC
others(6404): Show 
c.11091_11092insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCA
CCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGG
GACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCT
GGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCC
TCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTC
CGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGAT
CCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGC
AGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGC
TGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGA
GAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCA
CGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGAC
CCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGT
GGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCA
CCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCC
ATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGC
CCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGC
CCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGT
GTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTCGACCCCAACAC
GCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACC
CGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTG
CACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGAC
GCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCC
TCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGA
TACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTC
GCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGA
GCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTC
AAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGC
GTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATC
ATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGC
CTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACT
CGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCC
GCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCCGCCGAGACGAGCT
CCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCG
TCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCC
TTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGG
GATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGC
TGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACC
AGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCA
GGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCG
GCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATC
GACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGG
CGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCG
TCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAG
GCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGA
GGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCG
TGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAAC
CGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAA
CACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCG
ACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCC
GTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGT
GACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGTGTCTCCGTCTGGGAGC
TCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGC
AGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCAC
CTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCG
GGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAG
GTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCT
GGCGTCCGGCTACGTGAGCAGGGCTGCCCGGGAGGAGCTGCTGGCCGAGT
TTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCC
ATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGA
CGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCG
ACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAG
GCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGA
TGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCG
TGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAG
CTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGC
CGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGT
CCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCC
GGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGAC
CGCTGCAGGAGGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCCAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGCGTGCTGCGGC
CCGGCACGGCCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGTGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGTGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCC
 p.Ala3697_Ala3698ins
others(6408): Show 
p.Ala3697_Ala3698insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgArgProProProGlyAlaAspProAlaTerC
ysHisHisGlyGlyAlaAlaArgAlaValProGlyAlaAlaGlyLeuArg
ValGlyArgProLeuLeuLeuValProGluArgGlyProProArgArgAl
aProGlyProAlaArgGlyArgArgProGlyProAlaArgProArgArgA
rgProHisProGlyHisArgGlyAspGlyGlyAlaAlaGlnGlnGlyVal
LeuProArgProGluAlaProGlyValArgLeuArgAlaAlaHisValAr
gAspProGlyProArgAspProAlaGlyProGlyProGlyHisTerAspA
laAlaGlyGlyAspGlyAspGlyLeuGlyGlnAlaLeuProGlyGlyHis
GlnLeuHisArgGlyArgProGlyAlaArgGlnGlyProAlaArgProPr
oGlyGluAspGluHisLeuProGlyHisValGluGlyArgAlaAlaAlaA
rgHisGlyProGlyAlaAlaGlyGlyAlaGlyGlyHisArgLeuArgHis
ArgProArgAlaGlnProGluAlaValGlyGlyGlyGlyArgGlyArgGl
yArgGlyGlyArgArgAspProGlyGluAlaAlaValGlyArgAlaArgA
rgHisArgLeuHisArgProLeuHisArgAlaAlaAspLeuProLeuPro
GlyHisAlaGluGlyProHisArgProGlyAlaArgHisProProAlaGl
yGlyProAspArgHisGlyArgArgHisArgProArgAlaGlnProProA
rgAlaArgGlyArgGlyLeuProAlaArgLeuLeuArgArgGlyAspGlu
ProCysProGlyArgProGlnArgArgHisGlnGlyPheLeuArgProGl
nHisAlaArgGluProHisValArgAlaAlaAlaAlaProLeuArgAlaA
rgProGlyHisArgAlaLeuHisAlaAlaAlaGlyArgProGlyLeuArg
ArgAlaProAlaGluArgGlyAlaAlaLeuCysProAlaArgArgProAr
gAspAlaArgLeuGlyArgProProGlyProGluArgLeuArgLeuGlyA
laProLeuLeuProArgGlyValArgGlyProAlaProGlyProAlaGlu
GlnIleProGlyGlyHisAlaAspArgGlyGlyAlaGlyArgHisProHi
sLeuAlaAlaGlyProGlyProGlyProGlyProGlyArgGlyArgGlyA
rgGluProAlaProArgProProGlyGlyProAlaCysGlyHisHisGly
GlyGlnGlyGlyProProProGlyAlaArgGlyAlaArgValGlyArgAl
aGlyValArgLeuArgGluArgGlyArgProGlyGlyAlaAlaGlyArgV
alTrpLeuGlyAspProGlyLeuAlaArgAlaAspProProAlaAspArg
HisHisArgGlyGlyArgGlyGlyProArgGlyProAlaAlaAlaProGl
yArgLeuAlaArgProAlaGlyAlaArgAlaSerArgAlaArgGlyArgA
rgLeuGlyAlaLeuProAlaArgGlyProGlyGlyGlyArgAspProGly
GlyArgArgArgArgArgArgArgProProProGlyAlaAspProAlaTe
rCysHisHisGlyGlyAlaAlaArgAlaValProGlyAlaAlaGlyLeuA
rgValGlyArgProLeuLeuLeuValProGluArgGlyProAlaGluThr
SerSerTrpProSerThrArgProAlaProTrpAlaCysProThrSerSe
rProSerSerProGlySerSerArgArgArgArgSerGlySerAlaArgC
ysProSerAlaAlaTerGlyAlaArgCysProProProSerCysThrArg
ProGlySerTrpAlaProArgProCysGlyThrTrpProArgAlaLeuAr
gArgCysArgArgTerArgArgTrpThrArgSerSerAlaThrTrpArgA
laProAlaAlaSerArgAlaSerTrpCysProProArgThrSerProAla
AlaArgArgArgTerAlaSerThrArgProCysGlyArgAlaCysCysGl
yProAlaArgProTrpCysCysTrpArgArgArgArgProProAlaSerS
erSerThrProCysAlaThrTerGlyCysArgTrpArgArgProTrpPro
ArgAlaTrpTrpAlaAlaArgSerArgArgSerCysCysArgProSerAl
aProSerProAlaThrProThrProThrProGlySerArgSerProSerS
erArgProCysArgArgThrSerSerSerGlySerThrAlaSerAlaCys
TrpArgProArgSerProArgAlaAlaSerSerThrProCysThrAlaTh
rAlaCysProTrpThrTrpProThrGlyAlaAlaThrSerThrArgArgT
erThrValSerTrpProThrProAlaThrThrProArgAlaSerSerThr
ProThrArgThrArgThrSerArgThrCysSerCysCysAlaAlaAlaCy
sProThrArgThrProGlySerThrCysCysSerTrpGlnAlaGlyAlaP
roProCysThrSerTerAlaArgSerCysAlaValProCysAlaThrPro
AlaTerArgGlnAlaArgAlaProSerArgAlaArgValSerProSerGl
ySerSerSerSerThrAlaArgCysProArgThrGlyAlaArgThrCysT
erAlaAspThrGlyArgAlaArgTerProTrpArgSerTrpAlaProPro
SerProArgCysTrpProArgProArgProArgProGlyProArgProAr
gProGlyAlaArgAlaGlnThrProGlyArgProCysValArgProProT
rpArgSerArgTrpAlaAlaSerGlyGlyAlaArgCysProCysGlyThr
CysTrpArgProAlaThrTerAlaGlyLeuProGlyArgSerCysTrpPr
oSerLeuAlaArgGlyProTrpThrCysProArgTerProAlaGlyTerP
roProSerSerArgArgProArgArgProProGlyProGlyArgSerSer
ArgThrProGlyAlaAlaArgGlySerGlnGlyGlnProGlyGluGlyTh
rAlaThrArgGlyAlaProSerGluArgAlaArgGlyArgAlaArgProA
rgArgProProProProProProProProAlaAlaArgSerArgProCys
ValMetProProTrpArgCysSerAlaGlySerSerArgGlyGlyArgSe
rProCysGlyThrSerSerSerProArgThrTerAlaArgProAlaGluT
hrSerSerTrpProSerThrArgProAlaProTrpAlaCysProThrSer
SerProSerSerProGlySerSerArgArgArgArgSerGlySerAlaAr
gCysProSerAlaAlaTerGlyAlaArgCysProProProSerCysThrA
rgProGlySerTrpAlaProArgProCysGlyThrTrpProArgAlaLeu
ArgProLeuGlnGluGlyAspGlyAspGlyLeuGlyGlnAlaLeuProGl
yGlyHisGlnLeuHisArgGlyArgProGlyAlaArgProGlyProAlaA
rgProProGlyGluAspGluHisLeuProGlyHisValGluGlyValLeu
ArgProGlyThrAlaProGlyAlaAlaGlyGlyAlaGlyGlyHisArgLe
uArgHisArgProArgAlaGlnProGluAlaValGlyGlyGlyGlyArgG
lyArgGlyArgGlyGlyArgArgAspProGlyGluAlaAlaValGlyArg
AlaArgArgHisArgLeuThrProThrProThrProGlySerArgSerPr
oSerProGlyHisAlaGluGlyProHisArgProGlyAlaArgHisProP
roAlaGlyGlyProAspArgHisGlyArgArgHisArgProArgAlaGln
ProProArgAlaArgGlyArgGlyLeuProAlaArgLeuLeuArgArgGl
yAspAspArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuCysArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAla
GluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaTh
rMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpA
spValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeu
AlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLe
uThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnL
euGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGly
AspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluTh
rGlnGluAlaAlaAlaAlaAlaAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11166/16005 11091/15267 3697/5088 chr8 143862162
chr8:143862162 CGGCGGCG
others(2): Show 
CGGCGGCGGT
 C
C
 34 a0010
a0011
a0015
others(31): Show 
a0010
a0011
a0015
a0025
a0029
a0037
a0061
a0062
a0068
a0100
a0104
a0110
a0111
a0112
a0113
a0114
a0115
a0119
a0120
a0124
a0128
a0132
a0143
a0144
a0147
a0160
a0161
a0209
a0219
a0224
a0225
a0238
a0239
a0302
 43 HG02165.hp1
HG02280.hp1
HG02280.hp2
others(40): Show 
HG02165.hp1
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02559.hp1
HG02572.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03453.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
NA18906.hp2
NA18957.hp1
NA18971.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19080.hp1
NA19084.hp1
NA19240.hp2
NA20129.hp2
NA21309.hp1
 conservative_inframe_deletion MODERATE c.11083_11091delACCG
others(5): Show 
c.11083_11091delACCGCCGCC
 p.Thr3695_Ala3697del
p.Thr3695_Ala3697del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11166/16005 11083/15267 3695/5088 chr8 143862162
chr8:143862168 C
C
 CGGCGGCC
others(4763): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCG
CTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCG
 1 a0097
a0097
 1 HG02258.hp2
HG02258.hp2
 conservative_inframe_insertion MODERATE c.11085_11086insCGCC
others(4766): Show 
c.11085_11086insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGATGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
 p.Thr3695_Ala3696ins
others(4770): Show 
p.Thr3695_Ala3696insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuHisAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11160/16005 11085/15267 3695/5088 chr8 143862168
chr8:143862168 C
C
 CGGCGGCC
others(19118): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCG
GCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGA
GTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGG
CGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATG
ATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCC
AAACTCGGCCAGCAGCTCCTCCCGGGCAGCCCTGCTCACGTAGCCGGACG
CCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTG
ACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCT
CCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCG
AGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTAT
CTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAG
GAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCG
TCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGC
ACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGG
GTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCG
TGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACA
CGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGG
CACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGG
CCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATG
GCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGT
GACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCA
CGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGG
TCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGT
GCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCT
CCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAG
CTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTG
CAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGA
TCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGG
AAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAG
GACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCA
GGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCC
CACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGT
GGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCT
GGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCG
TCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTG
GAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGG
TCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCG
GCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCAC
GTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCA
TGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCC
TCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAG
GGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCA
GCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCC
CAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCG
GGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGG
AGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGC
ACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGG
GTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCA
TCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGG
TGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAG
CAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGA
AGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCG
CGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGC
GGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGA
CGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGC
CGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCG
GCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGC
CCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTC
TTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGA
CGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACA
CCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCG
ACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTC
GTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGG
AGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCA
CGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTTGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTTACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCATCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTTGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCG
GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC
CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC
AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG
ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA
GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG
ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC
TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG
GCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGG
ACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCA
CCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACG
GGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGC
CGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCT
TCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATG
CAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTC
CTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCA
GGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCG
CGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGT
GAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGG
CCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACG
TCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCAT
GGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCT
CCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCG
CCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTC
CTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGG
CGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAAC
TCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAG
CACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCT
CCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCG
GCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGT
GAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGC
TCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGC
TCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCAC
GCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGG
CGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCG
GGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTT
GGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGT
TCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCACGGGCACG
CGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTC
CAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCT
GGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACG
GCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCC
CGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGA
TGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCG
GGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTG
GCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGG
TGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGC
GTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCC
GGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGG
ACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACG
GCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAG
CTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACA
CGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCA
TCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0121
a0121
 1 HG02630.hp1
HG02630.hp1
 conservative_inframe_insertion MODERATE c.11085_11086insCGCC
others(19121): Show 
c.11085_11086insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCA
CCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAG
GTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCT
CTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGC
ACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGG
GTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCT
GAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCC
CCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTG
ACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGC
GGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGA
GCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAA
GGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCG
CCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGAC
GTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGC
CGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGA
ACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACC
GGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCT
GAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCT
CGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTAC
CGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGC
GGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGG
CCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGC
CCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGG
CCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCT
ACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGG
ACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGA
GGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCG
GCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGC
TCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTC
ATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGG
CGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCT
ACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCC
AGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCAC
GTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCT
ACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAG
GAGCTGCGCTGTGCCCTGCGCAACGCCCGCGTGACGCCAGGCTCGGGCGC
CCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGG
TGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACG
CTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGC
CCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACC
CCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTC
CGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAG
CGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGG
ACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAG
GAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCG
GGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGC
GAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGC
CGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCA
GTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACC
TGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCC
CTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGAC
GGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGT
CCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGG
GACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTC
GGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGC
CCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCC
ATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGC
GCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGT
CGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAG
AAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACAC
CGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCC
GGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTC
ATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCG
CGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACG
ACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTG
CAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCT
GCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGC
GCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAG
GGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGA
GGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCG
TGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCC
CAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGA
GGCCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGC
GCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCC
GCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCC
CGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCC
CCGGGGCCCGGCCGCAGCTCCAGGATGCCTGGCGCGGCCCGCGGGAGCCA
GGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGG
CCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCGGCCGAGCGCGCCGTAACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
CCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGA
GCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGAC
CCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGC
CGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGC
CGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGA
CCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCA
GCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTG
CACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGG
CACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACC
TGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAG
CCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGT
GCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCG
GCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCC
GTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGC
CGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCT
CCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATC
CGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCA
CAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACG
AGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTC
TTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCG
CTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCC
GGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGC
GACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTC
CGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGG
ACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGC
GCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGA
GGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCATGCGG
CCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTG
TGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCT
GCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCC
GGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCG
CAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCG
AGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCG
AGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCAAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCA
CCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGG
GACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCT
GGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCC
TCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTC
CGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGAT
CCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGC
AGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGC
TGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGA
GAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCA
CGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGAC
CCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGT
GGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCA
CCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCC
ATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGC
CCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGC
CCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGT
GTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACAC
GCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACC
CGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTG
CACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGAC
GCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCC
TCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGA
TACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTC
GCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGA
GCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTC
AAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGC
GTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATC
ATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGC
CTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACT
CGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCC
GCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGA
GGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCC
TCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAG
CACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCG
GGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCC
TGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGC
CCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGT
GACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCG
CGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATG
AGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCT
GGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGC
GCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGC
GGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTA
CACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGA
AGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATC
GCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGA
CGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGG
CCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAG
AACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACAC
CGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGC
TGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGC
TCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTA
CCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGG
CGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTG
GCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCG
CCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGG
GCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGC
TACGTGAGCAGGGCTGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGG
GACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGG
AGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGC
GGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCG
CTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCG
CCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCACCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCCACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTATATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGATGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
 p.Thr3695_Ala3696ins
others(19125): Show 
p.Thr3695_Ala3696insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaThrAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAsnAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgG
lyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSer
TyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGl
yAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluG
luThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGln
ValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLe
uArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetA
spSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeu
ValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGl
nAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuG
luAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArg
LeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGl
nGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProT
yrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIle
ValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGl
yValIleAspProValHisSerHisArgValProValAspValAlaTyrA
rgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSer
AspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTy
rValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrM
etLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGlu
LeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLe
uGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValS
erGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeu
ThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGl
nAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProA
rgGluAlaLeuHisAlaAlaThrMetGluValLysValGlyArgLeuArg
GlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerAr
gAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspL
euProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGlu
AlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGl
uProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgG
luGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AspProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl
aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA
laValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAla
ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl
aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG
lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly
ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl
nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluG
lnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGly
ArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAl
aArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuP
roAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArg
LeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGl
uLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaG
lnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArg
TyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAs
pGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysG
lyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAla
ThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGl
uAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuS
erAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGln
IleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGl
yIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProV
alHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPhe
AspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGl
yPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuA
rgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAla
GlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLe
uArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerV
alSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArg
GlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLe
uGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgA
laGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuHis
AlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValPr
oValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluG
luLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThr
ArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaAr
gProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaG
lyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGlu
GlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLe
uArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProV
alSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArg
AspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLe
uValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerL
ysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHis
ThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyTh
rLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuG
luGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnPro
GlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLe
uArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyP
heValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaVal
AlaAlaGlyValValGlyGlyLysIleGlnGluLysLeuLeuSerAlaGl
uArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerL
euPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArg
LeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSe
rHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluG
luMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePhe
AspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCy
sValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgG
lySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAsp
AlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVa
lTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspL
euLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAla
ThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAl
aGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaT
hrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrp
AspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLe
uAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgL
euThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGln
LeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGl
yAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluT
hrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAsp
AlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerVa
lTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluL
euLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAla
ValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSe
rPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerG
lyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThr
LeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyTh
rSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgG
lnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgPro
GlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIl
eAspProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaG
lyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAla
ValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGl
nAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuG
luAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArg
ValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAs
nArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProA
snThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValPro
AspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAl
aValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgV
alThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGlu
LeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSe
rArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuT
hrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrM
etGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAsp
ValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAl
aGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuT
hrArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArg
GlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLe
uGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnG
luValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCys
IleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLy
sMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrA
laLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspPro
ValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVa
lGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrG
lyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMet
GlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGl
nIleAlaThrGlyGlyValIleAspProValHisSerHisArgValProV
alAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgVal
LeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHi
sGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProA
spThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHis
GlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPr
oGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuP
heTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyr
ArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLe
uLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerP
roArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLys
ValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSe
rGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlyS
erGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIle
GluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTr
pArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerG
lyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAla
AlaAlaThrAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaTh
rMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpA
spValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeu
AlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLe
uThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPheA
rgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIle
LeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGl
nGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerC
ysIleAlaGlyValLeuValProAlaLysAspGlnProGlyHisGlnGlu
LysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyTh
rAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspP
roValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVal
ValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValTh
rGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaM
etGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAla
GlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValPr
oValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgV
alLeuAlaHisProSerAspAspThrLysGlyPhePheAspProAsnThr
HisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspPr
oAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValH
isGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThr
ProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLe
uPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgT
yrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSer
LeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySe
rProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValL
ysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAla
SerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGl
ySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleI
leGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAla
TrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSe
rGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaA
laAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGlu
ValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLe
uPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnH
isAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArg
ValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLe
uArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyP
roGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluVal
ThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAl
aGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetS
erIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeu
ValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValAr
gAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyG
lyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyr
ThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLy
sAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleA
laThrGlyGlyValIleAspProValHisSerHisArgValProValAsp
ValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAl
aAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluA
snLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThr
GlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLe
uSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlyS
erGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyr
ArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAl
aGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuA
laGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArg
ProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGl
yArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyT
yrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGly
ThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGl
uAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgG
lyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArg
SerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11160/16005 11085/15267 3695/5088 chr8 143862168
chr8:143862168 C
C
 CGGCGGCC
others(7949): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTTACGGCGCG
CTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGC
CCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGC
CCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCATCCTGGAGCTGCGG
CCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGC
GGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGC
TCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACAC
GGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCG
CATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCG
GCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCC
CAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCT
GGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAG
ACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCG
CAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGC
CTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGG
CGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAA
GCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGT
CGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGC
ACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGAT
GCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGA
TCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCC
GACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGC
CTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGG
TGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACG
CCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTG
GTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGT
AGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCC
TGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAG
CTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGA
GCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCG
GGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCG
GGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCC
GCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTC
TGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGATCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG
GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG
CCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC
TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG
GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT
GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCA
CAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAG
CTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCA
GCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTG
GTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTA
GCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGT
CGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGC
TCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTG
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCG
 1 a0123
a0123
 1 NA18906.hp1
NA18906.hp1
 conservative_inframe_insertion MODERATE c.11085_11086insCGCC
others(7952): Show 
c.11085_11086insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGATCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGATGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTAACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCG
GTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAA
GCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCG
GGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGG
GAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCAT
CGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCG
GCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGAC
ACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCA
GCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGC
AGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGC
TGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGG
CCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGG
ACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTG
GAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCA
GGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGG
CCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGC
GCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGC
CCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCG
CGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCC
GGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGG
GCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCC
AGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAG
CAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGG
GCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGG
CCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTG
CCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCG
GCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCG
AGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCC
CAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCG
CTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGG
ACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAG
GGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGC
CACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGG
AGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTG
TCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCA
GATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACG
GCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCC
GTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTT
CGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGATGACACCAAGG
GCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTG
CGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGC
AGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCC
TGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGC
GTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCG
CCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGC
TGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGG
GCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCC
 p.Thr3695_Ala3696ins
others(7956): Show 
p.Thr3695_Ala3696insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuHisAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11160/16005 11085/15267 3695/5088 chr8 143862168
chr8:143862168 C
C
 CGGCGGCC
others(9542): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCG
CTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGC
CCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGC
CCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGG
CCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGC
GGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGC
TCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACAC
GGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCG
CACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCG
GCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCC
CAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCT
GGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAG
ACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCG
CAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGC
CTGCCAGGTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGG
CGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAA
GCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGT
CGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGC
ACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGAT
GCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGA
TCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTTACGGCGCGCTCGGCC
GACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGC
CTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGG
TGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACG
CCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTG
GTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGT
AGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCC
TGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAG
CTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGA
GCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCG
GGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCG
GGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCC
GCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTC
TGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCATCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAG
GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG
CCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC
TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG
GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT
GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCA
CAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAG
CTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCA
GCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTG
GTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTA
GCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGT
CGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGC
TCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTG
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0070
a0070
 1 HG03471.hp2
HG03471.hp2
 conservative_inframe_insertion MODERATE c.11085_11086insCGCC
others(9545): Show 
c.11085_11086insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGATGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTAACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCACCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCG
GTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAA
GCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCG
GGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGG
GAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCAT
CGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCG
GCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGAC
ACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCA
GCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGC
AGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGC
TGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGG
CCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGG
ACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTG
GAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCA
GGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGG
CCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGC
GCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGC
CCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCG
CGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCC
GGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGG
GCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCC
AGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAG
CAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGG
GCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGG
CCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTG
CCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCG
GCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCG
AGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCC
CAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCG
CTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGG
ACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAG
GGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGC
CACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGG
AGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTG
TCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCA
GATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACG
GCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCC
GTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTT
CGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGG
GCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTG
CGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGC
AGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCC
TGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGC
GTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCG
CCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGC
TGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGG
GCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGATGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCC
 p.Thr3695_Ala3696ins
others(9549): Show 
p.Thr3695_Ala3696insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuHisAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuHisLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGln
ThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyAr
gProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaA
rgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPro
AspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLe
uSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluL
euHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGln
GlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTy
rLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspG
lnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGly
ValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaTh
rGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluA
laValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSer
AlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIl
eSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyI
leArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVal
HisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAs
pGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyP
hePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArg
ArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGl
yArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuA
rgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVal
SerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGl
nAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuG
lyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAla
GluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAl
aAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProV
alTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGlu
LeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrAr
gArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgP
roGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGly
ArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGl
yGluThrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11160/16005 11085/15267 3695/5088 chr8 143862168
chr8:143862168 C
C
 CGGCGGCC
others(9542): Show 
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAA
ACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCC
AGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGAC
CTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCC
CGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAG
GTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCT
GCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGA
GCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTC
ACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCAC
GGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGT
CGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTG
TTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACG
GTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCA
CGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCC
TCCAGCAGGCGGATGCCGTGCTCCCGGACTATGAGGTCCTTCTGCATGGC
CTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGA
CGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACG
CCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTC
GATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGC
CGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCC
TGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCT
GGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCA
GCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATC
CCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAA
GGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGA
CGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGG
AGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCA
CACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGG
CATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCATGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCG
CTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGC
CCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGC
CCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGG
CCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGC
GGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGC
TCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACAC
GGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCG
CACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCG
GCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCC
CAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCT
GGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAG
ACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCG
CAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGC
CTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGG
CGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAA
GCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGT
CGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGC
ACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGAT
GCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGA
TCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTTACGGCGCGCTCGGCC
GACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGC
CTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGG
TGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACG
CCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTG
GTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGT
AGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCC
TGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAG
CTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGA
GCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCG
GGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCG
GGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCC
GCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTC
TGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCATCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAG
GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG
CCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC
TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG
GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT
GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCA
CAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAG
CTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCA
GCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTG
GTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTA
GCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGT
CGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGC
TCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTG
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0069
a0069
 1 HG03225.hp1
HG03225.hp1
 conservative_inframe_insertion MODERATE c.11085_11086insCGCC
others(9545): Show 
c.11085_11086insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCG
GCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATG
CAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCA
GATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCT
CGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATC
GAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTG
GCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGG
GGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGATGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTAACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCG
CCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGT
TCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTG
AGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCT
GGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGG
AGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCC
GCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGA
CCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGG
TCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCC
GCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCAT
GTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGC
AGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCG
GTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAA
GCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCG
GGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGG
GAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCAT
CGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCG
GCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGAC
ACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCA
GCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGC
AGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGC
TGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGG
CCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGG
ACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTG
GAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCA
GGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGG
CCCTGCATGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGC
GCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGC
CCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCG
CGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCC
GGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGG
GCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCC
AGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAG
CAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGG
GCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGG
CCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTG
CCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCG
GCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCG
AGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCC
CAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCG
CTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGG
ACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAG
GGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGC
CACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGG
AGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTG
TCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCA
GATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATAGTCCGGGAGCACG
GCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCC
GTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTT
CGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGG
GCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTG
CGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGC
AGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCC
TGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGC
GTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCG
CCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGC
TGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGG
GCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCG
TGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGC
CCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAG
GAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGAC
CCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCC
GGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCC
GGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGA
GGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCC
TGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCG
GTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCG
AGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACC
TCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGC
AAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCA
CACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCA
CTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTG
GAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCC
CGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGC
TGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGC
TTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGT
GGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCG
AGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCC
CTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCG
CCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACA
GCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAG
GAGATGAACCGTGTCCTGGCCGACCCCAGCGATGACACCAAGGGCTTCTT
CGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCT
GCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGG
GGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGA
CGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCG
TCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGAC
CTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGC
CACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGG
CCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCC
ACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTG
GGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGC
TGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGG
CTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCA
GCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAG
GGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAG
ACCCAGGAGGCCGCC
 p.Thr3695_Ala3696ins
others(9549): Show 
p.Thr3695_Ala3696insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuHisAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGln
ThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyAr
gProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaA
rgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPro
AspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLe
uSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluL
euHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGln
GlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTy
rLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspG
lnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGly
ValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaTh
rGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluA
laValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSer
AlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIl
eSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyI
leArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVal
HisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAs
pGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyP
hePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArg
ArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGl
yArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuA
rgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVal
SerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGl
nAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuG
lyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAla
GluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAl
aAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProV
alTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGlu
LeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrAr
gArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgP
roGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGly
ArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGl
yGluThrGlnGluAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11160/16005 11085/15267 3695/5088 chr8 143862168
chr8:143862168 C
C
 T
T
 1 a0183
a0183
 1 NA19058.hp2
NA19058.hp2
 missense_variant MODERATE c.11086G>A
c.11086G>A
 p.Ala3696Thr
p.Ala3696Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11161/16005 11086/15267 3696/5088 chr8 143862168
chr8:143862171 T
T
 C
C
 124 a0007
a0008
a0009
others(121): Show 
a0007
a0008
a0009
a0014
a0021
a0022
a0023
a0024
a0026
a0030
a0033
a0034
a0038
a0040
a0041
a0043
a0044
a0045
a0049
a0053
a0054
a0056
a0057
a0058
a0059
a0060
a0063
a0065
a0066
a0069
a0070
a0072
a0073
a0074
a0089
a0090
a0091
a0094
a0095
a0096
a0097
a0098
a0102
a0103
a0105
a0106
a0107
a0108
a0109
a0116
a0117
a0121
a0123
a0130
a0145
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0162
a0163
a0164
a0165
a0184
a0197
a0198
a0202
a0206
a0207
a0208
a0210
a0215
a0217
a0218
a0222
a0230
a0232
a0233
a0235
a0236
a0244
a0253
a0254
a0255
a0256
a0257
a0258
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0286
a0287
a0288
a0290
a0291
a0293
a0294
a0295
a0296
a0303
a0304
a0305
a0306
 152 HG00099.hp2
HG00323.hp2
HG00408.hp2
others(149): Show 
HG00099.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02074.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp2
HG02258.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp2
HG02630.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02965.hp2
HG03017.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18968.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 missense_variant MODERATE c.11083A>G
c.11083A>G
 p.Thr3695Ala
p.Thr3695Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11158/16005 11083/15267 3695/5088 chr8 143862171
chr8:143862171 TGGCGGCG
others(2): Show 
TGGCGGCGGC
 T
T
 3 a0075
a0078
a0079
a0075
a0078
a0079
 3 NA18972.hp1
NA18974.hp1
NA19084.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 conservative_inframe_deletion MODERATE c.11074_11082delGCCG
others(5): Show 
c.11074_11082delGCCGCCGCC
 p.Ala3692_Ala3694del
p.Ala3692_Ala3694del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11157/16005 11074/15267 3692/5088 chr8 143862171
chr8:143862171 TGGCGGCG
others(1586): Show 
TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
 T
T
 1 a0195
a0195
 1 NA19074.hp1
NA19074.hp1
 conservative_inframe_deletion MODERATE c.9490_11082del
c.9490_11082del
 p.Ala3164_Ala3694del
p.Ala3164_Ala3694del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11157/16005 9490/15267 3164/5088 chr8 143862171
chr8:143862171 TGGCGGCG
others(3194): Show 
TGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCG
GC
 T
T
 2 a0006
a0204
a0006
a0204
 5 HG01257.hp2
HG01258.hp1
NA18947.hp2
others(2): Show 
HG01257.hp2
HG01258.hp1
NA18947.hp2
NA18952.hp1
NA19012.hp2
 conservative_inframe_deletion MODERATE c.7882_11082del
c.7882_11082del
 p.Ala2628_Ala3694del
p.Ala2628_Ala3694del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11157/16005 7882/15267 2628/5088 chr8 143862171
chr8:143862200 T
T
 TCCCCCTG
others(3199): Show 
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA
GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT
GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG
CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC
CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG
AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC
GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC
CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC
TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA
CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT
CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG
GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC
CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT
CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG
CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTG
GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT
CGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGC
CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG
CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG
CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC
CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG
CTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGC
CCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGC
CCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGG
CCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGC
GGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGC
TCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACAC
GGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCG
CACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCG
GCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCC
CAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCT
GGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAG
ACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCG
CAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGC
CTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGG
CGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAA
GCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGT
CGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGC
ACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGAT
GCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGA
TCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCC
GACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGC
CTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGG
TGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACG
CCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTG
GTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGT
AGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCC
TGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAG
CTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGA
GCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCG
GGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCG
GGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCC
GCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTC
TGCTCCTGGCGGCGGGCGGCGGCGGGTGGCGGCGGCGGCCTCCTGGGTCT
CGCCCTC
 1 a0086
a0086
 1 HG04199.hp1
HG04199.hp1
 frameshift_variant&stop_gained HIGH c.11053_11054insGAGG
others(3202): Show 
c.11053_11054insGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCA
CCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAG
GTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCT
CTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGC
ACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGG
GTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCT
GAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCC
CCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTG
ACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGC
GGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGA
GCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAA
GGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCG
CCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGAC
GTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGC
CGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGA
ACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACC
GGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCT
GAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCT
CGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTAC
CGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGC
GGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGG
CCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGC
CCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGG
CCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCT
ACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGG
ACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGA
GGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCG
GCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGC
TCCCAGCGAGAGGGCCAGGGGG
 p.Glu3685fs
p.Glu3685fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11128/16005 11053/15267 3685/5088 chr8 143862200
chr8:143862282 C
C
 T
T
 3 a0075
a0078
a0079
a0075
a0078
a0079
 3 NA18972.hp1
NA18974.hp1
NA19084.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 missense_variant MODERATE c.10972G>A
c.10972G>A
 p.Ala3658Thr
p.Ala3658Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11047/16005 10972/15267 3658/5088 chr8 143862282
chr8:143862296 G
G
 GGCCGGGC
others(25517): Show 
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTC
CTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGG
AGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCG
CGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCG
GCCTGCCAGCTGCAGCATATAGAGCCCGGTGTCCGGGTCGGGCACGCAGC
GGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAG
AAGCCCTTGGTGTCGTCGCTGGGGTGGGCCAGGACACGGTTCATCTCCTC
GTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACACGGTGGCTGT
GCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGG
ATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGA
GATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGG
CCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACG
GCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCC
GGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCA
CGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGTGGCCGGGC
TGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAG
GTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGC
CCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGC
AGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCT
GAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGT
CGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGG
CGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGG
CCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGG
TCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGTC
TCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCC
TCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCT
GCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGC
CGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAG
CAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCC
ACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTG
GCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGC
CTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGG
CGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGG
TCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGAC
GGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGT
CGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCC
CGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCA
GCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGA
AGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCC
TCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCT
GTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGC
GGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGG
GAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTC
GGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCA
CGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAG
CCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAG
CACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGG
GCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCC
AGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGT
GCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGT
GCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTG
CTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAG
GTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTC
GGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACC
GGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAG
GGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCACGGGCTCCCGGCCTCGGCCTCGGCC
CAGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACG
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTG
GCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCC
CTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCG
GGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGC
GGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGG
CGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCG
CGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGC
CTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCT
GGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCC
ACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTC
CTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGC
CCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCACGCAGGGCACAG
CGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTG
CAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCT
GCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTG
TCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCC
GCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGA
TGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCC
CGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCC
GGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCT
TCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACC
GACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTG
CGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACA
TGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCG
GGCACCAGGACGCCCACGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAC
CGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGT
CCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCG
GACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTC
CGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCA
GGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTC
AGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAA
CTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGC
GGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT
CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC
CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT
CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG
TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCC
GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC
GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG
GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC
TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGG
AGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGG
CCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGC
CTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGG
TCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACG
TAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCG
GCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTG
GGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGG
GCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCC
CGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGC
GGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCC
GAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCT
CAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCC
CGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGG
TTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTC
GGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCA
CGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTG
GTGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTC
CTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGG
TGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCG
CCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTT
GCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCA
CCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATG
CTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCC
CGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCG
TCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCG
GGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCT
CAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGA
CCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCG
TGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAA
GAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCA
CCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCG
GCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCC
CGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCC
AGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCG
ATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGA
GCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGG
ACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACC
TTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGG
GCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGG
ACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCA
CCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACG
GGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGC
CGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCT
TCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATG
CAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTC
CTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCA
GGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCG
CGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGT
GAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGG
CCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACG
TCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCAT
GGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCT
CCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCG
CCGTCCCCTCGCCCGGCTGGCGCTGGCTCCCGCGGGCCGCGCCAGGCGTC
CTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGG
CGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAAC
TCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAG
CACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCT
CCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCACGGGCTCCCG
GCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGT
GAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGC
TCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGC
TCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCAC
GCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGG
CGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCG
GGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTT
GGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGT
TCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACG
CGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTC
CAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCT
GGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACG
GCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCC
CGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGA
TGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCG
GGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTG
GCGGCCGGGCTGTTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGG
TGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGC
GTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCC
GGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGG
ACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACG
GCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAG
CTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACA
CGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCA
TCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGT
CTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCC
CTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGC
TGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAG
CCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCA
GCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCC
CACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGT
GGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGG
CCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTG
GCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAG
GTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGA
CGGAGACGCTCTGGCCCTGGAGGGCACCCGAGCCTGGCGTCACGCGGGCG
TCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCC
CCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGC
AGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCG
AAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTC
CTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGC
TGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGG
CGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAG
GGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCT
CGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCC
ACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAA
GCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCA
GCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCG
GGCTGGTCCTTGGCGGGCACCAGGACGCCCACGATGCAGCTGGTGCCCTC
CAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAG
TGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTG
TGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTT
GCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGA
GGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCT
CGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGAC
CGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCA
GGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA
GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT
GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG
CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC
CCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG
AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC
GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC
CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC
TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA
CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT
CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG
GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC
CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT
CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG
CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCGTG
GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT
CGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGC
CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG
CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG
CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC
CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG
CTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT
GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC
CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC
GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG
CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG
GCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACATGGGCACCGC
GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG
CCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCC
TGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTC
CACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGT
CCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGG
CCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACA
GCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCT
GCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGC
TGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGT
GTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGC
CGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCG
ATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTC
CCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCC
CGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGC
TTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCAC
CGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCT
GCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCAC
ATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGC
GGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGA
CCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGG
TCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGC
GGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCT
CCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCC
AGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCT
CAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGA
ACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGG
CGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTC
TCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCT
CCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCC
TCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAA
GTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCC
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC
CTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGC
CGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTAC
GAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCC
GCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGG
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGTGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGTCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGTGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACAGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACACAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
GGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGG
AGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGG
CCGCGCCAGGCGTCCTGGAGCTGCA
 1 a0100
a0100
 1 NA21309.hp1
NA21309.hp1
 conservative_inframe_insertion MODERATE c.10957_10958insTGCA
others(25520): Show 
c.10957_10958insTGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGA
GCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAG
AGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGTGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCC
TGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTAC
CAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCT
GGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGA
GGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATC
CAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCC
CTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCA
TCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGC
GGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTA
CCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCA
GCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACG
TACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTA
CATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGG
AGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCC
CTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGT
GTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGC
TGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCC
CAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCC
CCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCC
GGGGGCGCGCGGTGCCTGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGC
AGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGA
CTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGG
AGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACACCTGGCGCGGCCCGCGG
GAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGACGCTCCCAGCG
AGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCG
CCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAG
CGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTC
CTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGG
CCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATC
GAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCG
CCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGA
CCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAG
ATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGT
CCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCT
ACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTG
CTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCT
GAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGA
TCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGAC
CCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCT
CATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGG
GCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCC
TACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCC
CAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCA
CGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTC
TACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGA
GGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCG
CCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAG
GTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCAC
GCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGG
CCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGAC
CCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCT
CCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGA
GCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTG
GACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGA
GGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGC
GGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAG
CGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC
AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC
CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG
CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG
GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG
GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGC
CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC
TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC
AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC
CAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGT
GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG
GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT
GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC
TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGG
CAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA
GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG
ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC
TACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACAC
CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC
TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG
CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG
TGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCC
AGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGAC
CGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGA
GGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGG
CCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCC
CTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGC
GGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCC
GGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCG
CTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGG
GGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGC
CAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAG
GGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCA
GACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGC
GGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCC
CGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCC
CGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGC
TCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAG
CTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCA
GGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCT
ACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGAC
CAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGG
CGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCA
CCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAG
GCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTC
GGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGA
TCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGC
ATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGT
GCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCG
ACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGC
TTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCG
CCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAG
GCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTG
CGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGT
CTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCC
AGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTG
GGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGC
CGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTG
CGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCC
ATGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGA
GCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCC
GCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGG
CCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGG
GCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGG
GCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTG
CGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGT
CTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAG
ACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTC
GTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAA
GGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACA
CGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCACGGCACT
AAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGA
GGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCG
GCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTG
CGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTT
CGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGG
CCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAG
CGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCT
CTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCC
TGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGC
CACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGA
GATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCG
ACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGC
GTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGG
CTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACG
CCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTC
TGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCT
GCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCA
CCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCC
GAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCAC
CATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGG
ACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTG
GCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCT
GACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGC
TCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGG
GACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGAC
CCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATG
CCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTG
TGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCT
CCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCG
TCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCC
TTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGG
GATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGC
TGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACC
AGCTGCATCGTGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCA
GGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCG
GCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATC
GACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGG
CGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCG
TCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAG
GCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGA
GGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCG
TGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAAC
CGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAA
CACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCG
ACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCC
GTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGT
GACGCCAGGCTCGGGTGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGC
TCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGC
AGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCAC
CTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCG
GGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAG
GTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCT
GGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGT
TTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCC
ATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGA
CGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCG
ACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAG
GCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCAT
GGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACG
TCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCC
CAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCAC
CCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCG
GCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTG
GGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGA
GGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCA
TCGCGGGCGTCCTGGTGCCCGCCAAGGAACAGCCCGGCCGCCAGGAGAAG
ATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGC
CCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCG
TGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTG
GGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGG
CTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGC
AGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAG
ATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGT
GGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCC
TGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCAC
GAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGA
CACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACC
AGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCA
GGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTT
CTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACC
GGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTG
CTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCC
GTGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGG
TGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCC
GGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTC
GGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCG
AGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGG
CGCGGCCCGCGGGAGCCAGCGCCAGCCGGGCGAGGGGACGGCGACTCGGG
GCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCG
CCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTG
CAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTT
CTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACG
CGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTC
ATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAG
GCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCG
AGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACG
GAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGG
CGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCA
TCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTG
CTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAA
CCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCG
AGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACC
GACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCA
GACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCG
CCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACG
TGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACC
CTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGC
CGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCC
CGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCC
CAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGC
CCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCG
GGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCG
TACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGG
CGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGG
AGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAG
GTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCT
GCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGG
ACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTG
GTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCA
GGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGG
AGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGG
CTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCA
GGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCT
ACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATC
GTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCACCACGGGCGG
CGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACC
GGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGC
GACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTA
CGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACA
TGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAG
CTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCT
CCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGT
CCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTG
ACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCA
GGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCC
GGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGG
GGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAG
GGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACT
TGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAG
GCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGA
GCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAG
AGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGC
CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT
CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA
GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTG
GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA
GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG
CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGAC
CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT
CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG
CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG
TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA
GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG
TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG
CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG
GCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGG
AGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATC
GACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGG
CTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACA
CCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAG
CTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCA
GCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCT
GTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGC
CAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGA
CCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGG
AGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAG
GCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGC
CCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCG
CGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCC
CGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGC
GCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCG
GGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGG
CCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCA
GGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGC
AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG
CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC
CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC
CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGG
CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA
GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC
AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC
TACCTGGAGGGCACCAGCTGCATCGTGGGCGTCCTGGTGCCCGCCAAGGA
CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG
GCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC
ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA
GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT
CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG
ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG
CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG
TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC
GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG
CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC
GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA
GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT
GCGTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCG
TCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGC
CAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCT
GGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGG
CCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGT
GCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCC
CGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGG
AGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACC
CGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCG
GCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCG
GGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAG
GGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCTGGGCCGAGGC
CGAGGCCGGGAGCCCGTGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGAT
GCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGT
GTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGC
TCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCC
GTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTC
CTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCG
GGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACG
CTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCAC
CAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCC
AGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCC
GGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCAT
CGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGG
GCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCC
GTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCA
GGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGG
AGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGC
GTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAA
CCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCA
ACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCC
GACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGC
CGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCG
TGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAG
CTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAG
CAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCA
CCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCC
GGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGA
GGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGC
TGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAG
TTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGC
CATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGG
ACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGC
GACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGA
GGCCGCCGCCGCCACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCA
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GTGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCCACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTATATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGC
 p.Arg3652_Pro3653ins
others(25524): Show 
p.Arg3652_Pro3653insLeuGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuCysAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspThrTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAl
aAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluV
alGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeu
PheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHi
sAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgV
alIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeu
ArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPr
oGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValT
hrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAla
GlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSe
rIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuV
alLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArg
AsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGl
yGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrT
hrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLys
AspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAl
aThrGlyGlyValIleAspProValHisSerHisArgValProValAspV
alAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAla
AspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAs
nLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrG
lyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeu
SerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySe
rGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrA
rgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAla
GlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAl
aGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgP
roAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGly
ArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTy
rValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyT
hrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGlu
AlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGl
yProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgS
erGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAla
ThrAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGl
uValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValL
euPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGln
HisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrAr
gValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyL
euArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGly
ProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluVa
lThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleA
laGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMet
SerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLe
uValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValA
rgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGly
GlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTy
rThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnL
ysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIle
AlaThrGlyGlyValIleAspProValHisSerHisArgValProValAs
pValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuA
laAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGlu
AsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspTh
rGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnL
euSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGly
SerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTy
rArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgA
laGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeu
AlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProAr
gProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValG
lyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGly
TyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGl
yThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluG
luAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArg
GlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyAr
gSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCy
sGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAr
gArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyG
lnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyr
LeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAl
aLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluT
hrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVal
SerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuAr
gAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspS
erValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVal
ProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAl
aMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluA
laGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeu
SerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGl
uLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrT
hrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVal
ArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVa
lIleAspProValHisSerHisArgValProValAspValAlaTyrArgA
rgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAsp
AspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVa
lGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetL
euGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeu
ArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGl
nGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerG
luAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThr
ValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAl
aGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgG
luAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGly
ArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAl
aAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuP
roAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAla
ProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluPr
oGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluG
lyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGln
GluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGl
nGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerG
luAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGly
LeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGl
uArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaS
erGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeu
AlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLy
sArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaL
ysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrp
LysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAl
aAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValG
luGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeu
LeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGl
nGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluH
isGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAsp
ProValHisSerHisArgValProValAspValAlaTyrArgArgGlyTy
rPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrL
ysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeu
LeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLe
uAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysA
laLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGln
SerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspAr
gArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluG
luLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAla
ArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLe
uArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaV
alProMetTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArg
GluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLe
uThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyA
laArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPro
AlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGl
yGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnT
hrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArg
ProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaAr
gArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProA
spLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeu
SerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLe
uHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaHisG
lyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyr
LeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGl
nProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyV
alLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThr
GlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAl
aValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerA
laGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIle
SerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIl
eArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValH
isSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAsp
GluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPh
ePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgA
rgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGly
ArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuAr
gAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValS
erValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGln
AspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGl
yAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaG
luAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAla
AlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVa
lTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluL
euLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArg
ArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPr
oGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyA
rgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGly
GluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuAr
gAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValS
erValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAsp
GluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVa
lAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysV
alSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThr
SerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLy
sThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluG
lyThrSerCysIleValGlyValLeuValProAlaLysAspGlnProGly
ArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuAr
gProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheV
alIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAla
AlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluAr
gAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuP
heGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeu
LeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHi
sArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluM
etAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAsp
ProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVa
lProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlyS
erAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAla
ArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTr
pGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuL
euSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThr
LeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGl
uAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrM
etGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAsp
ValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAl
aGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuT
hrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeu
GlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAs
pGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrG
lnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysGluGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProCysProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProAlaProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleThrThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGl
nGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheG
lnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSer
GluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGl
yLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGluG
luArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAla
SerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLe
uAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValL
ysArgTyrLeuGluGlyThrSerCysIleValGlyValLeuValProAla
LysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTr
pLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnA
laAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVal
GluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLe
uLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyG
lnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGlu
HisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAs
pProValHisSerHisArgValProValAspValAlaTyrArgArgGlyT
yrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThr
LysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLe
uLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnL
euAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCys
AlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGl
nSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspA
rgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGlu
GluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAl
aArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaL
euArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAla
ValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaAr
gGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaL
euThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGly
AlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyPr
oAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnG
lyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGln
ThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyAr
gProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaA
rgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuPro
AspLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLe
uSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluL
euHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGln
GlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTy
rLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspG
lnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGly
ValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaTh
rGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluA
laValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSer
AlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIl
eSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyI
leArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProVal
HisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAs
pGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyP
hePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArg
ArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGl
yArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuA
rgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerVal
SerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGl
nAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuG
lyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaTrpAla
GluAlaGluAlaGlySerProCysProAspProArgGluAlaLeuArgAl
aAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProV
alTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGlu
LeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrAr
gArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgP
roGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGly
ArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGl
yGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuA
rgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProVal
SerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAs
pGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuV
alAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLys
ValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisTh
rSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrL
ysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGlu
GlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGl
yArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuA
rgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPhe
ValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAl
aAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluA
rgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeu
PheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLe
uLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerH
isArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGlu
MetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAs
pProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysV
alProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGly
SerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAl
aArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValT
rpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeu
LeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaTh
rLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaG
luAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaThrAlaAlaAlaArgArgGlnGluGlnThrLe
uArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProV
alSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArg
AspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLe
uValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerL
ysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuHis
ThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyTh
rLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuG
luGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnPro
GlyHisGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLe
uArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyP
heValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaVal
AlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGl
uArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerL
euPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArg
LeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSe
rHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluG
luMetAsnArgValLeuAlaHisProSerAspAspThrLysGlyPhePhe
AspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCy
sValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgG
lySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAsp
AlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVa
lTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspL
euLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAla
ThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAl
aGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaT
hrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrp
AspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLe
uAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgL
euThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11032/16005 10957/15267 3653/5088 chr8 143862296
chr8:143862300 G
G
 A
A
 3 a0096
a0254
a0258
a0096
a0254
a0258
 3 HG01256.hp2
HG01358.hp1
NA20752.hp2
HG01256.hp2
HG01358.hp1
NA20752.hp2
 missense_variant MODERATE c.10954C>T
c.10954C>T
 p.Arg3652Trp
p.Arg3652Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11029/16005 10954/15267 3652/5088 chr8 143862300
chr8:143862383 A
A
 G
G
 1 a0114
a0114
 1 NA20129.hp2
NA20129.hp2
 missense_variant MODERATE c.10871T>C
c.10871T>C
 p.Phe3624Ser
p.Phe3624Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10946/16005 10871/15267 3624/5088 chr8 143862383
chr8:143862414 T
T
 C
C
 43 a0007
a0008
a0010
others(40): Show 
a0007
a0008
a0010
a0011
a0014
a0015
a0022
a0026
a0033
a0044
a0054
a0061
a0065
a0068
a0074
a0075
a0078
a0079
a0089
a0094
a0101
a0115
a0120
a0128
a0157
a0158
a0160
a0206
a0225
a0253
a0256
a0260
a0263
a0269
a0273
a0274
a0281
a0283
a0284
a0290
a0291
a0303
a0306
 62 HG00323.hp2
HG00642.hp2
HG00735.hp1
others(59): Show 
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG01256.hp1
HG01258.hp2
HG01361.hp2
HG01516.hp1
HG01884.hp1
HG02055.hp1
HG02055.hp2
HG02074.hp1
HG02280.hp2
HG02293.hp1
HG02559.hp1
HG02647.hp1
HG02698.hp1
HG02717.hp1
HG02735.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03130.hp1
HG03195.hp1
HG03453.hp2
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG04115.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18954.hp2
NA18960.hp1
NA18972.hp1
NA18974.hp1
NA18983.hp2
NA18995.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19055.hp1
NA19084.hp2
NA19085.hp2
NA19240.hp1
 missense_variant MODERATE c.10840A>G
c.10840A>G
 p.Arg3614Gly
p.Arg3614Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10915/16005 10840/15267 3614/5088 chr8 143862414
chr8:143862431 G
G
 A
A
 4 a0075
a0078
a0079
others(1): Show 
a0075
a0078
a0079
a0296
 4 HG01993.hp1
NA18972.hp1
NA18974.hp1
others(1): Show 
HG01993.hp1
NA18972.hp1
NA18974.hp1
NA19084.hp2
 missense_variant MODERATE c.10823C>T
c.10823C>T
 p.Ala3608Val
p.Ala3608Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10898/16005 10823/15267 3608/5088 chr8 143862431
chr8:143862500 C
C
 CGCAGGGC
others(6365): Show 
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCA
GGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCT
GCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCG
CAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGC
CCTTGGTGTCATCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCG
AAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCAC
GGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGC
CGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATC
TGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGA
CAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCT
CCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTG
GCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCC
CTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGT
CCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAG
CGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTG
GGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCT
CGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGC
CGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGG
CAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGG
CCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGC
CCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTG
CTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT
GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC
CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC
GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG
CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG
GCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC
GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG
CCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCC
TGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTC
CACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGT
CCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGG
CCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACA
GCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCT
GCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGC
TGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGT
GTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGC
CGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCG
ATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTC
CCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCC
CGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGC
TTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCAC
CGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCT
GCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCAC
ATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGC
GGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGA
CCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGG
TCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGC
GGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCT
CCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCC
AGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCT
CAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGA
ACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGG
CGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTC
TCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCT
CCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCC
TCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAA
GTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCC
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCATGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTC
CATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCA
GGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACC
TGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC
CTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGC
CGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTAC
GAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCC
GCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGG
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTTACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCATCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCAT
 2 a0061
a0062
a0061
a0062
 2 HG02280.hp2
HG02630.hp2
HG02280.hp2
HG02630.hp2
 conservative_inframe_insertion MODERATE c.10753_10754insATGC
others(6368): Show 
c.10753_10754insATGCGGCCACCATGGAGGTCAAGGTGGGCCGCCT
CCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGA
GCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTG
GACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGA
GGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGATGCCTGGCGCGGCCCGC
GGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAG
CGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTAACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAG
GAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCA
GGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCG
AGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGC
CTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGA
GCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCT
CCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTG
GCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAA
GCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCA
AGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGG
AAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGC
GGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGG
AGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTG
CTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCA
GCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGC
ACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGAC
CCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTA
CTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCA
AGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTG
CTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCT
GGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTG
CCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAG
AGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCG
GCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGG
AGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCC
CGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCT
GCATGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGG
TGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGG
GAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCT
GACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGG
CCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCA
GCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGG
GGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGA
CCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGG
CCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCG
CCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCG
ACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTC
AGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCT
GCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGG
GCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTAC
CTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCA
GCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCG
TGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACC
GGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGC
CGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGG
CCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATC
TCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCAT
CCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGC
ACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGAC
GAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTT
CTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCC
GCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGC
CGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCG
CGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCT
CCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAG
GACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGG
CGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCG
AGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCG
GCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGT
GTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGC
TGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGC
CGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCC
GCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGC
GAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGC
GAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCG
TGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCT
CCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGAC
GAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGT
CGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGG
TGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACG
TCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAA
GACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGG
GCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGC
CGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCG
GCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCG
TCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCC
GCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCG
CGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCT
TCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTG
CTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCA
CCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGA
TGAACCGTGTCCTGGCCGACCCCAGCGATGACACCAAGGGCTTCTTCGAC
CCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGT
GCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCT
CCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCC
CGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTG
GGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGC
TGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACC
CTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGA
GGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGC
 p.Leu3584_Arg3585ins
others(6372): Show 
p.Leu3584_Arg3585insHisAlaAlaThrMetGluValLysValGly
ArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTy
rValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyT
hrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGlu
AlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGl
yProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgS
erGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgA
rgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGln
PheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLe
uSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaL
euGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThr
GluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSe
rAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgA
spLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSer
ValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPr
oAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaM
etTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAla
GlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSe
rValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluL
ysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThr
GlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValAr
gGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValI
leAspProValHisSerHisArgValProValAspValAlaTyrArgArg
GlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAs
pThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValG
lnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeu
GlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuAr
gCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnG
lyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGlu
AspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVa
lGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaG
lnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGlu
AlaLeuHisAlaAlaThrMetGluValLysValGlyArgLeuArgGlyAr
gAlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaA
laArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuPro
AlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaPr
oGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProG
lyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGly
GlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGl
uGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnG
lyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGlu
AlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLe
uProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluA
rgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSer
GluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAl
aGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysA
rgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLys
AspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLy
sGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaA
laThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGlu
GluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLe
uSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnG
lnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHis
GlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPr
oValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrP
heAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLys
GlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLe
uArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuA
laGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAla
LeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSe
rValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgA
rgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGlu
LeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaAr
gAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuA
rgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVal
ProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGl
uGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuT
hrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAla
ArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAl
aGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyG
luGlyGluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThr
LeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgPr
oValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgA
rgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAsp
LeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSe
rLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuH
isThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGly
ThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLe
uGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnP
roGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVal
LeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGl
yPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaV
alAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAla
GluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSe
rLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleA
rgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHis
SerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGl
uGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPheP
heAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArg
CysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyAr
gGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgA
spAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSer
ValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAs
pLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyA
laThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGlu
AlaGluAlaGlySerProArgProAspProArgGluAlaLeu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10828/16005 10753/15267 3585/5088 chr8 143862500
chr8:143862513 G
G
 A
A
 1 a0146
a0146
 1 HG02056.hp1
HG02056.hp1
 missense_variant MODERATE c.10741C>T
c.10741C>T
 p.Arg3581Trp
p.Arg3581Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10816/16005 10741/15267 3581/5088 chr8 143862513
chr8:143862569 T
T
 G
G
 1 a0226
a0226
 1 NA19076.hp1
NA19076.hp1
 missense_variant MODERATE c.10685A>C
c.10685A>C
 p.Gln3562Pro
p.Gln3562Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10760/16005 10685/15267 3562/5088 chr8 143862569
chr8:143862594 C
C
 T
T
 4 a0029
a0132
a0147
others(1): Show 
a0029
a0132
a0147
a0224
 5 HG02280.hp1
HG02300.hp1
HG02809.hp2
others(2): Show 
HG02280.hp1
HG02300.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
 missense_variant MODERATE c.10660G>A
c.10660G>A
 p.Ala3554Thr
p.Ala3554Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10735/16005 10660/15267 3554/5088 chr8 143862594
chr8:143862654 G
G
 A
A
 2 a0210
a0215
a0210
a0215
 2 HG00099.hp2
HG00738.hp1
HG00099.hp2
HG00738.hp1
 missense_variant MODERATE c.10600C>T
c.10600C>T
 p.Arg3534Trp
p.Arg3534Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10675/16005 10600/15267 3534/5088 chr8 143862654
chr8:143862660 C
C
 G
G
 1 a0147
a0147
 1 HG02280.hp1
HG02280.hp1
 missense_variant MODERATE c.10594G>C
c.10594G>C
 p.Glu3532Gln
p.Glu3532Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10669/16005 10594/15267 3532/5088 chr8 143862660
chr8:143862708 C
C
 A
A
 2 a0017
a0247
a0017
a0247
 4 NA18942.hp1
NA18951.hp1
NA19057.hp1
others(1): Show 
NA18942.hp1
NA18951.hp1
NA19057.hp1
NA19088.hp2
 missense_variant MODERATE c.10546G>T
c.10546G>T
 p.Gly3516Cys
p.Gly3516Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10621/16005 10546/15267 3516/5088 chr8 143862708
chr8:143862717 C
C
 T
T
 5 a0134
a0210
a0215
others(2): Show 
a0134
a0210
a0215
a0271
a0298
 5 HG00099.hp2
HG00738.hp1
HG02683.hp2
others(2): Show 
HG00099.hp2
HG00738.hp1
HG02683.hp2
HG03669.hp2
NA20752.hp1
 missense_variant MODERATE c.10537G>A
c.10537G>A
 p.Ala3513Thr
p.Ala3513Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10612/16005 10537/15267 3513/5088 chr8 143862717
chr8:143862737 C
C
 T
T
 10 a0003
a0076
a0082
others(7): Show 
a0003
a0076
a0082
a0092
a0129
a0166
a0228
a0242
a0243
a0267
 16 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(13): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.10517G>A
c.10517G>A
 p.Arg3506His
p.Arg3506His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10592/16005 10517/15267 3506/5088 chr8 143862737
chr8:143862822 C
C
 T
T
 5 a0110
a0111
a0112
others(2): Show 
a0110
a0111
a0112
a0113
a0209
 5 HG02723.hp2
HG03130.hp2
HG03139.hp1
others(2): Show 
HG02723.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
 missense_variant MODERATE c.10432G>A
c.10432G>A
 p.Gly3478Arg
p.Gly3478Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10507/16005 10432/15267 3478/5088 chr8 143862822
chr8:143862846 G
G
 A
A
 1 a0183
a0183
 1 NA19058.hp2
NA19058.hp2
 missense_variant MODERATE c.10408C>T
c.10408C>T
 p.Arg3470Cys
p.Arg3470Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10483/16005 10408/15267 3470/5088 chr8 143862846
chr8:143862849 G
G
 A
A
 5 a0072
a0098
a0107
others(2): Show 
a0072
a0098
a0107
a0108
a0116
 5 HG01109.hp2
HG01175.hp2
HG02965.hp2
others(2): Show 
HG01109.hp2
HG01175.hp2
HG02965.hp2
HG03486.hp2
HG03579.hp2
 missense_variant MODERATE c.10405C>T
c.10405C>T
 p.Arg3469Cys
p.Arg3469Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10480/16005 10405/15267 3469/5088 chr8 143862849
chr8:143862900 C
C
 A
A
 1 a0143
a0143
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.10354G>T
c.10354G>T
 p.Gly3452Cys
p.Gly3452Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10429/16005 10354/15267 3452/5088 chr8 143862900
chr8:143862962 C
C
 T
T
 4 a0119
a0143
a0144
others(1): Show 
a0119
a0143
a0144
a0161
 4 HG02622.hp2
HG02922.hp1
HG03209.hp1
others(1): Show 
HG02622.hp2
HG02922.hp1
HG03209.hp1
NA19240.hp2
 missense_variant MODERATE c.10292G>A
c.10292G>A
 p.Arg3431Gln
p.Arg3431Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10367/16005 10292/15267 3431/5088 chr8 143862962
chr8:143862962 CGGTAGGC
others(1586): Show 
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCT
 C
C
 21 a0007
a0010
a0014
others(18): Show 
a0007
a0010
a0014
a0044
a0045
a0089
a0094
a0145
a0148
a0157
a0167
a0199
a0210
a0215
a0256
a0260
a0261
a0262
a0274
a0290
a0291
 30 HG00099.hp2
HG00738.hp1
HG00741.hp1
others(27): Show 
HG00099.hp2
HG00738.hp1
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG02074.hp1
HG02080.hp1
HG02293.hp1
HG02647.hp1
HG02735.hp2
HG02886.hp2
HG03209.hp2
HG03453.hp2
HG04204.hp1
HG04228.hp2
NA18945.hp2
NA18954.hp2
NA18977.hp2
NA18983.hp2
NA18991.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19012.hp1
NA19089.hp1
 disruptive_inframe_deletion MODERATE c.8699_10291del
c.8699_10291del
 p.Gln2900_Tyr3430del
p.Gln2900_Tyr3430del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10366/16005 8699/15267 2900/5088 chr8 143862962
chr8:143862987 G
G
 A
A
 1 a0136
a0136
 1 HG02080.hp2
HG02080.hp2
 missense_variant MODERATE c.10267C>T
c.10267C>T
 p.Arg3423Cys
p.Arg3423Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10342/16005 10267/15267 3423/5088 chr8 143862987
chr8:143863280 G
G
 A
A
 7 a0033
a0063
a0124
others(4): Show 
a0033
a0063
a0124
a0141
a0194
a0283
a0284
 8 HG01168.hp1
HG02257.hp2
HG02258.hp1
others(5): Show 
HG01168.hp1
HG02257.hp2
HG02258.hp1
HG02572.hp1
HG02809.hp1
NA18612.hp2
NA18960.hp1
NA19055.hp1
 missense_variant MODERATE c.9974C>T
c.9974C>T
 p.Thr3325Met
p.Thr3325Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10049/16005 9974/15267 3325/5088 chr8 143863280
chr8:143863284 C
C
 T
T
 1 a0141
a0141
 1 HG02258.hp1
HG02258.hp1
 missense_variant MODERATE c.9970G>A
c.9970G>A
 p.Gly3324Ser
p.Gly3324Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10045/16005 9970/15267 3324/5088 chr8 143863284
chr8:143863337 C
C
 T
T
 1 a0115
a0115
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.9917G>A
c.9917G>A
 p.Arg3306His
p.Arg3306His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9992/16005 9917/15267 3306/5088 chr8 143863337
chr8:143863356 C
C
 T
T
 1 a0279
a0279
 1 HG02738.hp1
HG02738.hp1
 missense_variant MODERATE c.9898G>A
c.9898G>A
 p.Ala3300Thr
p.Ala3300Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9973/16005 9898/15267 3300/5088 chr8 143863356
chr8:143863366 GACGCCCG
others(1576): Show 
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCT
CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG
GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA
GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC
GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG
GCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGG
CCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTGCCC
GCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCG
GTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCG
AGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTC
AGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCC
GGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGT
TCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCG
GCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCCAC
GTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGG
CGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCC
TTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGT
GTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGC
CGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTG
CGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCAC
CAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGC
TCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGC
 G
G
 1 a0200
a0200
 1 NA18944.hp2
NA18944.hp2
 frameshift_variant HIGH c.8305_9887del
c.8305_9887del
 p.Ala2769fs
p.Ala2769fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9962/16005 8305/15267 2769/5088 chr8 143863366
chr8:143863460 C
C
 T
T
 1 a0282
a0282
 1 HG04115.hp1
HG04115.hp1
 missense_variant MODERATE c.9794G>A
c.9794G>A
 p.Arg3265Gln
p.Arg3265Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9869/16005 9794/15267 3265/5088 chr8 143863460
chr8:143863500 C
C
 T
T
 1 a0263
a0263
 1 NA19011.hp2
NA19011.hp2
 missense_variant MODERATE c.9754G>A
c.9754G>A
 p.Glu3252Lys
p.Glu3252Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9829/16005 9754/15267 3252/5088 chr8 143863500
chr8:143863502 G
G
 A
A
 1 a0281
a0281
 1 NA18995.hp1
NA18995.hp1
 missense_variant MODERATE c.9752C>T
c.9752C>T
 p.Ser3251Phe
p.Ser3251Phe
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9827/16005 9752/15267 3251/5088 chr8 143863502
chr8:143863518 A
A
 G
G
 154 a0003
a0008
a0009
others(151): Show 
a0003
a0008
a0009
a0011
a0015
a0021
a0022
a0023
a0024
a0025
a0026
a0030
a0033
a0034
a0037
a0038
a0040
a0041
a0043
a0049
a0053
a0054
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0065
a0066
a0067
a0068
a0069
a0070
a0072
a0073
a0074
a0075
a0076
a0078
a0079
a0080
a0081
a0082
a0090
a0091
a0092
a0095
a0096
a0097
a0098
a0100
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0116
a0117
a0119
a0120
a0121
a0122
a0123
a0124
a0128
a0129
a0130
a0133
a0141
a0142
a0143
a0144
a0153
a0154
a0155
a0156
a0158
a0159
a0160
a0161
a0162
a0163
a0164
a0165
a0166
a0193
a0194
a0198
a0202
a0206
a0207
a0208
a0209
a0217
a0218
a0219
a0222
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0242
a0243
a0244
a0253
a0254
a0255
a0257
a0258
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0286
a0287
a0288
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
a0306
 186 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(183): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02135.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9736T>C
c.9736T>C
 p.Cys3246Arg
p.Cys3246Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9811/16005 9736/15267 3246/5088 chr8 143863518
chr8:143863646 C
C
 T
T
 1 a0205
a0205
 1 NA19082.hp2
NA19082.hp2
 missense_variant MODERATE c.9608G>A
c.9608G>A
 p.Arg3203His
p.Arg3203His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9683/16005 9608/15267 3203/5088 chr8 143863646
chr8:143863715 C
C
 T
T
 1 a0182
a0182
 1 NA18990.hp2
NA18990.hp2
 missense_variant MODERATE c.9539G>A
c.9539G>A
 p.Arg3180His
p.Arg3180His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9614/16005 9539/15267 3180/5088 chr8 143863715
chr8:143863716 G
G
 A
A
 1 a0141
a0141
 1 HG02258.hp1
HG02258.hp1
 missense_variant MODERATE c.9538C>T
c.9538C>T
 p.Arg3180Cys
p.Arg3180Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9613/16005 9538/15267 3180/5088 chr8 143863716
chr8:143863719 G
G
 A
A
 2 a0230
a0272
a0230
a0272
 2 HG02683.hp1
HG03710.hp1
HG02683.hp1
HG03710.hp1
 stop_gained HIGH c.9535C>T
c.9535C>T
 p.Gln3179*
p.Gln3179*
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9610/16005 9535/15267 3179/5088 chr8 143863719
chr8:143863739 C
C
 T
T
 2 a0122
a0133
a0122
a0133
 2 HG02717.hp2
NA18522.hp2
HG02717.hp2
NA18522.hp2
 missense_variant MODERATE c.9515G>A
c.9515G>A
 p.Arg3172His
p.Arg3172His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9590/16005 9515/15267 3172/5088 chr8 143863739
chr8:143863754 T
T
 TGCGGGCG
others(5): Show 
TGCGGGCGGCGGC
 1 a0280
a0280
 1 HG01515.hp1
HG01515.hp1
 conservative_inframe_insertion MODERATE c.9499_9500insGCCGCC
others(6): Show 
c.9499_9500insGCCGCCGCCCGC
 p.Arg3166_Gln3167ins
others(12): Show 
p.Arg3166_Gln3167insArgArgArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9574/16005 9499/15267 3167/5088 chr8 143863754
chr8:143863761 G
G
 GGGCGGCA
others(5): Show 
GGGCGGCAGCGGC
 2 a0217
a0286
a0217
a0286
 2 NA18971.hp2
NA19054.hp1
NA18971.hp2
NA19054.hp1
 conservative_inframe_insertion MODERATE c.9492_9493insGCCGCT
others(6): Show 
c.9492_9493insGCCGCTGCCGCC
 p.Ala3161_Ala3164dup
p.Ala3161_Ala3164dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 9492/15267 3164/5088 chr8 143863761
chr8:143863761 G
G
 GGGCGGCG
others(2): Show 
GGGCGGCGGC
 25 a0065
a0066
a0067
others(22): Show 
a0065
a0066
a0067
a0072
a0073
a0075
a0078
a0079
a0098
a0100
a0106
a0107
a0108
a0109
a0116
a0119
a0143
a0144
a0161
a0239
a0253
a0269
a0273
a0278
a0306
 25 HG01106.hp1
HG01109.hp2
HG01175.hp2
others(22): Show 
HG01106.hp1
HG01109.hp2
HG01175.hp2
HG01361.hp2
HG02055.hp1
HG02109.hp1
HG02145.hp2
HG02559.hp2
HG02622.hp2
HG02922.hp1
HG02965.hp2
HG03195.hp2
HG03209.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp2
HG03579.hp2
NA18952.hp2
NA18957.hp1
NA18972.hp1
NA18974.hp1
NA19084.hp2
NA19240.hp1
NA19240.hp2
NA21309.hp1
 conservative_inframe_insertion MODERATE c.9484_9492dupGCCGCC
others(3): Show 
c.9484_9492dupGCCGCCGCC
 p.Ala3162_Ala3164dup
p.Ala3162_Ala3164dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 9492/15267 3164/5088 chr8 143863761
chr8:143863761 G
G
 GGGCGGCG
others(5): Show 
GGGCGGCGGCGGC
 70 a0008
a0009
a0021
others(67): Show 
a0008
a0009
a0021
a0022
a0023
a0026
a0030
a0033
a0034
a0037
a0038
a0040
a0041
a0043
a0049
a0053
a0090
a0091
a0095
a0096
a0105
a0130
a0153
a0154
a0155
a0156
a0158
a0159
a0162
a0163
a0164
a0165
a0202
a0206
a0207
a0208
a0218
a0219
a0222
a0230
a0232
a0233
a0235
a0236
a0238
a0244
a0254
a0255
a0257
a0258
a0264
a0265
a0272
a0275
a0276
a0277
a0279
a0282
a0283
a0284
a0287
a0288
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
 91 HG00323.hp2
HG00408.hp2
HG00597.hp1
others(88): Show 
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02129.hp1
HG02129.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18972.hp2
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19080.hp1
NA19084.hp1
NA19085.hp2
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 conservative_inframe_insertion MODERATE c.9481_9492dupGCCGCC
others(6): Show 
c.9481_9492dupGCCGCCGCCGCC
 p.Ala3161_Ala3164dup
p.Ala3161_Ala3164dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 9492/15267 3164/5088 chr8 143863761
chr8:143863761 G
G
 GGGGCGGC
others(6): Show 
GGGGCGGCGGCGGC
 1 a0266
a0266
 1 NA19076.hp2
NA19076.hp2
 frameshift_variant HIGH c.9492_9493insGCCGCC
others(7): Show 
c.9492_9493insGCCGCCGCCGCCC
 p.Arg3165fs
p.Arg3165fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 9492/15267 3164/5088 chr8 143863761
chr8:143863761 GGGCGGCG
others(1589): Show 
GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC
TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG
CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT
CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC
AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT
CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA
GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG
TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC
CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG
TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC
TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC
GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT
CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG
AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT
GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG
GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG
GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC
CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA
GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG
TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT
CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA
GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC
AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA
GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA
CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC
TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT
CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC
GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG
ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC
CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG
AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC
TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
 G
G
 2 a0263
a0281
a0263
a0281
 2 NA18995.hp1
NA19011.hp2
NA18995.hp1
NA19011.hp2
 conservative_inframe_deletion MODERATE c.7897_9492del
c.7897_9492del
 p.Ala2633_Ala3164del
p.Ala2633_Ala3164del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 7897/15267 2633/5088 chr8 143863761
chr8:143863761 GGGCGGCG
others(1601): Show 
GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC
TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG
CGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCT
CGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCC
AGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCT
CACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGA
GGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGG
TCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGC
CTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCG
TGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACC
TCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGC
GCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCT
CGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAG
AGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGT
GAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGG
GGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAG
GCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCC
CGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGA
GGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGG
TCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGAT
CTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCA
GGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGC
AGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTA
GATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGA
CGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATC
TCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGT
CTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGC
GCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCG
ATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGC
CGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGG
AGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGC
TGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGC
GGCGGCGGC
 G
G
 4 a0005
a0088
a0169
others(1): Show 
a0005
a0088
a0169
a0252
 7 HG01358.hp2
HG01978.hp2
HG01981.hp2
others(4): Show 
HG01358.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02300.hp2
NA19009.hp2
NA20300.hp1
 conservative_inframe_deletion MODERATE c.7885_9492del
c.7885_9492del
 p.Ala2629_Ala3164del
p.Ala2629_Ala3164del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9567/16005 7885/15267 2629/5088 chr8 143863761
chr8:143863764 C
C
 CGGCGGCG
others(11162): Show 
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCA
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
ACGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCACGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGTGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTG
GTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAG
CGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCC
CGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAG
GACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGAC
GGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGA
GCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCAC
ACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGC
ATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGG
TCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCC
CCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAG
CTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCA
GCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCC
AGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTC
CCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGG
TGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCG
GCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGT
GGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCA
GGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAG
ACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGC
GTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGC
CCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACG
CAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTC
GAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCT
CCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGG
CTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAG
GCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGA
GGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGC
TCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGC
CACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGA
AGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGC
AGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCC
GGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCT
CCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTA
GTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGT
GTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCT
TGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACG
AGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTC
TCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGA
CCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGC
AGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGTGCCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAG
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC
TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG
CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC
CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC
GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG
GGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG
CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG
GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC
CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT
CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG
TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG
GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC
AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC
TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG
CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGG
TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG
CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC
GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT
CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC
CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG
CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA
CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC
TGCGCCTCCAGCAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCA
CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG
CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG
ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG
GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG
CGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC
TCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC
CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC
TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG
AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG
GCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCC
CCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCT
GGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGC
CCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCA
GCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCC
CGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCAC
CGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCA
GGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGG
GCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTC
CTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC
GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC
TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC
ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA
GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC
AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT
GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT
AGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG
TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG
CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT
GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC
AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC
CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG
CCTGCGCCTCCAGCAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTC
CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT
GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT
TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC
AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA
GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT
CCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG
CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC
GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT
GGAACTGCCCGCACTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC
TGGCGGCGGGCGGCGGCGGT
 1 a0114
a0114
 1 NA20129.hp2
NA20129.hp2
 conservative_inframe_insertion MODERATE c.9489_9490insACCGCC
others(11163): Show 
c.9489_9490insACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGTGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTG
CTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCAC
CCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCG
AGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACC
ATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGA
CGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGG
CCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTG
ACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCT
CCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGG
ACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACC
CAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAG
GAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGG
CACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCG
ACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGC
GTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGT
CACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGG
CCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAG
GCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGT
GCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACC
GTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAAC
ACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGA
CCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCG
TGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTG
ACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCT
CCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCA
GATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCACCACCCTCACC
TCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGG
GAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGG
TCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTG
GCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTT
TGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCA
TCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGAC
GCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGA
CTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGG
CCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
TGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGTG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGTGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC
AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC
CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG
CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG
GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG
GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGC
CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC
TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC
AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC
CAAGGACCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAGGCCATGT
GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG
GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT
GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC
TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGG
CAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA
GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG
ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC
TACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACAC
CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC
TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG
CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG
TGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCC
AGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGTGAGGTGTCCGAGGAC
CGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGA
GGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGG
CCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCC
CTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGC
GGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCC
GGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCG
CTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGG
GGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGC
CAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAG
GGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
 p.Ala3163_Ala3164ins
others(11169): Show 
p.Ala3163_Ala3164insThrAlaAlaAlaArgArgGlnGluGlnThr
LeuArgAspAlaThrMetGluValGlnCysGlyGlnPheGlnGlyArgPr
oValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgA
rgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAsp
LeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSe
rLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuH
isThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGly
ThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLe
uGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnP
roGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVal
LeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGl
yPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaV
alAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAla
GluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSe
rLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleA
rgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHis
SerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGl
uGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPheP
heAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArg
CysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyAr
gGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgA
spAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSer
ValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAs
pLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyA
laThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGlu
AlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAl
aThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValT
rpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeu
LeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgAr
gLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProG
lnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArg
GlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGl
uThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnT
hrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArg
ProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaAr
gArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProA
spLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeu
SerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLe
uHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnG
lyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyr
LeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGl
nProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyV
alLeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThr
GlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAl
aValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerA
laGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIle
SerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIl
eArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValH
isSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAsp
GluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPh
ePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgA
rgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGly
ArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuAr
gAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValS
erValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGln
AspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGl
yAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaG
luAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAla
AlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVa
lTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluL
euLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArg
ArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPr
oGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyA
rgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGly
GluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuAr
gAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValS
erValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAsp
GluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVa
lAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysV
alSerPheArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThr
SerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLy
sThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluG
lyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGly
ArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuAr
gProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheV
alIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAla
AlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluAr
gAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuP
heGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeu
LeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHi
sArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluM
etAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAsp
ProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVa
lProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlyS
erAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAla
ArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTr
pGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuL
euSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyThrThr
LeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGl
uAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrM
etGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAsp
ValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAl
aGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuT
hrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeu
GlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAs
pGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrG
lnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSer
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyHisGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgA
rgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluSerGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgCysGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyHisGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAs
pAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrV
alGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMet
LeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLe
uArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuG
lnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSer
GluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuTh
rValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9564/16005 9489/15267 3163/5088 chr8 143863764
chr8:143863764 C
C
 CGGCGGCG
others(17526): Show 
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGATGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCACCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTG
GTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAG
CGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCC
CGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAG
GACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGAC
GGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGA
GCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCAC
ACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGC
ATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGG
TCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCC
CCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAG
CTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCA
GCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCC
AGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTC
CCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGG
TGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCG
GCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGT
GGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCA
GGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAG
ACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGC
GTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGC
CCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACG
CAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTC
GAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCT
CCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGG
CTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAG
GCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGA
GGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGC
TCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGC
CACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGA
AGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGC
AGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCC
GGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCT
CCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTA
GTGCCCTGGGCCAGGTCCCACAGGGTCTCGGGGCCCAGGATCCCGGACGT
GTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCT
TGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACG
AGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTC
TCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGA
CCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGC
AGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCACCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAG
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCC
TGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGG
CCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCC
CGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGC
GCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCG
GGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCG
CGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGG
GCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGC
CTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCT
CCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGG
TCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTG
GCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCAC
AGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGC
TGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAG
CTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGG
TGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAG
CCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTC
GATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCT
CCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGC
CCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAG
CTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCA
CCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCC
TGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCA
CATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGG
CGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTG
ACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAG
GTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGG
CGGACACCTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCC
TCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCC
CAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGC
TCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGG
AACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTG
GCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA
AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC
CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC
CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC
GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGATGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCATGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTG
GGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCG
GGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCG
GCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAG
GGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCA
CGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGG
CGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTC
TGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCT
GGGCCAGCAGCGAGGTGAGGGTGGCACCCAGCTCCTCCACGGTCAGCGTG
CCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTC
GCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGC
CCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCG
CTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAG
CCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGA
GGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGG
TCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGC
CACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCG
TGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGG
TCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTC
GGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCT
CGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGG
TTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAG
CACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGA
TGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACG
CCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTC
CGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCT
CGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGC
CTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGAT
GACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCG
CGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAG
AAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTG
CACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGG
CGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGC
CCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCG
CCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCT
CGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCC
GAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCC
GGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCA
CCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGC
GGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAG
CAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCC
GGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAG
AAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCC
TGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCT
GGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTG
TCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTC
GTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCA
GGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCC
ACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGAT
CTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCT
GCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAG
CCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCC
CACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGC
CTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGT
CGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCG
TCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGAT
GGCGGTCAGCCGGCGGGTCAGCGCGGGCCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGC
CAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGA
CCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTC
CCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGTCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTG
GGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGT
CCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGG
AGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGT
CAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGG
CCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACG
TCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCAT
GGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCT
CGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGG
GTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAG
CAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCC
AGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGG
GCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGA
GCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCA
CGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGG
TCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCAT
CTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGT
GGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGC
AGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAA
GAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGC
GCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCG
GCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGAC
GAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCC
GCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGG
CCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCC
CTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCT
TAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGAC
GTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACAC
CTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGA
CGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCG
TCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGA
GACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCAC
GCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGT
 1 a0025
a0025
 1 HG03041.hp2
HG03041.hp2
 frameshift_variant&stop_gained HIGH c.9489_9490insACCGCC
others(17527): Show 
c.9489_9490insACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCA
CCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGG
GACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCT
GGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCC
TCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTC
CGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGAT
CCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGACACTAAGACGCTGC
AGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGC
TGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGA
GAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCA
CGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGAC
CCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGT
GGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCA
CCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCC
ATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGC
CCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGC
CCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGT
GTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACAC
GCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACC
CGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTG
CACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGAC
GCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCC
TCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGA
TACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTC
GCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGA
GCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTC
AAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGC
GTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTG
GCTCGGGGACCCTGGACTTGGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGG
AGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTC
CTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCA
GCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCC
GGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGC
CTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGG
CCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGG
TGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATC
GCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGAT
GAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCC
TGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTG
CGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGG
CGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCT
ACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAG
AAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGAT
CGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGG
ACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTG
GCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGA
GAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACA
CCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAG
CTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGG
CTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCT
ACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGG
GCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCT
GGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGC
GCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTG
GGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGG
CTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGG
GGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAG
GAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCG
CGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGC
GCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCC
GCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCA
GCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCT
CCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCG
GCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCAT
CGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGC
GCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAG
ACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGA
GATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCG
TCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATC
TACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCT
GCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACC
TGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAG
ATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGA
CCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACC
TCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACG
GGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGC
CTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACC
CCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTC
ACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCT
CTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCG
AGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGC
GCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGA
GGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCA
CGCTGACCGTGGAGGAGCTGGGTGCCACCCTCACCTCGCTGCTGGCCCAG
GCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGA
CCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCC
TCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTG
AGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCT
GGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCG
AGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCG
CGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCA
GCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCC
GCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGG
CAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTA
CCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCG
CCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAG
ACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGT
GTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGC
GGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGAC
TCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGT
GCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGG
CCATGTGGAAGGGCGTGCTGCGGCCCGGCATGGCCCTGGTGCTGCTGGAG
GCGCAGGCGGCCACCGGCTTCATCATCGACCCCGTGCGCAACCTGAGGCT
GTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGG
AGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTAC
ACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGT
CCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCG
TCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGG
CGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGA
CGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACG
TGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATG
CTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCT
GCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCC
AGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCC
GAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGAC
CGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGG
CCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGG
GAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGG
GCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGG
CCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTG
CCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGC
CCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGC
CAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAG
GGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCA
GGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCC
AGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGC
GAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGG
CCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGG
AGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGGTGTCCGCC
TCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCT
GGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCA
AGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCC
AAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTG
GAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGG
CGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTG
GAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCT
GCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGC
AGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAG
CACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGA
CCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCT
ACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACC
AAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCT
GCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGC
TGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGT
GCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCA
GAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACC
GGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAG
GAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGC
CCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCC
TGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCG
GTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCG
GGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGC
TGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGG
GCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCC
AGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGG
GGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAG
ACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCG
GCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCC
GCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCC
GACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCT
CAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGC
TGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAG
GGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTA
CCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACC
AGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGC
GTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCAC
CGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGG
CCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCG
GCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGAT
CTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCA
TCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTG
CACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGA
CGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCT
TCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGC
CGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGG
CCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGC
GCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTC
TCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCA
GGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGG
GTGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCC
GAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGC
GGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCG
TGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAG
CTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCG
CCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGC
CGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGG
CGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGG
CGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGTGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTG
CTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCAC
CCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCG
AGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACC
ATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGA
CGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGG
CCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTG
ACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCT
CCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGG
ACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACC
CAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAG
GAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGG
CACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCG
ACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGC
GTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGT
CACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGG
CCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAG
GCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGT
GCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACC
GTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAAC
ACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGA
CCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCG
TGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTG
ACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCT
CCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCA
GATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACC
TCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGG
GAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGG
TCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTG
GCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTT
TGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCA
TCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGAC
GCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGA
CTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGG
CCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGTGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCATGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCATCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
 p.Ala3164fs
p.Ala3164fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9564/16005 9489/15267 3163/5088 chr8 143863764
chr8:143863764 C
C
 CGGCGGCG
others(12773): Show 
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCCTCGAAGTAGCCGCGCTGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCG
CTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCC
GCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCC
TCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTC
CAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGC
TCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGG
AGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGG
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGTGGCCGGGCTGGCCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTC
CCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGC
GATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCT
TCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTG
TAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCC
GCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGC
GCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCACAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTTGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGC
AGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCG
AGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCACGCCAG
GCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGAT
GATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGC
CAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGAC
GCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTT
GACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGC
TCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGACGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCC
TGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCC
GTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCT
GGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCG
GTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTC
GGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCA
CGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCC
ATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGC
CTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA
GGGTGGTGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC
AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC
CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGC
GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG
GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG
CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG
GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTC
ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG
GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA
GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG
AAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC
GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCG
CGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATG
ACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGG
CCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGC
GGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTG
CCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGT
CTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGG
ACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCCGCGGAAGGAC
ACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGC
GACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCT
CGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACG
GAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATC
ACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCT
CGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCT
CGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTG
CGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCC
GGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGC
AGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCA
CACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGG
CCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCC
TCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGC
GCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGT
CCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACG
GAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTC
GCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC
GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG
CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA
GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT
CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG
TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG
GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG
AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG
GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC
GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC
CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCATGCCGGGCCGCAGC
ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG
CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA
GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG
CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCAGGCGGCGGCGGTGGCGGCGGCGGCCTCCTGGGT
CTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCC
CTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGC
TGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAG
CCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAGACTCGGCCA
GCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCC
CACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGT
GGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGG
CCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTG
GCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAG
GTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGA
CGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCG
TCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCC
CCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGC
AGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCG
AAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTC
CTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGC
TGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGG
CGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAG
GGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCT
CGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCC
ACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAA
GCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCATGCCGGGCCGCA
GCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCG
GGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTC
CAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAG
TGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTG
TGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTT
GCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGA
GGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCT
CGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGAC
CGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCA
GGGTCTGCTCCTGGCGGCGGGCGGCGGCGGT
 1 a0224
a0224
 1 HG02300.hp1
HG02300.hp1
 conservative_inframe_insertion MODERATE c.9489_9490insACCGCC
others(12774): Show 
c.9489_9490insACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTCTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCACCGCCGCCGCCTGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTG
CTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCAC
CCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCG
AGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACC
ATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGA
CGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGG
CCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTG
ACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCT
CCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGG
ACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACC
CAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAG
GAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGG
CACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCG
ACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGC
GTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGT
CACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGG
CCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAG
GCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGT
GCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACC
GTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAAC
ACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGA
CCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCG
TGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTG
ACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCT
CCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCA
GATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCACCACCCTCACC
TCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGG
GAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGG
TCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTG
GCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTT
TGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCA
TCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGAC
GCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGA
CTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGG
CCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGTCCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GTGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCTGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCAAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGTGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGTGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGGCCAGCCCGGCCACCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCA
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CAGCGCGGCTACTTCGAGGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCA
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTC
ATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGG
CGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCT
ACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCC
AGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCAC
GTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCT
ACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAG
GAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGC
CCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGG
TGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACG
CTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGC
CCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACC
CCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTC
CGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAG
CAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGG
ACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAG
GAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCG
GGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGC
GAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
 p.Ala3163_Ala3164ins
others(12780): Show 
p.Ala3163_Ala3164insThrAlaAlaAlaArgArgGlnGluGlnThr
LeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgPr
oValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgA
rgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAsp
LeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSe
rLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuH
isThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGly
ThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLe
uGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnP
roGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVal
LeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGl
yPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaV
alAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAla
GluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSe
rLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleA
rgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHis
SerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGl
uGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPheP
heAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArg
CysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyAr
gGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgA
spAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSer
ValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAs
pLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyA
laThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGlu
AlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAl
aThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValT
rpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeu
LeuAlaGluSerGlySerGlyThrLeuAspLeuProAlaLeuThrArgAr
gLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProG
lnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArg
GlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGl
uThrGlnGluAlaAlaAlaAlaThrAlaAlaAlaCysArgGlnGluGlnT
hrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArg
ProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaAr
gArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProA
spLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeu
SerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLe
uHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnG
lyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyr
LeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGl
nProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyV
alLeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThr
GlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAl
aValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerA
laGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIle
SerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIl
eArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValH
isSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAsp
GluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPh
ePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgA
rgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGly
ArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuAr
gAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValS
erValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGln
AspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGl
yAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaG
luAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAla
AlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVa
lTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluL
euLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArg
ArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPr
oGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyA
rgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGly
GluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuAr
gAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValS
erValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAsp
GluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVa
lAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysV
alSerPheArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThr
SerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLy
sThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluG
lyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGly
ArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuAr
gProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheV
alIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAla
AlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluAr
gAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuP
heGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeu
LeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHi
sArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluM
etAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAsp
ProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVa
lProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlyS
erAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAla
ArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTr
pGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuL
euSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyThrThr
LeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGl
uAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrM
etGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAsp
ValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAl
aGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuT
hrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeu
GlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAs
pGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrG
lnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheValProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleLysGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuTrpAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSerGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGl
nArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheS
erSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAla
AlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIl
eGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgC
ysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGlu
ThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGl
uMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyV
alLeuValProAlaLysGlyGlnProGlyHisGlnGluLysMetSerIle
TyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLe
uLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnL
euArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGlu
IleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAs
pProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspL
euIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThr
GlyGlyValIleAspProValHisSerHisArgValProValAspValAl
aTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspP
roSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeu
ThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLe
uTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerG
luGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGly
AlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGl
uValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyT
hrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGln
AlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAs
pProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgL
euArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVal
SerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLe
uAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaG
luGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPro
ArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGl
nArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaA
laAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVal
GlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPh
eSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisA
laAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVal
IleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuAr
gArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProG
luThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThr
GluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGl
yValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerI
leTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVal
LeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAs
nLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyG
luIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThr
AspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAs
pLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaT
hrGlyGlyValIleAspProValHisSerHisArgValProValAspVal
AlaTyrGlnArgGlyTyrPheGluGluGluMetAsnArgValLeuAlaAs
pProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnL
euThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGly
LeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSe
rGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerG
lyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArg
GluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGl
yThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaG
lnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgPro
AspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyAr
gLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrV
alSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThr
LeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAl
aGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyP
roArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSer
GlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaTh
rAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluV
alGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeu
PheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHi
sAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgV
alIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeu
ArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPr
oGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValT
hrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAla
GlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSe
rIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuV
alLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArg
AsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGl
yGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrT
hrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLys
AspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAl
aThrGlyGlyValIleAspProValHisSerHisArgValProValAspV
alAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAla
AspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAs
nLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrG
lyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeu
SerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySe
rGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrA
rgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAla
GlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAl
aGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgP
roAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGly
ArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTy
rValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyT
hrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGlu
AlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGl
yProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgS
erGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9564/16005 9489/15267 3163/5088 chr8 143863764
chr8:143863764 C
C
 CGGCGGCG
others(6383): Show 
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAGACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCC
ACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGT
GGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGT
CCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCG
GTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTC
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGTGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCACCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCC
TCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTC
GCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGT
CCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATG
GCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAA
CTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCA
GCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACC
TCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCC
GGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGG
TGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTG
CTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAG
CTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCA
CGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACG
GCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTC
GGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGT
TGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGG
TTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCAC
GCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCT
CCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCC
TGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGAC
GGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGC
CCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCG
ATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCATGCC
GGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCT
GGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTG
GTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAG
CGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCC
CGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAG
GACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGGAC
GGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGA
GCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCAC
ACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGC
ATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGG
CCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAG
TCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGC
GTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGA
TGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCA
AACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGC
CAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGA
CCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTC
CCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGA
GGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATC
TGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGG
AGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGT
CACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCA
CGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGG
TCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGT
GTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACAC
GGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGC
ACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGC
CTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGG
CCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTG
ACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCAC
GCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGT
CGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCATG
CCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTC
CTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGC
TGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGC
AGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGAT
CCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGA
AGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCGGGTGAGG
ACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAG
GAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCC
ACACGGAGACCGGCCGCCCCTGGAACTGCCCGCACTGCACCTCCATGGTG
GCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGT
 1 a0115
a0115
 1 HG03130.hp1
HG03130.hp1
 conservative_inframe_insertion MODERATE c.9489_9490insACCGCC
others(6384): Show 
c.9489_9490insACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGT
GATGCCACCATGGAGGTGCAGTGCGGGCAGTTCCAGGGGCGGCCGGTCTC
CGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACG
AGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTC
GCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGT
GTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGT
CCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAG
ACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGG
CACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCC
GCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGG
CCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGT
CATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCAT
GGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACG
TGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCC
GAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGAC
CGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCC
AGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGAC
GGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCA
GGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGC
GTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTC
TCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGA
CGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCG
TCGCCGTCCTCACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAG
GTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACAC
GTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTA
AGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAG
GGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGG
CCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGC
GGCCCGGCATGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTC
GTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGC
CGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGC
GCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTC
TTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCT
GCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCC
ACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAG
ATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGA
CCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCG
TGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGC
TCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGC
CCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCT
GGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTG
CTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCAC
CCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCG
AGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACC
ATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGA
CGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGG
CCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTG
ACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCT
CCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGG
ACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACC
CAGGAGGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGC
CACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGT
GGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTC
CTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGT
CCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCT
TCCGCGGCCTGAGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGG
ATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCT
GCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCA
GCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAG
GAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGG
CACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCG
ACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGC
GTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGT
CACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGG
CCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAG
GCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGT
GCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACC
GTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAAC
ACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGA
CCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCG
TGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTG
ACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCT
CCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCA
GATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCACCACCCTCACC
TCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGG
GAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGG
TCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTG
GCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTT
TGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCA
TCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGAC
GCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGA
CTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGG
CCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTCTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCC
 p.Ala3163_Ala3164ins
others(6390): Show 
p.Ala3163_Ala3164insThrAlaAlaAlaArgArgGlnGluGlnThr
LeuArgAspAlaThrMetGluValGlnCysGlyGlnPheGlnGlyArgPr
oValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgA
rgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAsp
LeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSe
rLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeuH
isThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGly
ThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLe
uGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnP
roGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVal
LeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGl
yPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAlaV
alAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAla
GluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSe
rLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleA
rgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHis
SerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGl
uGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPheP
heAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArg
CysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyAr
gGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgA
spAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSer
ValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAs
pLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyA
laThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGlu
AlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAl
aThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProValT
rpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeu
LeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgAr
gLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProG
lnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArg
GlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGl
uThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnT
hrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArg
ProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaAr
gArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProA
spLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeu
SerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLe
uHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnG
lyThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyr
LeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGl
nProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyV
alLeuArgProGlyMetAlaLeuValLeuLeuGluAlaGlnAlaAlaThr
GlyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAl
aValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerA
laGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIle
SerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIl
eArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValH
isSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAsp
GluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPh
ePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgA
rgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGly
ArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuAr
gAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValS
erValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGln
AspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGl
yAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaG
luAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAla
AlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVa
lTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluL
euLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArg
ArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPr
oGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyA
rgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGly
GluThrGlnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuAr
gAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValS
erValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAsp
GluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuVa
lAlaValLeuThrArgValIleGluGluThrGluGluArgLeuSerLysV
alSerPheArgGlyLeuArgCysGlnValSerAlaSerGluLeuHisThr
SerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLy
sThrLeuGlnGluValThrGluMetAspSerValLysArgTyrLeuGluG
lyThrSerCysIleAlaGlyValLeuValProAlaLysAspGlnProGly
ArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuAr
gProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheV
alIleAspProValArgAsnLeuArgLeuSerValGluGluAlaValAla
AlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluAr
gAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuP
heGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeu
LeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSerHi
sArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGluM
etAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheAsp
ProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysVa
lProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlyS
erAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAla
ArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTr
pGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuL
euSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyThrThr
LeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGl
uAlaGlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrM
etGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAsp
ValLeuAlaSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAl
aGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuT
hrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeu
GlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAs
pGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrG
lnGluAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluSer
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9564/16005 9489/15267 3163/5088 chr8 143863764
chr8:143863764 C
C
 CGGCGGCG
others(2): Show 
CGGCGGCGGT
 15 a0025
a0063
a0069
others(12): Show 
a0025
a0063
a0069
a0070
a0097
a0110
a0111
a0112
a0113
a0124
a0141
a0194
a0198
a0209
a0251
 15 HG02027.hp1
HG02257.hp2
HG02258.hp1
others(12): Show 
HG02027.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02572.hp1
HG02723.hp2
HG02809.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp2
NA19043.hp2
 conservative_inframe_insertion MODERATE c.9489_9490insACCGCC
others(3): Show 
c.9489_9490insACCGCCGCC
 p.Ala3163_Ala3164ins
others(9): Show 
p.Ala3163_Ala3164insThrAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9564/16005 9489/15267 3163/5088 chr8 143863764
chr8:143863764 C
C
 T
T
 10 a0003
a0076
a0082
others(7): Show 
a0003
a0076
a0082
a0092
a0129
a0166
a0228
a0242
a0243
a0267
 16 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(13): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.9490G>A
c.9490G>A
 p.Ala3164Thr
p.Ala3164Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9565/16005 9490/15267 3164/5088 chr8 143863764
chr8:143863773 C
C
 T
T
 3 a0080
a0081
a0123
a0080
a0081
a0123
 3 NA18906.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
NA18906.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9481G>A
c.9481G>A
 p.Ala3161Thr
p.Ala3161Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9556/16005 9481/15267 3161/5088 chr8 143863773
chr8:143863866 C
C
 T
T
 1 a0299
a0299
 1 HG01123.hp2
HG01123.hp2
 missense_variant MODERATE c.9388G>A
c.9388G>A
 p.Gly3130Ser
p.Gly3130Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9463/16005 9388/15267 3130/5088 chr8 143863866
chr8:143863875 C
C
 T
T
 3 a0080
a0081
a0100
a0080
a0081
a0100
 3 NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9379G>A
c.9379G>A
 p.Ala3127Thr
p.Ala3127Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9454/16005 9379/15267 3127/5088 chr8 143863875
chr8:143863893 G
G
 A
A
 4 a0075
a0078
a0079
others(1): Show 
a0075
a0078
a0079
a0242
 4 HG00673.hp2
NA18972.hp1
NA18974.hp1
others(1): Show 
HG00673.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 missense_variant MODERATE c.9361C>T
c.9361C>T
 p.Arg3121Trp
p.Arg3121Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9436/16005 9361/15267 3121/5088 chr8 143863893
chr8:143863938 G
G
 A
A
 1 a0071
a0071
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.9316C>T
c.9316C>T
 p.Arg3106Trp
p.Arg3106Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9391/16005 9316/15267 3106/5088 chr8 143863938
chr8:143863944 T
T
 C
C
 2 a0180
a0181
a0180
a0181
 2 NA18994.hp2
NA19057.hp2
NA18994.hp2
NA19057.hp2
 missense_variant MODERATE c.9310A>G
c.9310A>G
 p.Thr3104Ala
p.Thr3104Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9385/16005 9310/15267 3104/5088 chr8 143863944
chr8:143864001 C
C
 T
T
 1 a0237
a0237
 1 HG01255.hp2
HG01255.hp2
 missense_variant MODERATE c.9253G>A
c.9253G>A
 p.Ala3085Thr
p.Ala3085Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9328/16005 9253/15267 3085/5088 chr8 143864001
chr8:143864004 C
C
 CCCTGCTC
others(3187): Show 
CCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC
CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGCCGCACGCAGGGCCTCC
CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCCACAGCGCA
GCTCCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG
CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA
CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG
TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG
CTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA
CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG
ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT
GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT
CCTGGATCTCGCCGCCCACCACGCCGCCGGCCACGGCCTCCTCCACCGAC
AGCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGACGTGTGCAGCTCGGAGGCGGACACC
TGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTC
CTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA
AGTCCAGGGTCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCC
TGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACGCGCGCCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGGCGCGGGCTCCCGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGCCTGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAG
CGTGCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTACGG
GGTCGGTTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGGCAGCACCAGGGCCGTGCCGGGCCGCAGCAGACGCCCTTCCACATGGC
CTGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCACCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCACAACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGCGGCG
GGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGC
TGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCG
CGGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCCTC
CTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGT
CCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG
 1 a0171
a0171
 1 NA18957.hp2
NA18957.hp2
 frameshift_variant&stop_gained HIGH c.9249_9250insCCGCCC
others(3188): Show 
c.9249_9250insCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGG
GGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAG
GAGGCCGAGGAGGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGG
GCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCG
CCGCCGCCCCGCCGCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTG
CAGCCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTTGTGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCGACCTCGTCGCCGTCCTCACCCGGGTC
ATCGAGGAGACGGAGGAGCGGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGGTGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACAGGCCATGTGGAAGGGCGTCTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGC
GCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGC
GGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTA
CAACCGACCCCGTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCT
GGCCAGGCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCGGGAGCCCGCGCC
CCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGG
CCGCCTCCGGGGGGCGCGCGTGCCCGTGTGGGACGTGCTGGCGTCCGGCT
ACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
ACCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGA
GGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCC
TCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAG
CACGCGGCCGGCGCCCTGGGCCTGCCGACCTCGTCGCCGTCCTCACCCGG
GTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCT
GAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCGGGATCCTGGGCCC
CGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGA
CGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGCTGTCGGTGGAGGAGGCCGTGGCCGGCGGCGTGGTGGGCGGCG
AGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACC
GACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGGAGCTGCGCTGTGGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCACCATGGAGGTCAAGGTGGGCCG
CCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACG
TGAGCAGG
 p.Ala3084fs
p.Ala3084fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9324/16005 9249/15267 3083/5088 chr8 143864004
chr8:143864007 T
T
 C
C
 92 a0008
a0009
a0015
others(89): Show 
a0008
a0009
a0015
a0021
a0022
a0023
a0026
a0030
a0033
a0034
a0037
a0038
a0040
a0041
a0043
a0049
a0053
a0054
a0065
a0066
a0067
a0068
a0075
a0078
a0079
a0080
a0081
a0090
a0091
a0095
a0096
a0104
a0105
a0120
a0128
a0130
a0153
a0154
a0155
a0156
a0158
a0159
a0160
a0162
a0163
a0164
a0165
a0202
a0206
a0207
a0208
a0217
a0218
a0219
a0222
a0225
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0244
a0254
a0255
a0257
a0258
a0264
a0265
a0266
a0272
a0273
a0275
a0276
a0277
a0279
a0280
a0282
a0283
a0284
a0286
a0287
a0288
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
 115 HG00323.hp2
HG00408.hp2
HG00597.hp1
others(112): Show 
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp2
HG02559.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02738.hp1
HG02896.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp1
HG03239.hp1
HG03471.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18612.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9247A>G
c.9247A>G
 p.Arg3083Gly
p.Arg3083Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9322/16005 9247/15267 3083/5088 chr8 143864007
chr8:143864024 G
G
 A
A
 2 a0080
a0081
a0080
a0081
 2 NA21309.hp2
homoSapiens_chm13v2.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9230C>T
c.9230C>T
 p.Ala3077Val
p.Ala3077Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9305/16005 9230/15267 3077/5088 chr8 143864024
chr8:143864093 C
C
 T
T
 1 a0131
a0131
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.9161G>A
c.9161G>A
 p.Arg3054His
p.Arg3054His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9236/16005 9161/15267 3054/5088 chr8 143864093
chr8:143864094 G
G
 A
A
 1 a0099
a0099
 1 HG06807.hp2
HG06807.hp2
 missense_variant MODERATE c.9160C>T
c.9160C>T
 p.Arg3054Cys
p.Arg3054Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9235/16005 9160/15267 3054/5088 chr8 143864094
chr8:143864103 C
C
 T
T
 2 a0028
a0142
a0028
a0142
 3 HG02155.hp2
NA18959.hp1
NA19085.hp1
HG02155.hp2
NA18959.hp1
NA19085.hp1
 missense_variant MODERATE c.9151G>A
c.9151G>A
 p.Glu3051Lys
p.Glu3051Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9226/16005 9151/15267 3051/5088 chr8 143864103
chr8:143864105 C
C
 T
T
 1 a0179
a0179
 1 NA19004.hp2
NA19004.hp2
 missense_variant MODERATE c.9149G>A
c.9149G>A
 p.Arg3050Gln
p.Arg3050Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9224/16005 9149/15267 3050/5088 chr8 143864105
chr8:143864110 G
G
 T
T
 7 a0015
a0075
a0078
others(4): Show 
a0015
a0075
a0078
a0079
a0120
a0160
a0225
 9 HG02559.hp1
HG02970.hp2
HG03195.hp1
others(6): Show 
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 missense_variant MODERATE c.9144C>A
c.9144C>A
 p.Asp3048Glu
p.Asp3048Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9219/16005 9144/15267 3048/5088 chr8 143864110
chr8:143864126 C
C
 CCGGCCT
CCGGCCT
 4 a0154
a0155
a0156
others(1): Show 
a0154
a0155
a0156
a0207
 4 HG02129.hp2
HG02523.hp2
NA18943.hp2
others(1): Show 
HG02129.hp2
HG02523.hp2
NA18943.hp2
NA18944.hp1
 conservative_inframe_insertion MODERATE c.9122_9127dupAGGCCG
c.9122_9127dupAGGCCG
 p.Glu3041_Ala3042dup
p.Glu3041_Ala3042dup
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9202/16005 9127/15267 3043/5088 chr8 143864126
chr8:143864144 C
C
 A
A
 2 a0135
a0178
a0135
a0178
 2 HG03704.hp1
HG03704.hp2
HG03704.hp1
HG03704.hp2
 missense_variant MODERATE c.9110G>T
c.9110G>T
 p.Arg3037Leu
p.Arg3037Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9185/16005 9110/15267 3037/5088 chr8 143864144
chr8:143864144 CGGGCCT
CGGGCCT
 C
C
 3 a0019
a0054
a0229
a0019
a0054
a0229
 5 HG01884.hp1
HG02257.hp1
HG02922.hp2
others(2): Show 
HG01884.hp1
HG02257.hp1
HG02922.hp2
HG02976.hp2
NA18997.hp1
 disruptive_inframe_deletion MODERATE c.9104_9109delAGGCCC
c.9104_9109delAGGCCC
 p.Gln3035_Ala3036del
p.Gln3035_Ala3036del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9184/16005 9104/15267 3035/5088 chr8 143864144
chr8:143864150 T
T
 C
C
 1 a0265
a0265
 1 NA18978.hp1
NA18978.hp1
 missense_variant MODERATE c.9104A>G
c.9104A>G
 p.Gln3035Arg
p.Gln3035Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9179/16005 9104/15267 3035/5088 chr8 143864150
chr8:143864187 C
C
 A
A
 1 a0173
a0173
 1 NA18942.hp2
NA18942.hp2
 missense_variant MODERATE c.9067G>T
c.9067G>T
 p.Ala3023Ser
p.Ala3023Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9142/16005 9067/15267 3023/5088 chr8 143864187
chr8:143864197 TTCCACGG
others(1601): Show 
TTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCC
GGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTC
TGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGC
ACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCA
GCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGC
AGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTT
GGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGT
AGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGG
TCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTG
CTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCT
GCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGC
AGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTC
CACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCG
CCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTC
CACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTT
GGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCT
TGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCC
AGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGA
GGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCT
CCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGG
CCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTC
GCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCT
GGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCC
TGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTC
GCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTC
GCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGC
GGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCG
GCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCA
GCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCAC
ACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGC
CGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCT
CGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCG
CCCAGCTCC
 T
T
 2 a0150
a0301
a0150
a0301
 2 HG00639.hp2
HG06807.hp1
HG00639.hp2
HG06807.hp1
 disruptive_inframe_deletion MODERATE c.7449_9056del
c.7449_9056del
 p.Glu2484_Glu3019del
p.Glu2484_Glu3019del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9131/16005 7449/15267 2483/5088 chr8 143864197
chr8:143864292 C
C
 T
T
 1 a0254
a0254
 1 HG01256.hp2
HG01256.hp2
 missense_variant MODERATE c.8962G>A
c.8962G>A
 p.Val2988Ile
p.Val2988Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9037/16005 8962/15267 2988/5088 chr8 143864292
chr8:143864337 C
C
 CGCGCAGG
others(10): Show 
CGCGCAGGGCACAGCGCA
 1 a0238
a0238
 1 NA19054.hp2
NA19054.hp2
 frameshift_variant HIGH c.8900_8916dupTGCGCT
others(11): Show 
c.8900_8916dupTGCGCTGTGCCCTGCGC
 p.Asp2973fs
p.Asp2973fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8991/16005 8916/15267 2972/5088 chr8 143864337
chr8:143864476 G
G
 C
C
 1 a0080
a0080
 1 NA21309.hp2
NA21309.hp2
 missense_variant MODERATE c.8778C>G
c.8778C>G
 p.Asn2926Lys
p.Asn2926Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8853/16005 8778/15267 2926/5088 chr8 143864476
chr8:143864514 C
C
 G
G
 1 a0172
a0172
 1 HG01496.hp2
HG01496.hp2
 missense_variant MODERATE c.8740G>C
c.8740G>C
 p.Asp2914His
p.Asp2914His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8815/16005 8740/15267 2914/5088 chr8 143864514
chr8:143864524 A
A
 ACGGTTCA
others(3203): Show 
ACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACC
ACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGG
GTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCG
TGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTC
TCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCA
GCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCT
GCAGCGTCTTAGTGCCCTGGGCCAGGTCCTGCAGGGTCTCGGGGCCCAGG
ATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCG
GAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGA
GGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCC
AGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTC
CCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGG
TGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTTGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGC
ACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAG
GGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGG
CGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGG
GAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGG
GCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGG
CCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGG
GTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCAC
GTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGC
GGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCT
GGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTG
GGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGC
CCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCG
CGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCC
CGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGC
TCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGC
CCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAG
GTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGT
CGGCCAGGACG
 1 a0269
a0269
 1 HG03491.hp2
HG03491.hp2
 disruptive_inframe_insertion MODERATE c.8729_8730insCGTCCT
others(3204): Show 
c.8729_8730insCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTT
CTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCC
GCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGC
CGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCG
CGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCT
CCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAG
GACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGG
CGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCG
AGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCG
GCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGT
GTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGC
TGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGC
CGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCC
GCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGC
GAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGC
GAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGA
GCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGG
GGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAG
GCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCT
GCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGC
GGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCC
GAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGC
CCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGC
GCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAG
GACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAA
GGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGG
CCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAG
GAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCT
GTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGC
AGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCAC
GGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCAACCC
CGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACT
TCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAG
GGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCT
GCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGG
CAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCC
CTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAG
CGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGC
GCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAG
CTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCG
GGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGC
GTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTG
CCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGA
GGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGA
CCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCC
CGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGC
CGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGG
AGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGC
CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT
CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA
GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTG
GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA
GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG
CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCAGGAC
CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT
CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG
CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG
TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA
GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG
TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG
CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG
GCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGG
AGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATC
GACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGG
CTACTTCGACGAGGAGATGAACCG
 p.Arg2910_Val2911ins
others(3210): Show 
p.Arg2910_Val2911insValLeuAlaAspProSerAspAspThrLys
GlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLe
uArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuA
laGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAla
LeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSe
rValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgA
rgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGlu
LeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaAr
gAlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuA
rgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVal
ProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGl
uGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuT
hrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAla
ArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAl
aGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyG
luGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArg
GlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPh
eGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuS
erGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeu
GlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGl
uGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerA
laSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAsp
LeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVa
lLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProA
laLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMet
TrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGl
nAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerV
alGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLys
LeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGl
yGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgG
luHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIle
AsnProValHisSerHisArgValProValAspValAlaTyrArgArgGl
yTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspT
hrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGln
LeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGl
nLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgC
ysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGly
GlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAs
pArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValG
luGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGln
AlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluAl
aLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgA
laValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAla
ArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAl
aLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProG
lyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGly
ProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGl
nGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuG
lnAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVa
lArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyV
alIleAspProValHisSerHisArgValProValAspValAlaTyrArg
ArgGlyTyrPheAspGluGluMetAsnArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8804/16005 8729/15267 2910/5088 chr8 143864524
chr8:143864555 T
T
 C
C
 141 a0003
a0008
a0009
others(138): Show 
a0003
a0008
a0009
a0011
a0015
a0021
a0022
a0023
a0026
a0029
a0030
a0033
a0034
a0037
a0038
a0040
a0041
a0043
a0049
a0053
a0054
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0072
a0073
a0074
a0075
a0076
a0078
a0079
a0080
a0081
a0082
a0087
a0090
a0091
a0092
a0095
a0096
a0097
a0098
a0100
a0104
a0105
a0106
a0107
a0108
a0109
a0116
a0119
a0120
a0122
a0123
a0128
a0129
a0130
a0132
a0133
a0143
a0144
a0146
a0147
a0153
a0154
a0155
a0156
a0158
a0159
a0160
a0161
a0162
a0163
a0164
a0165
a0166
a0172
a0197
a0198
a0202
a0206
a0207
a0208
a0214
a0217
a0218
a0219
a0222
a0223
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0239
a0242
a0243
a0244
a0246
a0251
a0253
a0254
a0255
a0257
a0258
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0275
a0276
a0277
a0278
a0279
a0280
a0282
a0283
a0284
a0286
a0287
a0288
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
a0306
 173 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(170): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02056.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18968.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.8699A>G
c.8699A>G
 p.Gln2900Arg
p.Gln2900Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8774/16005 8699/15267 2900/5088 chr8 143864555
chr8:143864589 G
G
 A
A
 1 a0223
a0223
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.8665C>T
c.8665C>T
 p.His2889Tyr
p.His2889Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8740/16005 8665/15267 2889/5088 chr8 143864589
chr8:143864712 C
C
 CGGTGTAG
others(6382): Show 
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCACCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCG
CCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGC
GCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCC
TCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCC
CGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGC
CGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCC
ACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCG
CGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCA
GCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCC
CGGTATCTGCTCAGCAGGTCCTGGCACCGGTCCTCGGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGT
GTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCT
CGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCATCGCTGGGGTCGGCC
AGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTC
CACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGA
TCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTC
TGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTA
GCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGC
CCCCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCA
CGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGG
GCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCAT
CTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGA
TGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACC
TCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCC
CAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGC
CGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGG
GTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTG
GGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGA
CGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCC
ATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGTGGGCGGCGGCGGTGGC
GGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGC
GCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCG
CGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTC
CTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCC
CCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAG
CCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCC
CACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGC
GCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCC
AGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGC
CCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGACACCTCGCGGTA
GAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGC
CTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGC
TGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGGCAGCATGTAGAGCCCGG
TGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTC
TCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGC
CAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCAGTAGGCCACGT
CCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCG
ATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTT
CTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGT
AGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCG
CCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCG
CACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCA
GGGCCATGCCGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCA
TCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCG
ATGCAGCTGGTGCCCTCCAGGTAGTGCTTGACCGAGTCCATCTCCGTCAC
CTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGC
CCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGG
CCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGATGACCCG
GGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCT
GGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGG
ACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTC
CATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGGCGGCGGTG
GCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGCGGCCCCGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGC
CAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCG
CCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGG
TAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGA
GCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCA
GCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCG
GTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTT
CTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGG
CCAGGACACGGTTCATCTCCTCGTCGAAGTACCCGCGCCGGTAGGCCACG
TCCACGGGCACGCGGTGGCTGTGCGACGGGGTCGATGACGCCGCCCGTGG
CGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCC
TTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGT
GTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGC
CGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTG
CGCACGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACC
AGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCT
CATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCG
CGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTC
ACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGG
GCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCA
GGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACC
CGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGTGTG
CTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGA
GGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACC
TCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGAGCGGCGG
CGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCC
GAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCA
GGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGA
TGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAG
CCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGA
CGCCAGCACGTCCCACACGGGCACTGCGCGCCCCCGGAGGCGGCCCACCT
TGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGC
TCCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAG
CGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGT
ATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAG
AGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGG
CGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGT
GCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCC
GGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTG
CGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGA
CACGGTTCATCTCCTCGTCGAAGTAGCCGCACTGGTAGGCCACGTCCACG
GGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTG
GGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTTCTTCTGCA
TGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTT
 1 a0128
a0128
 1 HG02896.hp1
HG02896.hp1
 frameshift_variant&stop_gained HIGH c.8541_8542insAACCCC
others(6383): Show 
c.8541_8542insAACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAG
GCCATGCAGAAGAACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGA
GGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCG
TGCCCGTGGACGTGGCCTACCAGTGCGGCTACTTCGACGAGGAGATGAAC
CGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAA
CACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCG
ACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCC
GTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGT
GACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGC
TCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGC
AGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCAC
CTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCG
GGGAGCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAG
GTCAAGGTGGGCCGCCTCCGGGGGCGCGCAGTGCCCGTGTGGGACGTGCT
GGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGT
TTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCC
ATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGA
CGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCG
ACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAG
GCCGCCGCCGCTCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACACGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCG
TGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTG
GGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGG
CTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGC
AGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAG
ATCGCCACGGGCGGCGTCATCGACCCCGTCGCACAGCCACCGCGTGCCCG
TGGACGTGGCCTACCGGCGCGGGTACTTCGACGAGGAGATGAACCGTGTC
CTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCA
CGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGG
ACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCAC
CAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCC
AGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCT
TCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATAC
CGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCT
GCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCC
CGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAG
GTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTC
CGGCTACGTGAGCGGGGCCGCCGGGAGGAGCTGCTGGCCGAGTTTGGCTC
GGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCG
AGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGG
CGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGG
GCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCG
CCGCCACCGCCGCCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCAC
CATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGG
ACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTG
GCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCT
CACCCGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCC
GCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATC
CTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCA
GGAGGTGACGGAGATGGACTCGGTCAAGCACTACCTGGAGGGCACCAGCT
GCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAG
AAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCGGCATG
GCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCC
CGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGG
TGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACC
GGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCAT
GCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCC
AGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCC
GTGGACGTGGCCTACTGGCGCGGCTACTTCGACGAGGAGATGAACCGTGT
CCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGC
ACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCG
GACACCGGGCTCTACATGCTGCCAGCTGGCAGGCCGGGGCTCCGCCGTGC
ACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACG
CCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCT
CTTCTACCGCGAGGTGTCGAGGACCGGCGCCAGGACCTGCTGAGCAGATA
CCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGC
TGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGC
CCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAA
GGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGT
CCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGC
TCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCAT
CGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCT
GGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCG
GGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGC
CGCCGCCACCGCCGCCGCCCACCGCCAGGAGCAGACCCTGCGTGATGCCA
CCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGG
GACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCT
GGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCC
TCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTC
CGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGAT
CCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGC
AGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGC
TGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGA
GAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCA
CGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGAC
CCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGT
GGGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCAC
CGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCA
TGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCC
CAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCC
CGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTG
TCCTGGCCGACCCCAGCGATGACACCAAGGGCTTCTTCGACCCCAACACG
CACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCC
GGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGC
ACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACG
CCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCT
CTTCTACCGCGAGGTGTCCGAGGACCGGTGCCAGGACCTGCTGAGCAGAT
ACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCG
CTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAG
GTGCAGCGCGGGCAGTTCCAGGGGTGGCCGGTCTCCGTGTGGGACGTCCT
CTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGC
ACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGG
GTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCT
GAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCC
CCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTG
ACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGC
GGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGA
GCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACC
 p.Asp2848fs
p.Asp2848fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8616/16005 8541/15267 2847/5088 chr8 143864712
chr8:143864727 C
C
 T
T
 1 a0177
a0177
 1 NA18974.hp2
NA18974.hp2
 missense_variant MODERATE c.8527G>A
c.8527G>A
 p.Val2843Ile
p.Val2843Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8602/16005 8527/15267 2843/5088 chr8 143864727
chr8:143864780 G
G
 A
A
 1 a0123
a0123
 1 NA18906.hp1
NA18906.hp1
 missense_variant MODERATE c.8474C>T
c.8474C>T
 p.Ala2825Val
p.Ala2825Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8549/16005 8474/15267 2825/5088 chr8 143864780
chr8:143864793 C
C
 T
T
 1 a0149
a0149
 1 HG02486.hp2
HG02486.hp2
 missense_variant MODERATE c.8461G>A
c.8461G>A
 p.Glu2821Lys
p.Glu2821Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8536/16005 8461/15267 2821/5088 chr8 143864793
chr8:143864816 C
C
 T
T
 1 a0068
a0068
 1 HG02717.hp1
HG02717.hp1
 missense_variant MODERATE c.8438G>A
c.8438G>A
 p.Arg2813His
p.Arg2813His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8513/16005 8438/15267 2813/5088 chr8 143864816
chr8:143864882 C
C
 T
T
 4 a0015
a0120
a0160
others(1): Show 
a0015
a0120
a0160
a0225
 6 HG02559.hp1
HG02970.hp2
HG03195.hp1
others(3): Show 
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 missense_variant MODERATE c.8372G>A
c.8372G>A
 p.Arg2791Gln
p.Arg2791Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8447/16005 8372/15267 2791/5088 chr8 143864882
chr8:143864930 C
C
 T
T
 1 a0176
a0176
 1 HG02135.hp1
HG02135.hp1
 missense_variant MODERATE c.8324G>A
c.8324G>A
 p.Arg2775His
p.Arg2775His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8399/16005 8324/15267 2775/5088 chr8 143864930
chr8:143864955 C
C
 G
G
 1 a0055
a0055
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.8299G>C
c.8299G>C
 p.Val2767Leu
p.Val2767Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8374/16005 8299/15267 2767/5088 chr8 143864955
chr8:143865000 C
C
 CCGAGTCC
others(1586): Show 
CCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGG
TCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGC
GGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCT
CCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCAGGCAGGCCC
AGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCT
CAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGA
ACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGG
CGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTC
TCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCT
CCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCC
TCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAA
GTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCC
CGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCC
CGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCG
GGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCT
GGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTC
AGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGA
CACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGA
GGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGC
TCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCAT
GTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGT
ACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCG
CTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCG
GTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGC
CGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACG
ATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTA
GGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCT
GGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGC
CTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTC
CAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCT
GGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACC
AGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGAT
 1 a0011
a0011
 3 HG02886.hp1
HG02965.hp1
HG02970.hp1
HG02886.hp1
HG02965.hp1
HG02970.hp1
 conservative_inframe_insertion MODERATE c.8253_8254insATCAAG
others(1587): Show 
c.8253_8254insATCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCG
GGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAG
CATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGG
TGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGC
AACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
CGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACA
CCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAG
GACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGC
CACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACG
TGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCC
GACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAA
CCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCG
GGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTG
AGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTC
GGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACC
GCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCG
GGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGC
CCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCC
CAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGC
CGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTA
CGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGA
CCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAG
GCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGG
CCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCT
CCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCC
GCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCG
CGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCT
CGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCC
GGCGCCCTGGGCCTGCCTGACCTCGTCGCCGTCCTCACCCGGGTCATCGA
GGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCC
AGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACC
CTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGAT
GGACTCG
 p.Ser2751_Val2752ins
others(1593): Show 
p.Ser2751_Val2752insIleLysArgTyrLeuGluGlyThrSerCys
IleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLy
sMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrA
laLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspPro
ValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVa
lGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrG
lyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMet
GlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGl
nIleAlaThrGlyGlyValIleAspProValHisSerHisArgValProV
alAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgVal
LeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHi
sGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProA
spThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHis
GlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPr
oGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuP
heTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyr
ArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLe
uLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerP
roArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLys
ValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSe
rGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlyS
erGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIle
GluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTr
pArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerG
lyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSer
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8328/16005 8253/15267 2751/5088 chr8 143865000
chr8:143865053 C
C
 T
T
 2 a0174
a0175
a0174
a0175
 2 HG00735.hp2
HG01243.hp1
HG00735.hp2
HG01243.hp1
 missense_variant MODERATE c.8201G>A
c.8201G>A
 p.Arg2734Gln
p.Arg2734Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8276/16005 8201/15267 2734/5088 chr8 143865053
chr8:143865093 C
C
 T
T
 4 a0105
a0159
a0264
others(1): Show 
a0105
a0159
a0264
a0265
 4 NA18978.hp1
NA18990.hp1
NA19002.hp2
others(1): Show 
NA18978.hp1
NA18990.hp1
NA19002.hp2
NA19055.hp2
 missense_variant MODERATE c.8161G>A
c.8161G>A
 p.Glu2721Lys
p.Glu2721Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8236/16005 8161/15267 2721/5088 chr8 143865093
chr8:143865102 A
A
 T
T
 1 a0201
a0201
 1 NA19002.hp1
NA19002.hp1
 missense_variant MODERATE c.8152T>A
c.8152T>A
 p.Ser2718Thr
p.Ser2718Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8227/16005 8152/15267 2718/5088 chr8 143865102
chr8:143865111 G
G
 A
A
 1 a0202
a0202
 1 NA18986.hp1
NA18986.hp1
 missense_variant MODERATE c.8143C>T
c.8143C>T
 p.Arg2715Cys
p.Arg2715Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8218/16005 8143/15267 2715/5088 chr8 143865111
chr8:143865158 T
T
 G
G
 31 a0008
a0009
a0014
others(28): Show 
a0008
a0009
a0014
a0022
a0038
a0043
a0044
a0045
a0049
a0091
a0094
a0096
a0206
a0210
a0215
a0230
a0232
a0235
a0236
a0244
a0254
a0255
a0256
a0258
a0272
a0274
a0275
a0276
a0277
a0279
a0280
 45 HG00099.hp2
HG00323.hp2
HG00642.hp2
others(42): Show 
HG00099.hp2
HG00323.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02293.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp2
HG03710.hp1
HG03927.hp2
HG04199.hp2
NA20752.hp2
NA20805.hp2
 missense_variant MODERATE c.8096A>C
c.8096A>C
 p.Glu2699Ala
p.Glu2699Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8171/16005 8096/15267 2699/5088 chr8 143865158
chr8:143865180 C
C
 T
T
 1 a0233
a0233
 1 HG03710.hp2
HG03710.hp2
 missense_variant MODERATE c.8074G>A
c.8074G>A
 p.Ala2692Thr
p.Ala2692Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8149/16005 8074/15267 2692/5088 chr8 143865180
chr8:143865239 C
C
 T
T
 1 a0251
a0251
 1 HG02027.hp1
HG02027.hp1
 missense_variant MODERATE c.8015G>A
c.8015G>A
 p.Arg2672His
p.Arg2672His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8090/16005 8015/15267 2672/5088 chr8 143865239
chr8:143865308 C
C
 T
T
 1 a0173
a0173
 1 NA18942.hp2
NA18942.hp2
 missense_variant MODERATE c.7946G>A
c.7946G>A
 p.Arg2649His
p.Arg2649His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8021/16005 7946/15267 2649/5088 chr8 143865308
chr8:143865333 G
G
 A
A
 1 a0100
a0100
 1 NA21309.hp1
NA21309.hp1
 missense_variant MODERATE c.7921C>T
c.7921C>T
 p.Arg2641Cys
p.Arg2641Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7996/16005 7921/15267 2641/5088 chr8 143865333
chr8:143865354 GGGC
GGGC
 G
G
 85 a0007
a0008
a0009
others(82): Show 
a0007
a0008
a0009
a0014
a0021
a0022
a0023
a0026
a0030
a0033
a0034
a0037
a0038
a0040
a0043
a0044
a0045
a0049
a0053
a0074
a0089
a0090
a0091
a0094
a0095
a0105
a0154
a0155
a0156
a0157
a0158
a0159
a0162
a0163
a0164
a0165
a0206
a0207
a0208
a0210
a0215
a0217
a0218
a0219
a0230
a0232
a0233
a0235
a0236
a0238
a0244
a0253
a0254
a0255
a0256
a0258
a0260
a0261
a0262
a0264
a0265
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0282
a0283
a0284
a0286
a0287
a0288
a0290
a0291
a0293
a0295
a0296
a0302
a0303
a0304
a0306
 112 HG00099.hp2
HG00323.hp2
HG00597.hp1
others(109): Show 
HG00099.hp2
HG00323.hp2
HG00597.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19080.hp1
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 conservative_inframe_deletion MODERATE c.7897_7899delGCC
c.7897_7899delGCC
 p.Ala2633del
p.Ala2633del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7974/16005 7897/15267 2633/5088 chr8 143865354
chr8:143865354 GGGCGGC
GGGCGGC
 G
G
 146 a0001
a0002
a0004
others(143): Show 
a0001
a0002
a0004
a0012
a0016
a0017
a0018
a0019
a0024
a0025
a0028
a0029
a0031
a0032
a0036
a0041
a0048
a0050
a0052
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0065
a0066
a0067
a0071
a0072
a0077
a0080
a0081
a0083
a0084
a0085
a0086
a0087
a0098
a0099
a0100
a0101
a0102
a0103
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0116
a0117
a0118
a0119
a0121
a0122
a0124
a0125
a0126
a0127
a0130
a0131
a0132
a0133
a0135
a0136
a0137
a0138
a0139
a0140
a0141
a0142
a0143
a0144
a0145
a0146
a0147
a0148
a0149
a0153
a0161
a0167
a0168
a0173
a0174
a0175
a0176
a0177
a0178
a0179
a0180
a0181
a0182
a0183
a0184
a0185
a0186
a0187
a0188
a0189
a0190
a0191
a0192
a0193
a0194
a0195
a0196
a0197
a0198
a0199
a0200
a0201
a0205
a0209
a0212
a0213
a0214
a0220
a0221
a0222
a0223
a0224
a0226
a0227
a0231
a0234
a0237
a0243
a0246
a0247
a0249
a0250
a0257
a0266
a0269
a0270
a0271
a0297
a0298
a0299
a0300
 209 HG00140.hp1
HG00140.hp2
HG00280.hp1
others(206): Show 
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00408.hp2
HG00423.hp2
HG00544.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00673.hp1
HG00733.hp2
HG00735.hp2
HG01069.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01346.hp2
HG01361.hp1
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG02004.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02109.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02155.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp2
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03704.hp1
HG03704.hp2
HG03927.hp1
HG03942.hp2
HG04199.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18944.hp2
NA18945.hp1
NA18949.hp1
NA18949.hp2
NA18950.hp2
NA18951.hp1
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18973.hp2
NA18974.hp2
NA18975.hp1
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18982.hp2
NA18983.hp1
NA18986.hp2
NA18990.hp2
NA18991.hp1
NA18993.hp1
NA18993.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp2
NA19066.hp1
NA19066.hp2
NA19074.hp1
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp2
NA19081.hp1
NA19082.hp1
NA19082.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp1
NA19090.hp2
NA19091.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 conservative_inframe_deletion MODERATE c.7894_7899delGCCGCC
c.7894_7899delGCCGCC
 p.Ala2632_Ala2633del
p.Ala2632_Ala2633del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7974/16005 7894/15267 2632/5088 chr8 143865354
chr8:143865354 GGGCGGCG
others(5): Show 
GGGCGGCGGCGGC
 G
G
 15 a0015
a0055
a0073
others(12): Show 
a0015
a0055
a0073
a0075
a0078
a0079
a0092
a0120
a0128
a0129
a0160
a0225
a0228
a0242
a0305
 17 HG00408.hp1
HG00423.hp1
HG00673.hp2
others(14): Show 
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG01106.hp2
HG02109.hp1
HG02559.hp1
HG02896.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA18982.hp1
NA19030.hp2
NA19084.hp2
 conservative_inframe_deletion MODERATE c.7888_7899delGCCGCC
others(6): Show 
c.7888_7899delGCCGCCGCCGCC
 p.Ala2630_Ala2633del
p.Ala2630_Ala2633del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7974/16005 7888/15267 2630/5088 chr8 143865354
chr8:143865354 GGGCGGCG
others(8): Show 
GGGCGGCGGCGGCGGC
 G
G
 24 a0003
a0010
a0011
others(21): Show 
a0003
a0010
a0011
a0013
a0020
a0035
a0054
a0068
a0069
a0070
a0076
a0082
a0097
a0104
a0115
a0123
a0151
a0166
a0202
a0203
a0229
a0239
a0251
a0267
 39 HG00323.hp1
HG00544.hp1
HG00609.hp2
others(36): Show 
HG00323.hp1
HG00544.hp1
HG00609.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02027.hp1
HG02027.hp2
HG02258.hp2
HG02647.hp1
HG02717.hp1
HG02886.hp1
HG02886.hp2
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp2
HG03942.hp1
HG04184.hp2
NA18612.hp1
NA18906.hp1
NA18947.hp1
NA18950.hp1
NA18956.hp2
NA18957.hp1
NA18973.hp1
NA18986.hp1
NA18995.hp2
NA18997.hp1
NA19000.hp1
NA19043.hp1
 conservative_inframe_deletion MODERATE c.7885_7899delGCCGCC
others(9): Show 
c.7885_7899delGCCGCCGCCGCCGCC
 p.Ala2629_Ala2633del
p.Ala2629_Ala2633del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7974/16005 7885/15267 2629/5088 chr8 143865354
chr8:143865360 C
C
 CGGCGGCG
others(4784): Show 
CGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT
CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC
CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT
CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG
TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT
GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC
GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG
GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGTCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGC
TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCACCGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGTGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCA
AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC
CTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC
CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC
GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCACCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTG
GGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCG
GGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCG
GCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAG
GGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCTGCTCA
CGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGG
CGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTC
TGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCT
GGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCTTCCACGGTCAGCGTG
CCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTC
GCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGC
CCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCG
CTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAG
CCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGA
GGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGG
TCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCTGGTAGGC
CACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCG
TGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGG
TCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTC
GGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCT
CGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGG
TTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAG
CACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGA
TGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACG
CCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTC
CGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCT
CGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGC
CTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCGGTCTCCTCGAT
GACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCG
CGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAG
AAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTG
CACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
 1 a0248
a0248
 1 NA18979.hp2
NA18979.hp2
 conservative_inframe_insertion MODERATE c.7893_7894insCGCCGC
others(4785): Show 
c.7893_7894insCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCAGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
TGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGA
GATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCG
ACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGAC
CTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCAC
GGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGG
CCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGAC
CCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCT
CACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGC
TCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGC
GAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGG
CGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCG
AGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGC
ACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCA
GGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAG
ACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGC
CTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGT
GAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCC
TGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCC
GAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCC
GCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCC
AGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCACC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGTGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
ACACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCGCC
 p.Ala2631_Ala2632ins
others(4791): Show 
p.Ala2631_Ala2632insArgArgGlnGluGlnThrLeuArgAspAla
ThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTr
pAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuL
euAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVal
LeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPh
eArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyI
leLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeu
GlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSe
rCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnG
luLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGly
ThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAs
pProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyV
alValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaVal
ThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAl
aMetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluA
laGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgVal
ProValAspValAlaTyrGlnArgGlyTyrPheAspGluGluMetAsnAr
gValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnT
hrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAsp
ProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVa
lHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValT
hrProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeu
LeuPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerAr
gTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrS
erLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGly
SerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluVa
lLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuA
laSerGlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPhe
GlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIl
eIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspA
laTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAsp
SerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAl
aAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetG
luValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspVal
LeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGl
nHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrA
rgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGly
LeuArgCysGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGl
yProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluV
alThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIle
AlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMe
tSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaL
euValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProVal
ArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGl
yGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyT
yrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProA
rgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysVal
GlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGl
yTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerG
lyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGlu
GluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpAr
gGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyA
rgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAla
AlaThrAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgCysGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaAspThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7968/16005 7893/15267 2631/5088 chr8 143865360
chr8:143865366 C
C
 T
T
 1 a0025
a0025
 2 HG03041.hp2
NA19043.hp2
HG03041.hp2
NA19043.hp2
 missense_variant MODERATE c.7888G>A
c.7888G>A
 p.Ala2630Thr
p.Ala2630Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7963/16005 7888/15267 2630/5088 chr8 143865366
chr8:143865372 C
C
 T
T
 4 a0061
a0062
a0122
others(1): Show 
a0061
a0062
a0122
a0133
 4 HG02280.hp2
HG02630.hp2
HG02717.hp2
others(1): Show 
HG02280.hp2
HG02630.hp2
HG02717.hp2
NA18522.hp2
 missense_variant MODERATE c.7882G>A
c.7882G>A
 p.Ala2628Thr
p.Ala2628Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7957/16005 7882/15267 2628/5088 chr8 143865372
chr8:143865381 C
C
 T
T
 5 a0003
a0076
a0082
others(2): Show 
a0003
a0076
a0082
a0166
a0267
 11 HG00323.hp1
HG00733.hp1
HG00738.hp2
others(8): Show 
HG00323.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.7873G>A
c.7873G>A
 p.Ala2625Thr
p.Ala2625Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7948/16005 7873/15267 2625/5088 chr8 143865381
chr8:143865470 G
G
 A
A
 1 a0055
a0055
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.7784C>T
c.7784C>T
 p.Pro2595Leu
p.Pro2595Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7859/16005 7784/15267 2595/5088 chr8 143865470
chr8:143865483 C
C
 T
T
 5 a0003
a0076
a0082
others(2): Show 
a0003
a0076
a0082
a0166
a0267
 11 HG00323.hp1
HG00733.hp1
HG00738.hp2
others(8): Show 
HG00323.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.7771G>A
c.7771G>A
 p.Ala2591Thr
p.Ala2591Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7846/16005 7771/15267 2591/5088 chr8 143865483
chr8:143865497 G
G
 A
A
 7 a0100
a0110
a0111
others(4): Show 
a0100
a0110
a0111
a0112
a0113
a0121
a0209
 7 HG02630.hp1
HG02723.hp2
HG03130.hp2
others(4): Show 
HG02630.hp1
HG02723.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
NA21309.hp1
 missense_variant MODERATE c.7757C>T
c.7757C>T
 p.Pro2586Leu
p.Pro2586Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7832/16005 7757/15267 2586/5088 chr8 143865497
chr8:143865501 G
G
 A
A
 3 a0080
a0081
a0243
a0080
a0081
a0243
 3 HG00621.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
HG00621.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7753C>T
c.7753C>T
 p.Arg2585Trp
p.Arg2585Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7828/16005 7753/15267 2585/5088 chr8 143865501
chr8:143865533 A
A
 G
G
 1 a0073
a0073
 1 HG02109.hp1
HG02109.hp1
 missense_variant MODERATE c.7721T>C
c.7721T>C
 p.Ile2574Thr
p.Ile2574Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7796/16005 7721/15267 2574/5088 chr8 143865533
chr8:143865546 G
G
 A
A
 1 a0293
a0293
 1 NA20905.hp2
NA20905.hp2
 missense_variant MODERATE c.7708C>T
c.7708C>T
 p.Arg2570Trp
p.Arg2570Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7783/16005 7708/15267 2570/5088 chr8 143865546
chr8:143865557 G
G
 A
A
 13 a0015
a0073
a0075
others(10): Show 
a0015
a0073
a0075
a0078
a0079
a0092
a0120
a0129
a0160
a0223
a0225
a0228
a0242
 15 HG00408.hp1
HG00423.hp1
HG00673.hp2
others(12): Show 
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG01106.hp2
HG02109.hp1
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19030.hp1
NA19084.hp2
 missense_variant MODERATE c.7697C>T
c.7697C>T
 p.Ala2566Val
p.Ala2566Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7772/16005 7697/15267 2566/5088 chr8 143865557
chr8:143865609 C
C
 A
A
 1 a0205
a0205
 1 NA19082.hp2
NA19082.hp2
 missense_variant MODERATE c.7645G>T
c.7645G>T
 p.Ala2549Ser
p.Ala2549Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7720/16005 7645/15267 2549/5088 chr8 143865609
chr8:143865615 T
T
 C
C
 146 a0003
a0007
a0008
others(143): Show 
a0003
a0007
a0008
a0009
a0014
a0015
a0021
a0022
a0023
a0026
a0030
a0033
a0034
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0054
a0055
a0065
a0066
a0067
a0068
a0072
a0073
a0074
a0075
a0076
a0078
a0079
a0080
a0081
a0082
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0098
a0105
a0106
a0107
a0108
a0109
a0116
a0120
a0129
a0130
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0160
a0162
a0163
a0164
a0165
a0166
a0206
a0207
a0208
a0210
a0211
a0215
a0216
a0217
a0218
a0219
a0222
a0223
a0225
a0228
a0230
a0232
a0233
a0235
a0236
a0238
a0240
a0241
a0242
a0243
a0244
a0246
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0269
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
a0306
 186 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(183): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7639A>G
c.7639A>G
 p.Arg2547Gly
p.Arg2547Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7714/16005 7639/15267 2547/5088 chr8 143865615
chr8:143865632 G
G
 A
A
 5 a0003
a0076
a0082
others(2): Show 
a0003
a0076
a0082
a0166
a0267
 11 HG00323.hp1
HG00733.hp1
HG00738.hp2
others(8): Show 
HG00323.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.7622C>T
c.7622C>T
 p.Ala2541Val
p.Ala2541Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7697/16005 7622/15267 2541/5088 chr8 143865632
chr8:143865666 G
G
 A
A
 1 a0160
a0160
 1 HG02970.hp2
HG02970.hp2
 missense_variant MODERATE c.7588C>T
c.7588C>T
 p.Arg2530Trp
p.Arg2530Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7663/16005 7588/15267 2530/5088 chr8 143865666
chr8:143865701 C
C
 T
T
 1 a0070
a0070
 1 HG03471.hp2
HG03471.hp2
 missense_variant MODERATE c.7553G>A
c.7553G>A
 p.Arg2518His
p.Arg2518His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7628/16005 7553/15267 2518/5088 chr8 143865701
chr8:143865718 G
G
 GTCTGGGC
others(3203): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT
GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC
CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC
GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG
CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG
GCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC
GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG
CCTCCCGGGGT
 1 a0239
a0239
 1 NA18957.hp1
NA18957.hp1
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(3204): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(3210): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe
uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(1599): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCA
GCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGG
TAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAG
GACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCA
TCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGG
GTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTG
GCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCG
CGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCG
GCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGA
GGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGC
GCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCG
GCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCC
CTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTG
GCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGG
GCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGG
CAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGG
CCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGC
CCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTC
CCGGGGT
 1 a0253
a0253
 1 HG02055.hp1
HG02055.hp1
 frameshift_variant HIGH c.7535_7536insACCCCG
others(1600): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCG
CGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGC
GCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTT
CCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGC
TGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCAC
CGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGAT
GAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACC
CCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTG
CCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTC
CGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCC
GCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGG
GAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCT
GAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCC
TCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAG
GCCGGGAGCCCGCGCCCAGA
 p.Asp2512fs
p.Asp2512fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(1598): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCGC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGT
 1 a0273
a0273
 1 HG01361.hp2
HG01361.hp2
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(1599): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(1605): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(6410): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCGC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGTTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGC
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG
GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG
CCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC
TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG
GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT
GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCA
CAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAG
CTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCA
GCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTG
GTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTA
GCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGT
CGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGC
TCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTG
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGT
 1 a0278
a0278
 1 HG01106.hp1
HG01106.hp1
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(6411): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC
CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC
GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC
GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC
CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG
CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC
ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC
ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT
GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC
CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG
CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG
CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG
TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC
GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC
CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC
GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC
AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA
GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT
TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC
TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG
GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG
ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC
GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA
CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG
CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG
GCCGAGGCCGGGAGCCCGCGCCCAGAACCCCGGGAGGCCCTGCGTGCGGC
CACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGT
GGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTG
CTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCG
GCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGC
AGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGA
GGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGA
GACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGC
AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG
CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC
CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC
CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGG
CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA
GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC
AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC
TACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGA
CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG
GCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC
ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA
GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT
CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG
ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG
CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG
TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC
GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG
CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC
GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA
GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT
GCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCG
TCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGC
CAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCT
GGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGG
CCGAGGCCGAGGCCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(6417): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe
uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr
gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP
roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu
GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh
rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA
rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla
GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl
uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr
PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAlaGluAlaGlySerProArgProGluProArgGluAlaLeu
ArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaVa
lProValTrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgG
luGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeu
ThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAl
aArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProA
laGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGly
GluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgAr
gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP
heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu
SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe
uGlyLeuProAspLeuValAlaValLeuThrArgValIleAlaGluThrG
luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer
AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs
pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV
alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro
AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe
tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG
lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer
ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy
sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG
lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg
GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl
eAspProValHisSerHisArgValProValAspValAlaTyrArgArgG
lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp
ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl
nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG
lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg
CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl
yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA
spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal
GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl
nAlaArgAlaGluAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(4805): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT
CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC
CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT
CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG
TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT
GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC
GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG
GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGC
TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTAACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG
GGCCTCCCGGGGT
 1 a0257
a0257
 1 HG04228.hp1
HG04228.hp1
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(4806): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTTACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC
CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC
GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC
GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC
CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG
CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC
ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC
ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT
GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC
CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG
CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG
CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG
TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC
GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC
CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC
GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC
AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA
GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT
TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC
TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG
GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG
ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC
GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA
CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG
CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG
GCCGAGGCCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(4812): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe
uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr
gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP
roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu
GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh
rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA
rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla
GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl
uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr
PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(4805): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCT
CGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTC
CCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCT
CCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAG
TCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCT
GCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCC
GGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGG
GGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTG
GGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCA
GCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGAC
ACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAG
GGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCT
CCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATG
TAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTA
CGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGTCGTCGC
TGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGG
TAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCC
GCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGA
TGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAG
GGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTG
GATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCC
TCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCC
AGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTG
GTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCA
GGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCC
ATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAG
GGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCT
GGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCC
TCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCC
GGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACG
AGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCG
CGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGC
GGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGC
CCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCT
GGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGG
GGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGG
GCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCG
GCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCG
CCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCT
CCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGG
GCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCAC
GGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCT
CGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCC
TGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCG
CAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCA
GCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGC
ACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTC
GTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGC
GCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATG
ACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCG
GACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGG
TGTAGGGGTCGGTGTAGCCGGTAACGGCGCGCTCGGCCGACAGCAGCTTC
TCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGA
CAGCCTCAGGTTGCGCACGGGGTCGATGATGAAGCCGGTGGCCGCCTGCG
CCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATG
GCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGG
CACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCG
AGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCC
CGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGA
CACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCG
TCTCCGCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGG
GCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAG
GTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACT
GCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGG
CGGGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAG
CGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG
GGCCTCCCGGGGT
 1 a0153
a0153
 1 HG01243.hp2
HG01243.hp2
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(4806): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGCGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCATC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTTACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGTTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCA
CCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGG
GACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGGAGGAGCTGCT
GGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGC
TGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAG
CTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGG
GGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGA
CCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACC
CTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCC
GGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCC
GAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGAC
CTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAG
CAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGC
ACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGC
ACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCT
GGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGC
CCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTG
CTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGG
CTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCG
TGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCC
GAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTC
CCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCC
GCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCAC
AGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGA
GGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCT
TCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGC
TGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCG
GGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCG
ACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCC
GTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGA
CCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCG
CCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAG
GCCGAGGCCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(4812): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleAlaGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheIleIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProAspProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe
uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgProAspProArgGluAlaLeuAr
gAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArgAlaValP
roValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAlaArgGlu
GluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuTh
rArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaA
rgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAla
GlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGl
uGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnG
luGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGln
GlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGl
uAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyL
euProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGlu
ArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSe
rGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuA
laGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLys
ArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLy
sAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpL
ysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAla
AlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGl
uGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuL
euSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGln
GlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHi
sGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspP
roValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyr
PheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLy
sGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuL
euArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeu
AlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAl
aLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnS
erValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArg
ArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGl
uLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaA
rgAlaGluAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(1598): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGT
 1 a0306
a0306
 1 NA18952.hp2
NA18952.hp2
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(1599): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(1605): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 GTCTGGGC
others(3203): Show 
GTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGG
CCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGC
GTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACAC
CTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGG
CGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCC
TCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTA
GAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACG
TGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTG
GGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTA
GGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGC
CCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATG
AGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGG
GTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGA
TCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTC
AGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAG
CAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGT
AGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGG
ACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCAT
CTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGG
TCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGG
CGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTC
GATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGG
CCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAG
GAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCG
CTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGG
CGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCC
TCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGG
CTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGG
CCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGC
AAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGC
CCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCC
CCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCC
CGGGGTTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGC
CTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGG
TCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCG
GACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTG
GAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCA
GCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGC
ATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCAC
GTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGT
CGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGC
CGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGAC
GCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGA
CGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTG
TAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTC
CTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACA
GCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCC
TCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGC
CTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCA
CCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAG
TCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCG
CAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACA
CCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTC
TCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGC
GCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGT
ACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGC
CCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCG
GGCGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCT
GGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGC
CCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCC
GGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCG
CGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGG
GCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGC
GCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGG
CCTCCCGGGGT
 1 a0158
a0158
 1 NA19085.hp2
NA19085.hp2
 disruptive_inframe_insertion MODERATE c.7535_7536insACCCCG
others(3204): Show 
c.7535_7536insACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGT
CAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGG
CGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTT
GGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCAT
CATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACG
CCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGAC
TCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGC
CGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTG
ATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCC
GTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGA
GCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCG
CCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTG
TCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTC
CGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGA
CGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGC
ACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCG
CCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGC
CCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTC
ATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGC
GGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCG
CCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTC
CAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCT
GGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACC
GCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATG
AACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCC
CAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGC
CCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCC
GCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCG
CGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGG
AGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTG
AGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCT
CACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGG
CCGGGAGCCCGCGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATG
GAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGT
GCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCG
AGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACC
GCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCA
GGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACG
GCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAG
GAGGCCGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCT
GCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGG
TCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGA
GACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCT
CGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCA
AGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCAC
ACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCAC
TAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGG
AGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCC
GGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCT
GCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCT
TCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTG
GCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGA
GCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAGATCTCCC
TCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGC
CTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAG
CCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGG
AGATGAACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTC
GACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTG
CGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGG
GCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGAC
GCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGT
CTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACC
TGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCC
ACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGC
CGAGGCCGGGAGCCCGCGCCCAGA
 p.Pro2511_Asp2512ins
others(3210): Show 
p.Pro2511_Asp2512insGluProArgGluAlaLeuArgAlaAlaThr
MetGluValLysValGlyArgLeuArgGlyArgAlaValProValTrpAs
pValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuA
laGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeu
ThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLe
uGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyA
spGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThr
GlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnTh
rLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGlyArgP
roValSerValTrpAspValLeuPheSerSerTyrLeuSerGluAlaArg
ArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAs
pLeuValAlaValLeuThrArgValIleGluGluThrGluGluArgLeuS
erLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerGluLeu
HisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAlaGlnGl
yThrLysThrLeuGlnGluValThrGluMetAspSerValLysArgTyrL
euGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysAspGln
ProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLysGlyVa
lLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrG
lyPheValIleAspProValArgAsnLeuArgLeuSerValGluGluAla
ValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeuSerAl
aGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleS
erLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIle
ArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHi
sSerHisArgValProValAspValAlaTyrArgArgGlyTyrPheAspG
luGluMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhe
PheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgAr
gCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyA
rgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArg
AspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSe
rValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnA
spLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGly
AlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGl
uAlaGluAlaGlySerProArgProGluProArgGluAlaLeuArgAlaA
laThrMetGluValLysValGlyArgLeuArgGlyArgAlaValProVal
TrpAspValLeuAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLe
uLeuAlaGluPheGlySerGlyThrLeuAspLeuProAlaLeuThrArgA
rgLeuThrAlaIleIleGluGluAlaGluGluAlaProGlyAlaArgPro
GlnLeuGlnAspAlaTrpArgGlyProArgGluProGlyProAlaGlyAr
gGlyAspGlyAspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyG
luThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaAlaArgArgGlnGlu
GlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPheGlnGl
yArgProValSerValTrpAspValLeuPheSerSerTyrLeuSerGluA
laArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeu
ProAspLeuValAlaValLeuThrArgValIleGluGluThrGluGluAr
gLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAlaSerG
luLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspLeuAla
GlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerValLysAr
gTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAlaLysA
spGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetTrpLys
GlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGlnAlaAl
aThrGlyPheValIleAspProValArgAsnLeuArgLeuSerValGluG
luAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysLeuLeu
SerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGl
nIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGluHisG
lyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleAspPro
ValHisSerHisArgValProValAspValAlaTyrArgArgGlyTyrPh
eAspGluGluMetAsnArgValLeuAlaAspProSerAspAspThrLysG
lyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeu
ArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAl
aGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaL
euArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGlyGlnSer
ValSerValTrpGluLeuLeuPheTyrArgGluValSerGluAspArgAr
gGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluL
euGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGlnAlaArg
AlaGluAlaGluAlaGlySerProArgPro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7610/16005 7535/15267 2512/5088 chr8 143865718
chr8:143865718 G
G
 T
T
 101 a0008
a0009
a0014
others(98): Show 
a0008
a0009
a0014
a0021
a0022
a0023
a0026
a0033
a0034
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0051
a0053
a0074
a0080
a0081
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0105
a0154
a0155
a0156
a0157
a0159
a0162
a0163
a0164
a0165
a0206
a0207
a0208
a0210
a0215
a0216
a0217
a0218
a0219
a0222
a0230
a0232
a0233
a0235
a0236
a0238
a0240
a0241
a0243
a0254
a0255
a0256
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0272
a0274
a0275
a0276
a0277
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
 129 HG00099.hp1
HG00099.hp2
HG00323.hp2
others(126): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02165.hp1
HG02293.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7536C>A
c.7536C>A
 p.Asp2512Glu
p.Asp2512Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7611/16005 7536/15267 2512/5088 chr8 143865718
chr8:143865728 G
G
 A
A
 1 a0074
a0074
 1 NA18747.hp2
NA18747.hp2
 missense_variant MODERATE c.7526C>T
c.7526C>T
 p.Pro2509Leu
p.Pro2509Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7601/16005 7526/15267 2509/5088 chr8 143865728
chr8:143865752 CGGGCCT
CGGGCCT
 C
C
 18 a0015
a0054
a0065
others(15): Show 
a0015
a0054
a0065
a0066
a0067
a0068
a0073
a0075
a0078
a0079
a0092
a0120
a0129
a0160
a0163
a0223
a0228
a0242
 20 HG00408.hp1
HG00423.hp1
HG00673.hp2
others(17): Show 
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG01106.hp2
HG01884.hp1
HG02109.hp1
HG02145.hp2
HG02559.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03471.hp1
HG03516.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19030.hp1
NA19058.hp1
NA19084.hp2
NA19240.hp1
 disruptive_inframe_deletion MODERATE c.7496_7501delAGGCCC
c.7496_7501delAGGCCC
 p.Gln2499_Ala2500del
p.Gln2499_Ala2500del
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7576/16005 7496/15267 2499/5088 chr8 143865752
chr8:143865758 T
T
 TGGGCCTG
others(3170): Show 
TGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGT
CCGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGG
ACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGG
AGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAG
CTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCA
TGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACG
TACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTC
GCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCC
GGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACG
CCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGAC
GATGAGGTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGTCCGGTGT
AGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCC
TGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAG
CCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCT
CCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCC
TGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCAC
CAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGT
CCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGC
AGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACAC
CTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCT
CCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCG
CCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTA
CGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCC
CGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGG
GCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTG
GGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCG
GGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCG
GCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAG
GGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCA
CGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGG
CGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGAGCCTCCCGGGGTTC
TGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCT
GGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTG
CCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTC
GCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGC
CCGAGCCTGGCGTCACGCGGGCGTCACGCAGGGCACAGCGCAGCTCCTCG
CTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAG
CCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGA
GGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGG
TCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGC
CACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCG
TGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGG
TCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTC
GGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCT
CGCCGCCCACCACGCCCGCAGCCACGGCCTCCTCCACCGACAGCCTCAGG
TTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAG
CACCAGGGCCGTGCCGGGCTGCAGCATGCCCTTCCACATGGCCTGGTAGA
TGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACG
CCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTC
CGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCT
CGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGC
CTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGAT
GACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCG
CGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAG
AAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTG
CACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGG
CAGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAG
CGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGCC
GCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCT
CCTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGTC
CCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTA
GCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGC
CCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGG
CGCGGGCTCCCGGCCTCGGCCTCGGCCC
 1 a0225
a0225
 1 HG03540.hp2
HG03540.hp2
 conservative_inframe_insertion MODERATE c.7495_7496insGGGCCG
others(3171): Show 
c.7495_7496insGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACC
CCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTC
CGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAG
CGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGG
ACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAG
GAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCG
GGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGC
GAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCTGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCATGCTGCAGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCTGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGAACCCCG
GGAGGCTCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC
AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC
CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG
CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG
GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG
GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGC
CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC
TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC
AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC
CAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGT
GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG
GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT
GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC
TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGA
CAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA
GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG
ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC
TACTTCGACGAGGAGATGAACCGCGTCCTGGCCGACCCCAGCGACGACAC
CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC
TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG
CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG
TGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCC
AGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGAC
CGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCGGACCGTGGA
GGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
 p.Ala2498_Gln2499ins
others(3177): Show 
p.Ala2498_Gln2499insArgAlaGluAlaGluAlaGlySerProArg
ProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGl
yArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyT
yrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGly
ThrLeuAspLeuProValLeuThrArgArgLeuThrAlaIleIleGluGl
uAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgG
lyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArg
SerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGlyMetLeuGlnProGlyThrAlaLeuValL
euLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsn
LeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGl
uIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrA
spProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAsp
LeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaTh
rGlyGlyValIleAspProValHisSerHisArgValProValAspValA
laTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAsp
ProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLe
uThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyL
euTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSer
GluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGl
yAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgG
luValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGly
ThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGl
nAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProG
luProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
ArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGl
yGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerT
yrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGly
AlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGl
uThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnV
alSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeu
ArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAs
pSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuV
alProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGln
AlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGl
uAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgL
euSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGln
GluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTy
rThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleV
alArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGly
ValIleAspProValHisSerHisArgValProValAspValAlaTyrAr
gArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerA
spAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyr
ValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMe
tLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluL
euArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeu
GlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSe
rGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrArgT
hrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7570/16005 7495/15267 2499/5088 chr8 143865758
chr8:143865788 AGGGTGGC
others(21): Show 
AGGGTGGCGCCCAGCTCCTCCACGGTCAG
 A
A
 1 a0226
a0226
 1 NA19076.hp1
NA19076.hp1
 frameshift_variant HIGH c.7438_7465delCTGACC
others(22): Show 
c.7438_7465delCTGACCGTGGAGGAGCTGGGCGCCACCC
 p.Leu2480fs
p.Leu2480fs
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7540/16005 7438/15267 2480/5088 chr8 143865788
chr8:143865810 C
C
 T
T
 1 a0071
a0071
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.7444G>A
c.7444G>A
 p.Val2482Met
p.Val2482Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7519/16005 7444/15267 2482/5088 chr8 143865810
chr8:143865815 A
A
 C
C
 5 a0015
a0068
a0120
others(2): Show 
a0015
a0068
a0120
a0160
a0225
 7 HG02559.hp1
HG02717.hp1
HG02970.hp2
others(4): Show 
HG02559.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 missense_variant MODERATE c.7439T>G
c.7439T>G
 p.Leu2480Arg
p.Leu2480Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7514/16005 7439/15267 2480/5088 chr8 143865815
chr8:143865827 C
C
 T
T
 1 a0093
a0093
 1 HG03654.hp1
HG03654.hp1
 missense_variant MODERATE c.7427G>A
c.7427G>A
 p.Arg2476Gln
p.Arg2476Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7502/16005 7427/15267 2476/5088 chr8 143865827
chr8:143865870 C
C
 T
T
 1 a0161
a0161
 1 HG02622.hp2
HG02622.hp2
 missense_variant MODERATE c.7384G>A
c.7384G>A
 p.Glu2462Lys
p.Glu2462Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7459/16005 7384/15267 2462/5088 chr8 143865870
chr8:143865894 C
C
 T
T
 1 a0169
a0169
 1 HG01981.hp2
HG01981.hp2
 missense_variant MODERATE c.7360G>A
c.7360G>A
 p.Val2454Ile
p.Val2454Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7435/16005 7360/15267 2454/5088 chr8 143865894
chr8:143865938 C
C
 T
T
 3 a0122
a0133
a0168
a0122
a0133
a0168
 3 HG02040.hp2
HG02717.hp2
NA18522.hp2
HG02040.hp2
HG02717.hp2
NA18522.hp2
 missense_variant MODERATE c.7316G>A
c.7316G>A
 p.Arg2439His
p.Arg2439His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7391/16005 7316/15267 2439/5088 chr8 143865938
chr8:143865942 C
C
 T
T
 1 a0128
a0128
 1 HG02896.hp1
HG02896.hp1
 missense_variant MODERATE c.7312G>A
c.7312G>A
 p.Ala2438Thr
p.Ala2438Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7387/16005 7312/15267 2438/5088 chr8 143865942
chr8:143865945 C
C
 T
T
 1 a0242
a0242
 1 HG00673.hp2
HG00673.hp2
 missense_variant MODERATE c.7309G>A
c.7309G>A
 p.Asp2437Asn
p.Asp2437Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7384/16005 7309/15267 2437/5088 chr8 143865945
chr8:143865946 G
G
 ACGCAGGG
others(1583): Show 
ACGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC
GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG
CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA
GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT
CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG
TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG
GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG
AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG
GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC
GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC
CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC
ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG
CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA
GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG
CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCGGGCGGCGGCAGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCGGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCC
TCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCG
GTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCT
GGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTTG
 1 a0243
a0243
 1 HG00621.hp1
HG00621.hp1
 conservative_inframe_insertion MODERATE c.7308_7309insAACGCC
others(1584): Show 
c.7308_7309insAACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAG
GGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGA
GGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCG
TGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCC
CGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCT
GCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGG
TGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCGG
GAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGTGCT
GACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGG
CCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCCGGGCCA
GCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGG
GGAGGGCGAGACCCAGGAGGCCGCCGCTGCCGCCGCCCGCCGCCAGGAGC
AGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAGGGG
CGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGAGGC
CCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCCTGC
CCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAGCGG
CTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTCCGA
GCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGGCCC
AGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAGCGC
TACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAAGGA
CCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGAAGG
GCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCGGCC
ACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGAGGA
GGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGCTGT
CGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAGCAG
ATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGG
CATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCG
TGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTC
GACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAAGGG
CTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGCTGC
GCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCA
GGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCT
GCGT
 p.Arg2436_Asp2437ins
others(1590): Show 
p.Arg2436_Asp2437insAsnAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGl
uAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyA
rgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAla
AlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuPr
oValLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaP
roGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluPro
GlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGl
yGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaArgArgG
lnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnPhe
GlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeuSe
rGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLeuG
lyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrGlu
GluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSerAl
aSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAspL
euAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerVal
LysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValProAl
aLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMetT
rpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaGln
AlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSerVa
lGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLysL
euLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrGly
GlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArgGl
uHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIleA
spProValHisSerHisArgValProValAspValAlaTyrArgArgGly
TyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAspTh
rLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGlnL
euLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuGln
LeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArgCy
sAlaLeuArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7383/16005 7308/15267 2436/5088 chr8 143865946
chr8:143865946 G
G
 GCGCAGGG
others(3188): Show 
GCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC
GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG
CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA
GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT
CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG
TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG
GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG
AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG
GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC
GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC
CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC
ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG
CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA
GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG
CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTC
CCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGG
CTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGG
GCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGT
CAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCT
CCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGC
ACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACG
CAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCC
GGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGC
TCTTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCG
CCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGC
TCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGG
GCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGC
CAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCA
GCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCC
TTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAA
GTAGCCGCGCTGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGG
GGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCG
TGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTG
CTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACA
GCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCC
TCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGC
CGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCT
TCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCC
TTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCG
CTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGG
CCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCG
GAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCG
CTCCTCGGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCA
GGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCC
TCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCC
CTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCT
CCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCC
TCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCC
GGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCC
GGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGG
GTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTC
CTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGG
GCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCA
CGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGC
CCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCA
GCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGG
CGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGAC
GCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCA
 1 a0060
a0060
 1 HG03098.hp2
HG03098.hp2
 disruptive_inframe_insertion MODERATE c.7307_7308insTGACGC
others(3189): Show 
c.7307_7308insTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACCGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCA
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAAGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCCGCCGCC
AGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTC
CAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAG
CGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGG
GCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAG
GAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGC
CTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACC
TGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTC
AAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGC
CAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGT
GGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAG
GCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGT
GGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGC
TGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGG
CAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGA
GCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCG
ACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGC
TACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACAC
CAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGC
TGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAG
CTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTG
TGCCCTGCG
 p.Arg2436_Asp2437ins
others(3195): Show 
p.Arg2436_Asp2437insAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrGlnArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAr
gArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyG
lnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyr
LeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAl
aLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluT
hrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVal
SerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuAr
gAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspS
erValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVal
ProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAl
aMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluA
laGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeu
SerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGl
uLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrT
hrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleVal
ArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVa
lIleAspProValHisSerHisArgValProValAspValAlaTyrArgA
rgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAsp
AspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVa
lGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetL
euGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeu
ArgCysAlaLeuArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7382/16005 7307/15267 2436/5088 chr8 143865946
chr8:143865946 G
G
 GCGCAGGG
others(1595): Show 
GCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCC
GGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAG
CGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAA
GAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCT
CGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTG
TGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCG
GATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGG
AGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCG
GCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCAC
GGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGC
CGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGC
ACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGG
CTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCA
GGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTG
CCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTG
CAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGC
TGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGG
TCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCG
GCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCG
GCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGG
GTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGT
CTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCC
CTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGC
TGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAG
CCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCA
GCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCC
CACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGT
GGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGG
CCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTG
GCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAG
GTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGA
CGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCG
TCA
 2 a0024
a0103
a0024
a0103
 3 HG01192.hp1
HG03453.hp1
HG03579.hp1
HG01192.hp1
HG03453.hp1
HG03579.hp1
 disruptive_inframe_insertion MODERATE c.7307_7308insTGACGC
others(1596): Show 
c.7307_7308insTGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCG
 p.Arg2436_Asp2437ins
others(1602): Show 
p.Arg2436_Asp2437insAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7382/16005 7307/15267 2436/5088 chr8 143865946
chr8:143865995 C
C
 T
T
 1 a0167
a0167
 1 HG02080.hp1
HG02080.hp1
 missense_variant MODERATE c.7259G>A
c.7259G>A
 p.Arg2420Gln
p.Arg2420Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7334/16005 7259/15267 2420/5088 chr8 143865995
chr8:143866052 A
A
 G
G
 1 a0098
a0098
 1 HG01109.hp2
HG01109.hp2
 missense_variant MODERATE c.7202T>C
c.7202T>C
 p.Leu2401Pro
p.Leu2401Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7277/16005 7202/15267 2401/5088 chr8 143866052
chr8:143866092 C
C
 T
T
 1 a0209
a0209
 1 HG03139.hp1
HG03139.hp1
 missense_variant MODERATE c.7162G>A
c.7162G>A
 p.Asp2388Asn
p.Asp2388Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7237/16005 7162/15267 2388/5088 chr8 143866092
chr8:143866160 C
C
 T
T
 1 a0128
a0128
 1 HG02896.hp1
HG02896.hp1
 missense_variant MODERATE c.7094G>A
c.7094G>A
 p.Arg2365His
p.Arg2365His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7169/16005 7094/15267 2365/5088 chr8 143866160
chr8:143866163 C
C
 T
T
 7 a0061
a0062
a0069
others(4): Show 
a0061
a0062
a0069
a0070
a0097
a0123
a0132
 7 HG02258.hp2
HG02280.hp2
HG02630.hp2
others(4): Show 
HG02258.hp2
HG02280.hp2
HG02630.hp2
HG03041.hp1
HG03225.hp1
HG03471.hp2
NA18906.hp1
 missense_variant MODERATE c.7091G>A
c.7091G>A
 p.Arg2364Gln
p.Arg2364Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7166/16005 7091/15267 2364/5088 chr8 143866163
chr8:143866179 C
C
 T
T
 1 a0063
a0063
 1 HG02809.hp1
HG02809.hp1
 missense_variant MODERATE c.7075G>A
c.7075G>A
 p.Val2359Met
p.Val2359Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7150/16005 7075/15267 2359/5088 chr8 143866179
chr8:143866187 C
C
 T
T
 1 a0131
a0131
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.7067G>A
c.7067G>A
 p.Arg2356His
p.Arg2356His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7142/16005 7067/15267 2356/5088 chr8 143866187
chr8:143866194 T
T
 TGTGCACG
others(4808): Show 
TGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGG
CGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAG
GGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCT
CGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCC
ACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAA
GCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCA
GCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCG
GGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTC
CAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAG
TGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTG
TGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTT
GCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGA
GGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCT
CGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGAC
CGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCA
GGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGG
GTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTC
CCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGA
GCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTC
AGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGC
CAGCAGCTCCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGT
CCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATG
GTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTC
GGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGG
TGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGC
AGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCA
GACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGG
CGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAG
CCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCAC
GCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGT
CGAAGAAACCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATC
TCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTG
GCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCA
GGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAG
AGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCG
CTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGG
CCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACG
AAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCG
CAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGC
CGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCC
TCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTT
AGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACG
TGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACC
TTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGAC
GAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGT
CTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAG
ACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACG
CAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCGGCCT
CCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCG
CCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTC
CTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGG
CGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAAC
TCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACGCCAG
CACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCT
CCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCG
GCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGT
GAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGC
TCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGC
TCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCAC
GCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGG
CGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCG
GGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTT
GGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGT
TCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACG
CGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTC
CAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCT
GGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTAACG
GCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCC
CGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGA
TGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCG
GGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTG
GCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGG
TGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGC
GTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCC
GGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGG
ACACCTTGCTGAGCCGCTCCTCCGTCTCCGCGATGACCCGGGTGAGGACG
GCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAG
CTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACA
CGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCA
TCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGTTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCC
 1 a0130
a0130
 1 HG01099.hp2
HG01099.hp2
 conservative_inframe_insertion MODERATE c.7059_7060insGGCCAC
others(4809): Show 
c.7059_7060insGGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGC
GGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGA
CACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGC
AGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTG
CAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCG
CTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGG
GCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAG
GACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGT
GGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCC
AGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGAACCCCGGGAG
GCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCG
CGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCG
CCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCC
GCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCC
CGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAG
GGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGC
CAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
CGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTTACCGGCTACACCGACC
CCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTC
ATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGG
CGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCT
ACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCC
AGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCAC
GTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCT
ACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAG
GAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGC
CCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGG
TGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACG
CTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGC
CCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACC
CCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTC
CGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAG
CGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGG
ACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAG
GAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCG
GGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGC
GAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCC
GCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGT
GCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCT
TCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCAC
GCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGT
CATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGA
GGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCC
GAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGAC
GGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGG
GCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGC
ATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGT
GCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCA
ACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGC
GAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACAC
CGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGG
ACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCC
ACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGT
GGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCG
ACCCCAGCGACGACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAAC
CTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGG
GCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGA
GCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCG
GGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCG
CGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGG
GCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCC
CAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCC
AGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCC
GCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTAC
GTGAGCAGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGAC
CCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGG
CCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGC
CCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTC
CCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCG
CCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAG
GTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCT
CTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGC
ACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGG
GTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCT
GAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCC
CCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTG
ACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGC
GGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGA
GCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTG
GTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCG
CAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCG
GCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTAC
ACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAA
GGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCG
CCACGGGCGGCGTCATCGACCCCGTGCAC
 p.His2353_Ser2354ins
others(4815): Show 
p.His2353_Ser2354insGlyHisArgValProValAspValAlaTyr
ArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSe
rAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrT
yrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyr
MetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGl
uLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaL
euGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVal
SerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLe
uThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaG
lnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProGluPro
ArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuAr
gGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerG
lyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAsp
LeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGl
uAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgG
luProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArg
GluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAl
aAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluV
alGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeu
PheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHi
sAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgV
alIleAlaGluThrGluGluArgLeuSerLysValSerPheArgGlyLeu
ArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPr
oGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValT
hrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAla
GlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSe
rIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuV
alLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArg
AsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGl
yGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrT
hrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLys
AspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAl
aThrGlyGlyValIleAspProValHisSerHisArgValProValAspV
alAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAla
AspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAs
nLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrG
lyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeu
SerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySe
rGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrA
rgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAla
GlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAl
aGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgP
roAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGly
ArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTy
rValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyT
hrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGlu
AlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGl
yProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgS
erGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAla
AlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMe
tGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspV
alLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAla
GlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuTh
rArgValIleGluGluThrGluGluArgLeuSerLysValSerPheArgG
lyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeu
GlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGl
uValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysI
leAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLys
MetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAl
aLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProV
alArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValVal
GlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGl
yTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetG
lnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGln
IleAlaThrGlyGlyValIleAspProValHisSerHisArgValProVa
lAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValL
euAlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHis
GluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAs
pThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisG
lnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrPro
GlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPh
eTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrA
rgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeu
LeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerPr
oArgProAspProArgGluAlaLeuArgAlaAlaThrMetGluValLysV
alGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAlaSer
GlyTyrValSerArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySe
rGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleG
luGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrp
ArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGl
yArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaA
laAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThr
MetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAs
pValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuA
laGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeu
ThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPheAr
gGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleL
euGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGln
GluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCy
sIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluL
ysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThr
AlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspPr
oValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValV
alGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThr
GlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMe
tGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaG
lnIleAlaThrGlyGlyValIleAspProValHis
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7134/16005 7059/15267 2353/5088 chr8 143866194
chr8:143866306 C
C
 CCCGGTGT
others(6389): Show 
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCAGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACA
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCACGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAA
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACACCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTC
AGCACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGT
 1 a0107
a0107
 1 HG03579.hp2
HG03579.hp2
 disruptive_inframe_insertion MODERATE c.6947_6948insACAGCA
others(6390): Show 
c.6947_6948insACAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGTGCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGTGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGTGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGTGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCTGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGG
 p.Gly2316_Gln2317ins
others(6396): Show 
p.Gly2316_Gln2317insGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProValLeuThrArgArgLeuThrAlaThrIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValL
euLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsn
LeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGl
uIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrA
spProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAsp
LeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaTh
rGlyGlyValIleAspProValHisSerHisArgValProValAspValA
laTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAsp
ProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLe
uThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyL
euTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSer
GluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGl
yAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgG
luValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGly
ThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGl
nAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaG
lyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSer
IleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVa
lLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgA
snLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGly
GluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrTh
rAspProTyrThrGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7022/16005 6947/15267 2316/5088 chr8 143866306
chr8:143866306 C
C
 CCCGGTGT
others(6389): Show 
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCAGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACA
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAA
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACACCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTC
AGCACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCTCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGT
 1 a0109
a0109
 1 HG02559.hp2
HG02559.hp2
 disruptive_inframe_insertion MODERATE c.6947_6948insACAGCA
others(6390): Show 
c.6947_6948insACAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGAGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGTGCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGTGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGTGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCTGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGG
 p.Gly2316_Gln2317ins
others(6396): Show 
p.Gly2316_Gln2317insGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgSerGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProValLeuThrArgArgLeuThrAlaThrIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValL
euLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsn
LeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGl
uIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrA
spProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAsp
LeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaTh
rGlyGlyValIleAspProValHisSerHisArgValProValAspValA
laTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAsp
ProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLe
uThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyL
euTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSer
GluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGl
yAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgG
luValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGly
ThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGl
nAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaG
lyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSer
IleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVa
lLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgA
snLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGly
GluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrTh
rAspProTyrThrGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7022/16005 6947/15267 2316/5088 chr8 143866306
chr8:143866306 C
C
 CCCGGTGT
others(6389): Show 
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACA
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCAGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAA
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTC
AGCACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGT
 1 a0108
a0108
 1 HG03486.hp2
HG03486.hp2
 disruptive_inframe_insertion MODERATE c.6947_6948insACAGCA
others(6390): Show 
c.6947_6948insACAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGTGCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCTGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGTGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGG
 p.Gly2316_Gln2317ins
others(6396): Show 
p.Gly2316_Gln2317insGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProValLeuThrArgArgLeuThrAlaThrIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuT
rpGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValL
euLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsn
LeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGl
uIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrA
spProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAsp
LeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaTh
rGlyGlyValIleAspProValHisSerHisArgValProValAspValA
laTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAsp
ProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLe
uThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyL
euTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSer
GluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGl
yAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgG
luValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGly
ThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGl
nAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaG
lyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSer
IleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVa
lLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgA
snLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGly
GluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrTh
rAspProTyrThrGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7022/16005 6947/15267 2316/5088 chr8 143866306
chr8:143866306 C
C
 CCCGGTGT
others(6389): Show 
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACA
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCC
CTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCC
CGGCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGC
CGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCG
GGTCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCT
CCTCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACG
GGCACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGC
ACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGG
CCCGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCC
AGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTG
GCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGA
CGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGC
AGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCC
TGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGC
GCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAA
CCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTC
GAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCA
CGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATG
CCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGAT
CTGCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCG
ACAGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCC
TCCTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGT
GGCCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGC
CCTTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGG
TCCTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTA
GCGCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCT
GGGCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGC
TCGGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAG
CCGCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGG
GCAGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGG
GCCTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCG
CCCCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCT
GCTCCTGGCGGCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTC
AGCACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGT
 3 a0072
a0098
a0106
a0072
a0098
a0106
 3 HG01109.hp2
HG02965.hp2
HG03195.hp2
HG01109.hp2
HG02965.hp2
HG03195.hp2
 disruptive_inframe_insertion MODERATE c.6947_6948insACAGCA
others(6390): Show 
c.6947_6948insACAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGTGCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGTGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCG
GGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGG
GGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGG
GCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTT
GCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGG
CCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAG
CCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGA
GGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCG
CCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGC
GGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTC
GTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCG
GCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAG
GAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCA
GGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCC
TGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATG
GACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCT
GGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACC
AGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTG
GAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAG
GCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCC
AGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCC
TACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCAT
CGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCG
GCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTAC
CGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAG
CGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGT
ACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTAC
ATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGA
GCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCC
TCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTG
TCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCT
GACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGC
CGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGC
GCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCC
TCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGC
CGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCG
AGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGC
CAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGAC
CCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGA
TGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTC
CTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTA
CCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGC
TGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTG
AGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGAT
CCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACC
CCTACACCGG
 p.Gly2316_Gln2317ins
others(6396): Show 
p.Gly2316_Gln2317insGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProValLeuThrArgArgLeuThrAlaThrIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAsp
ProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLe
uArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValS
erArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeu
AspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGl
uGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProA
rgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGln
ArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAl
aAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValG
lnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPhe
SerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAl
aAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValI
leGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArg
ArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGl
uThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrG
luMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGly
ValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIl
eTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValL
euLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsn
LeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGl
uIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrA
spProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAsp
LeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaTh
rGlyGlyValIleAspProValHisSerHisArgValProValAspValA
laTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAsp
ProSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLe
uThrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyL
euTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSer
GluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGl
yAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgG
luValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGly
ThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGl
nAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluVa
lGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuP
heSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHis
AlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgVa
lIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuA
rgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyPro
GluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValTh
rGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaG
lyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSer
IleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuVa
lLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgA
snLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGly
GluIleGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrTh
rAspProTyrThrGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7022/16005 6947/15267 2316/5088 chr8 143866306
chr8:143866306 C
C
 CCCGGTGT
others(7979): Show 
CCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCA
GCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCC
ACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGC
CTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCC
ACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTG
GCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTT
GACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCA
GGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAG
GCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTC
CTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGC
CCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCG
CTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTG
GAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCT
GGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCC
CCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGC
TGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGG
CCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTC
AGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTC
CCGGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCA
CCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGC
AGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCG
GGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCT
CCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGC
CGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCT
CTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGG
CACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCC
AGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAG
CAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCT
TGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAG
TAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGG
GTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGT
GCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGC
TGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAG
CAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCT
CCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCC
GCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTT
CCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCT
TGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGC
TTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGC
CAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGG
AGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGC
TCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAG
GCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCT
CGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCC
TGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTC
CTGGCGGCGGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCT
CCCCCTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCG
GCTGGCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCG
GGCCCCGGGGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGG
TCAGCGCGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCC
TCCCGGGCGGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGG
CACCGCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCAC
GCAGGGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCC
CGGGCCTGGGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAG
CTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGC
GCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACG
CTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAG
GGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTG
CCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGC
AGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACC
CTTGGTGTCGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGA
AGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACG
GGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCC
GTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCT
GCTGCCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGAC
AGCAGCTTCTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTC
CTCCACCGACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGG
CCGCCTGCGCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCC
TTCCACATGGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTC
CTTGGCGGGCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGC
GCTTGACCGAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGG
GCCAGGTCCCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTC
GGAGGCGGACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCC
GCTCCTCCGTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGC
AGGCCCAGGGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGC
CTCGCTCAGGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCC
CCTGGAACTGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGC
TCCTGGCGGCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCC
CTGGCCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTG
GCCCTGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCC
CCGGGGGCCTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTCAG
CACGGGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCC
GGGCGGCCCCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACC
GCGCGCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAG
GGCCTCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGG
CCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACG
GTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTC
GGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCT
GGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGC
AGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAG
CATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCA
CGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCG
TCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCG
CCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGA
CGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGG
ACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGT
GTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCT
CCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGAC
AGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGC
CTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGG
CCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGC
ACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGA
GTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCC
GCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGAC
ACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGT
CTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGG
CGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGG
TACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTG
CCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGC
GGGCGGCGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGG
CCCTCTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCC
TGGCTCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGG
GGGCCTCCTCGGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCG
GGCAAGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGC
GGCCCTGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGC
GCCCCCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCC
TCCCGGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTG
GGCCTGGGCCTGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCA
CGGTCAGCGTGCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCC
TCGGACACCTCGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCC
CTGGAGGGCGCCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGC
GCAGCTCCTCGCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGC
AGCATGTAGAGCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTG
CACGTACGTGAGGTTCTCGTGCGTGTTGGGGTCGAAGAAACCCTTGGTGT
CGTCGCTGGGGTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCG
CGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGAT
GACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCC
GGACGATGAGGTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCG
GTGTAGGGGTCGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTT
CTCCTGGATCTCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCG
ACAGCCTCAGGTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGC
GCCTCCAGCAGCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACAT
GGCCTGGTAGATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGG
GCACCAGGACGCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACC
GAGTCCATCTCCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTC
CCGCAGGGTCTCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGG
ACACCTGGCGCCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCC
GTCTCCTCGATGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAG
GGCGCCGGCCGCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCA
GGTACGAGGAGAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAAC
TGCCCGCGCTGCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCG
GCGGGCGGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCT
CTCGCTGGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGC
TCCCGCGGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGC
CTCCTCGGCCTCCTCGATGGTGGCGGTCAGCCGGCGGGTCAGCACGGGCA
AGTCCAGGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCC
CCGCTCACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCC
CCGGAGGCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCC
GGGGGTCTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGAGAGATCTGCTGT
 1 a0116
a0116
 1 HG01175.hp2
HG01175.hp2
 disruptive_inframe_insertion MODERATE c.6947_6948insACAGCA
others(7980): Show 
c.6947_6948insACAGCAGATCTCTCTCTTCCAGGCCATGCAGAAGGA
CCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCA
CGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTG
GCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGCGTCCTGGCCGA
CCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACC
TCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGG
CTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAG
CGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGG
GCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGC
GAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGG
CACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCC
AGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCC
CGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCG
GGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCG
GGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGAC
TTGCCCGTGCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGA
GGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGG
AGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGA
GAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCG
CCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGC
AGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTAC
CTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGC
CCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGA
CGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTG
TCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCG
GGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACT
CGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTG
CCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGC
CATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGG
CGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTG
TCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGA
GAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACA
CCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTC
CGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGT
CATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGC
GCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGAC
GACACCAAGGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGT
GCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGC
TGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTG
CGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCA
GGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCG
AGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACC
GTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGC
CCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGG
AGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGG
CGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGC
CGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGC
CCGCGCTGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCC
CCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCC
AGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGG
GCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCC
CGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGG
GCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGT
ACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGC
GCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGA
GACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGG
TGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTG
CGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGA
CTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGG
TGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAG
GCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGA
GGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGC
TGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAG
GAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTA
CACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCG
TCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGC
GTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCG
GCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCG
ACGACACCAAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTAC
GTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACAT
GCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGC
TGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTC
CAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTC
CGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGA
CCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAG
GCCCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGC
CCTGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCG
CGGTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCC
CGGGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGT
GCTGACCCGCCGGCTGACCGCCACCATCGAGGAGGCCGAGGAGGCCCCCG
GGGCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGG
CCAGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCA
GGGGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCCGCCGCCAGG
AGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCCAG
GGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGCGA
GGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGGCC
TGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGGAG
CGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCCTC
CGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCTGG
CCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCAAG
CGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCCAA
GGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTGGA
AGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGGCG
GCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTGGA
GGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCTGC
TGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGCAG
CAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAGCA
CGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGACC
CCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCTAC
TTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACCAA
GGGTTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCTGC
TGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGCTG
GCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGC
CCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGA
GCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGG
CGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAGGA
GCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGCCC
GGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCCTG
CGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCGGT
GCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCAGGGCCGCCCGGG
AGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGCTG
ACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGGGC
CCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCCAG
CCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGGGG
GAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGCCA
GGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTTCC
AGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGAGC
GAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTGGG
CCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGAGG
AGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCGCC
TCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGACCT
GGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGTCA
AGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCGCC
AAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATGTG
GAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCAGG
CGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGGTG
GAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAGCT
GCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGGGC
AGCAGATCTCCCTCTTCCAGGCCATGCAGAAGGACCTCATCGTCCGGGAG
CACGGCATCCGCCTGCTGGAGGCCCAGATCGCCACGGGCGGCGTCATCGA
CCCCGTGCACAGCCACCGCGTGCCCGTGGACGTGGCCTACCGGCGCGGCT
ACTTCGACGAGGAGATGAACCGTGTCCTGGCCGACCCCAGCGACGACACC
AAGGGCTTCTTCGACCCCAACACGCACGAGAACCTCACGTACGTGCAGCT
GCTGCGCCGCTGCGTGCCCGACCCGGACACCGGGCTCTACATGCTGCAGC
TGGCAGGCCGGGGCTCCGCCGTGCACCAGCTGAGCGAGGAGCTGCGCTGT
GCCCTGCGCGACGCCCGCGTGACGCCAGGCTCGGGCGCCCTCCAGGGCCA
GAGCGTCTCCGTCTGGGAGCTCCTCTTCTACCGCGAGGTGTCCGAGGACC
GGCGCCAGGACCTGCTGAGCAGATACCGGGCGGGCACGCTGACCGTGGAG
GAGCTGGGCGCCACCCTCACCTCGCTGCTGGCCCAGGCCCAGGCCCAGGC
CCGGGCCGAGGCCGAGGCCGGGAGCCCGCGCCCAGACCCCCGGGAGGCCC
TGCGTGCGGCCACCATGGAGGTCAAGGTGGGCCGCCTCCGGGGGCGCGCG
GTGCCCGTGTGGGACGTGCTGGCGTCCGGCTACGTGAGCGGGGCCGCCCG
GGAGGAGCTGCTGGCCGAGTTTGGCTCGGGGACCCTGGACTTGCCCGCGC
TGACCCGCCGGCTGACCGCCATCATCGAGGAGGCCGAGGAGGCCCCCGGG
GCCCGGCCGCAGCTCCAGGACGCCTGGCGCGGCCCGCGGGAGCCAGGGCC
AGCCGGGCGAGGGGACGGCGACTCGGGGCGCTCCCAGCGAGAGGGCCAGG
GGGAGGGCGAGACCCAGGAGGCCGCCGCCGCCGCCGCCGCCGCCCGCCGC
CAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGCAGCGCGGGCAGTT
CCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTCTCCTCGTACCTGA
GCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGCGGCCGGCGCCCTG
GGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCATCGAGGAGACGGA
GGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGGCGCCAGGTGTCCG
CCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGAGACCCTGCGGGAC
CTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGGAGATGGACTCGGT
CAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGCGTCCTGGTGCCCG
CCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCATCTACCAGGCCATG
TGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGCTGCTGGAGGCGCA
GGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAACCTGAGGCTGTCGG
TGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGGCGAGATCCAGGAGAAG
CTGCTGTCGGCCGAGCGCGCCGTCACCGGCTACACCGACCCCTACACCGG
 p.Gly2316_Gln2317ins
others(7986): Show 
p.Gly2316_Gln2317insGlnGlnIleSerLeuPheGlnAlaMetGln
LysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIl
eAlaThrGlyGlyValIleAspProValHisSerHisArgValProValA
spValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeu
AlaAspProSerAspAspThrLysGlyPhePheAspProAsnThrHisGl
uAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspProAspT
hrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGln
LeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValThrProGl
ySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheT
yrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArg
AlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLe
uAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProA
spProArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArg
LeuArgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrVa
lSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrL
euAspLeuProValLeuThrArgArgLeuThrAlaThrIleGluGluAla
GluGluAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyPr
oArgGluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerG
lnArgGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAla
AlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnAr
gGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerS
erTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAla
GlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGl
uGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgG
lnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThr
LeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMe
tAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValL
euValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyr
GlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLe
uGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuA
rgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIle
GlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspPr
oTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuI
leValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGly
GlyValIleAspProValHisSerHisArgValProValAspValAlaTy
rArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProS
erAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThr
TyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTy
rMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluG
luLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAla
LeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluVa
lSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrL
euThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAla
GlnAlaGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspPr
oArgGluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuA
rgGlyArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSer
ArgAlaAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAs
pLeuProAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluG
luAlaProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArg
GluProGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnAr
gGluGlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaA
laAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGln
ArgGlyGlnPheGlnGlyArgProValSerValTrpAspValLeuPheSe
rSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaA
laGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrArgValIle
GluGluThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgAr
gGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluT
hrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGlu
MetAspSerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyVa
lLeuValProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleT
yrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeu
LeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLe
uArgLeuSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluI
leGlnGluLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAsp
ProTyrThrGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLe
uIleValArgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrG
lyGlyValIleAspProValHisSerHisArgValProValAspValAla
TyrArgArgGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspPr
oSerAspAspThrLysGlyPhePheAspProAsnThrHisGluAsnLeuT
hrTyrValGlnLeuLeuArgArgCysValProAspProAspThrGlyLeu
TyrMetLeuGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGl
uGluLeuArgCysAlaLeuArgAspAlaArgValThrProGlySerGlyA
laLeuGlnGlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGlu
ValSerGluAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyTh
rLeuThrValGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnA
laGlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArg
GluAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGl
yArgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyA
laAlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeu
ProValLeuThrArgArgLeuThrAlaThrIleGluGluAlaGluGluAl
aProGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluP
roGlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGlu
GlyGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaArgAr
gGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGlnP
heGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrLeu
SerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAlaLe
uGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluThrG
luGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValSer
AlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArgAs
pLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSerV
alLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValPro
AlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAlaMe
tTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAlaG
lnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuSer
ValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGluLy
sLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrThrG
lyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValArg
GluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyValIl
eAspProValHisSerHisArgValProValAspValAlaTyrArgArgG
lyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspAsp
ThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrValGl
nLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLeuG
lnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuArg
CysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGlnGl
yGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGluA
spArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrVal
GluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAlaGl
nAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGluA
laLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyArg
AlaValProValTrpAspValLeuAlaSerGlyTyrValSerArgAlaAl
aArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuProA
laLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaPro
GlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluProGl
yProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGlyG
lnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaArg
ArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGlyGl
nPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTyrL
euSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyAla
LeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGluTh
rGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnValS
erAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuArg
AspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAspSe
rValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuValP
roAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnAla
MetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGluAl
aGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLeuS
erValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnGlu
LysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyrTh
rGlyGlnGlnIleSerLeuPheGlnAlaMetGlnLysAspLeuIleValA
rgGluHisGlyIleArgLeuLeuGluAlaGlnIleAlaThrGlyGlyVal
IleAspProValHisSerHisArgValProValAspValAlaTyrArgAr
gGlyTyrPheAspGluGluMetAsnArgValLeuAlaAspProSerAspA
spThrLysGlyPhePheAspProAsnThrHisGluAsnLeuThrTyrVal
GlnLeuLeuArgArgCysValProAspProAspThrGlyLeuTyrMetLe
uGlnLeuAlaGlyArgGlySerAlaValHisGlnLeuSerGluGluLeuA
rgCysAlaLeuArgAspAlaArgValThrProGlySerGlyAlaLeuGln
GlyGlnSerValSerValTrpGluLeuLeuPheTyrArgGluValSerGl
uAspArgArgGlnAspLeuLeuSerArgTyrArgAlaGlyThrLeuThrV
alGluGluLeuGlyAlaThrLeuThrSerLeuLeuAlaGlnAlaGlnAla
GlnAlaArgAlaGluAlaGluAlaGlySerProArgProAspProArgGl
uAlaLeuArgAlaAlaThrMetGluValLysValGlyArgLeuArgGlyA
rgAlaValProValTrpAspValLeuAlaSerGlyTyrValSerGlyAla
AlaArgGluGluLeuLeuAlaGluPheGlySerGlyThrLeuAspLeuPr
oAlaLeuThrArgArgLeuThrAlaIleIleGluGluAlaGluGluAlaP
roGlyAlaArgProGlnLeuGlnAspAlaTrpArgGlyProArgGluPro
GlyProAlaGlyArgGlyAspGlyAspSerGlyArgSerGlnArgGluGl
yGlnGlyGluGlyGluThrGlnGluAlaAlaAlaAlaAlaAlaAlaAlaA
rgArgGlnGluGlnThrLeuArgAspAlaThrMetGluValGlnArgGly
GlnPheGlnGlyArgProValSerValTrpAspValLeuPheSerSerTy
rLeuSerGluAlaArgArgAspGluLeuLeuAlaGlnHisAlaAlaGlyA
laLeuGlyLeuProAspLeuValAlaValLeuThrArgValIleGluGlu
ThrGluGluArgLeuSerLysValSerPheArgGlyLeuArgArgGlnVa
lSerAlaSerGluLeuHisThrSerGlyIleLeuGlyProGluThrLeuA
rgAspLeuAlaGlnGlyThrLysThrLeuGlnGluValThrGluMetAsp
SerValLysArgTyrLeuGluGlyThrSerCysIleAlaGlyValLeuVa
lProAlaLysAspGlnProGlyArgGlnGluLysMetSerIleTyrGlnA
laMetTrpLysGlyValLeuArgProGlyThrAlaLeuValLeuLeuGlu
AlaGlnAlaAlaThrGlyPheValIleAspProValArgAsnLeuArgLe
uSerValGluGluAlaValAlaAlaGlyValValGlyGlyGluIleGlnG
luLysLeuLeuSerAlaGluArgAlaValThrGlyTyrThrAspProTyr
ThrGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7022/16005 6947/15267 2316/5088 chr8 143866306
chr8:143866311 T
T
 C
C
 1 a0221
a0221
 1 HG01109.hp1
HG01109.hp1
 missense_variant MODERATE c.6943A>G
c.6943A>G
 p.Thr2315Ala
p.Thr2315Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7018/16005 6943/15267 2315/5088 chr8 143866311
chr8:143866329 C
C
 T
T
 1 a0124
a0124
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.6925G>A
c.6925G>A
 p.Gly2309Ser
p.Gly2309Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7000/16005 6925/15267 2309/5088 chr8 143866329
chr8:143866372 G
G
 GCCGCCCA
others(3185): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCACTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCAGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGTT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCACGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCAGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTTGCTGGGGTCGGCCAGG
ACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 1 a0076
a0076
 1 HG04184.hp2
HG04184.hp2
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(3186): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCAACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGTGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCTGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGTGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGG
 p.Gly2294_Glu2295ins
others(3192): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAsnAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProGluProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaTrpProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGln
GluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGl
yThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleA
spProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGly
ValValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(1583): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
AGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGC
GCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGCCG
CGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTC
CTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGTCC
CCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAG
CCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCC
CACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGC
GCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
GCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
CGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 1 a0080
a0080
 1 NA21309.hp2
NA21309.hp2
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(1584): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCGATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGG
 p.Gly2294_Glu2295ins
others(1590): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(1583): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
AGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGC
GCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGCCG
CGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTC
CTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGTCC
CCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAG
CCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCC
CACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGC
GCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCAGC
GAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTA
TCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGA
GGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGC
GTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTG
CACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCG
GGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGC
GTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGAC
GCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGG
GCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGG
GCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCAT
GGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCCGG
TGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 1 a0081
a0081
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(1584): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGG
 p.Gly2294_Glu2295ins
others(1590): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(3176): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCC
CCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGCGGGCCGCGC
CAGGCGTCCTGGAGCTGCGGCCAGGCCCCGGGGGCCTCCTCGGCCTCCTC
GATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCAGGGTCCCCG
AGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCG
GACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCAC
CTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGTTCTGGGCGCG
GGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCTGGGCCAGC
AGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCG
GTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGA
AGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCT
GGCGTCACGCGGGCGTCACGCAGGGCACAGCGCAGCTCCTCGCTCAGCTG
GTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGT
CCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCG
TGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAG
GACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCA
CGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATC
TGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTG
CATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGTCGGTGTAGC
CGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCGCCGCCC
ACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGTTGCGCAC
GGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGCACCAGGG
CCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGATGCTCATC
TTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGCCCGCGAT
GCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCCGTCACCT
CCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTCGGGGCCC
AGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCCTCAGGCC
GCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATGACCCGGG
TGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGCGTGCTGG
GCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGAAGAGGAC
GTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGCACCTCCA
TGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGCAGCGGCG
GCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGAGCGCCCCGA
GTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGCCGCGCCAGG
CGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCCTCCTCGATG
ATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGTCCCCGAGCC
AAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGTAGCCGGACG
CCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGGCCCACCTTG
ACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGGGCGCGGGCT
CCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCAGCGAGGTGA
GGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGGTATCTGCTC
AGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAAGAGGAGCTC
CCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTGGCGTCACGC
GGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGGTGCACGGCG
GAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTCCGGGTCGGG
CACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGTGCGTGTTGG
GGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGGACGCGGTTC
ATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCG
GTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCTGGGCCTCCA
GCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGCATGGCCTGG
AAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCCGGTGACGGC
GCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 1 a0267
a0267
 1 HG03942.hp1
HG03942.hp1
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(3177): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGTGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCTGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATGGAGGTGC
AGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGTCCTCTTC
TCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCCAGCACGC
GGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACCCGGGTCA
TCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGGCCTGAGG
CGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGGGCCCCGA
GACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAGGTGACGG
AGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCATCGCGGGC
GTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGATGAGCAT
CTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCCCTGGTGC
TGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGTGCGCAAC
CTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGGGCGG
 p.Gly2294_Glu2295ins
others(3183): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProGluProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaTrpProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaThrMetGl
uValGlnArgGlyGlnPheGlnGlyArgProValSerValTrpAspValL
euPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLeuAlaGln
HisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValLeuThrAr
gValIleGluGluThrGluGluArgLeuSerLysValSerPheArgGlyL
euArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIleLeuGly
ProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuGlnGluVa
lThrGluMetAspSerValLysArgTyrLeuGluGlyThrSerCysIleA
laGlyValLeuValProAlaLysAspGlnProGlyArgGlnGluLysMet
SerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyThrAlaLe
uValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAspProValA
rgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyValValGly
Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(3185): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCAGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGTT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCACGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCAGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGG
ACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATCGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 1 a0166
a0166
 1 HG01496.hp1
HG01496.hp1
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(3186): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCGATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGTGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCTGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGG
 p.Gly2294_Glu2295ins
others(3192): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProGluProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaTrpProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGln
GluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGl
yThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleA
spProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGly
ValValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(3185): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCAGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGTT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCACGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCAGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGCGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGGGTCGGCCAGG
ACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 2 a0003
a0082
a0003
a0082
 8 HG00323.hp1
HG00733.hp1
HG00738.hp2
others(5): Show 
HG00323.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01515.hp2
HG01517.hp2
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(3186): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGTGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGAACCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCTGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGG
 p.Gly2294_Glu2295ins
others(3192): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrArgGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProGluProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuArgGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaTrpProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGln
GluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGl
yThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleA
spProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGly
ValValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866372 G
G
 GCCGCCCA
others(3185): Show 
GCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAGGT
TGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCAGC
ACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAGAT
GCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGACGC
CCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCTCC
GTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTCTC
GGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCGCC
TCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGATG
ACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCCGC
GTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGAGA
AGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCTGC
ACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCGGC
GGCGGCGGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCT
GGGAGCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCTGGCTCCCGC
GGGCCGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTC
GGCCTCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCGCGGGCAAGTCCA
GGGTCCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTC
ACGTAGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCAGAG
GCGGCCCACCTTGACCTCCATGGTGGCCGCACGCAGAGCCTCCCGGGGTT
CTGGGCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCC
TGGGCCAGCAGCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGT
GCCCGCCCGGTATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCT
CGCGGTAGAAGAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCG
CCCGAGCCTGGCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTC
GCTCAGCTGGTGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGA
GCCCGGTGTCCGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTG
AGGTTCTCGTGCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCGCTGGG
GTCGGCCAGGACACGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGG
CCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCC
GTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAG
GTCCTTCTGCATGGCCTGGAAGAGGGAGATCTGCTGCCCGGTGTAGGGGT
CGGTGTAGCCGGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATC
TCGCCGCCCACCACGCCCGCGGCCACGGCCTCCTCCACCGACAGCCTCAG
GTTGCGCACGGGGTCGATGACGAAGCCGGTGGCCGCCTGCGCCTCCAGCA
GCACCAGGGCCGTGCCGGGCCGCAGCACGCCCTTCCACATGGCCTGGTAG
ATGCTCATCTTCTCCTGGCGGCCGGGCTGGTCCTTGGCGGGCACCAGGAC
GCCCGCGATGCAGCTGGTGCCCTCCAGGTAGCGCTTGACCGAGTCCATCT
CCGTCACCTCCTGCAGCGTCTTAGTGCCCTGGGCCAGGTCCCGCAGGGTC
TCGGGGCCCAGGATCCCGGACGTGTGCAGCTCGGAGGCGGACACCTGGCG
CCTCAGGCCGCGGAAGGACACCTTGCTGAGCCGCTCCTCCGTCTCCTCGA
TGACCCGGGTGAGGACGGCGACGAGGTCGGGCAGGCCCAGGGCGCCGGCC
GCGTGCTGGGCCAGGAGCTCGTCTCGGCGGGCCTCGCTCAGGTACGAGGA
GAAGAGGACGTCCCACACGGAGACCGGCCGCCCCTGGAACTGCCCGCGCT
GCACCTCCATGGTGGCATCACGCAGGGTCTGCTCCTGGCGGCGGGCGGCG
GCAGCGGCGGCCTCCTGGGTCTCGCCCTCCCCCTGGCCCTCTCGCTGGGA
GCGCCCCGAGTCGCCGTCCCCTCGCCCGGCTGGCCCGGGCTCCCGCGGGC
CGCGCCAGGCGTCCTGGAGCTGCGGCCGGGCCCCGGGGGCCTCCTCGGCC
TCCTCGATGATGGCGGTCAGCCGGCGGGTCAGCACGGGCAAGTCCAGGGT
CCCCGAGCCAAACTCGGCCAGCAGCTCCTCCCGGGCGGCCCCGCTCACGT
AGCCGGACGCCAGCACGTCCCACACGGGCACCGCGCGCCCCCGGAGGCGG
CCCACCTTGACCTCCATGGTGGCCGCACGCAGGGCCTCCCGGGGGTCTGG
GCGCGGGCTCCCGGCCTCGGCCTCGGCCCGGGCCTGGGCCTGGGCCAGCA
GCGAGGTGAGGGTGGCGCCCAGCTCCTCCACGGTCAGCGTGCCCGCCCGG
TATCTGCTCAGCAGGTCCTGGCGCCGGTCCTCGGACACCTCGTGGTAGAA
GAGGAGCTCCCAGACGGAGACGCTCTGGCCCTGGAGGGCGCCCGAGCCTG
GCGTCACGCGGGCGTCGCGCAGGGCACAGCGCAGCTCCTCGCTCAGCTGG
TGCACGGCGGAGCCCCGGCCTGCCAGCTGCAGCATGTAGAGCCCGGTGTC
CGGGTCGGGCACGCAGCGGCGCAGCAGCTGCACGTACGTGAGGTTCTCGT
GCGTGTTGGGGTCGAAGAAGCCCTTGGTGTCGTCACTGGGGTCGGCCAGG
ACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCAC
GGGCACGCGGTGGCTGTGCACGGGGTCGATGACGCCGCCCGTGGCGATCT
GGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGTCCTTCTGC
ATGGCCTGGAAGAGAGAGATCTGCTGTCCGGTGTAGGGGTCGGTGTAGCC
GGTGACGGCGCGCTCGGCCGACAGCAGCTTCTCCTGGATCTCA
 2 a0122
a0133
a0122
a0133
 2 HG02717.hp2
NA18522.hp2
HG02717.hp2
NA18522.hp2
 disruptive_inframe_insertion MODERATE c.6881_6882insTGAGAT
others(3186): Show 
c.6881_6882insTGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGC
CGTCACCGGCTACACCGACCCCTACACCGGACAGCAGATCTCTCTCTTCC
AGGCCATGCAGAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTG
GAGGCCCAGATCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCG
CGTGCCCGTGGACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGA
ACCGCGTCCTGGCCGACCCCAGTGACGACACCAAGGGCTTCTTCGACCCC
AACACGCACGAGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCC
CGACCCGGACACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCG
CCGTGCACCAGCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGC
GTGACGCCAGGCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGA
GCTCCTCTTCTACCACGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGA
GCAGATACCGGGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTC
ACCTCGCTGCTGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAG
CCCGCGCCCAGACCCCCGGGAGGCCCTGCGTGCGGCCACCATGGAGGTCA
AGGTGGGCCGCCTCCGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCG
TCCGGCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGG
CTCGGGGACCCTGGACTTGCCCGTGCTGACCCGCCGGCTGACCGCCATCA
TCGAGGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCC
TGGCGCGGCCCGCGGGAGCCCGGGCCAGCCGGGCGAGGGGACGGCGACTC
GGGGCGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCG
CCGCTGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCATG
GAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGACGT
CCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGCCC
AGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCACC
CGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGCGG
CCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCTGG
GCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGGAG
GTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGCAT
CGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAAGA
TGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGGCC
CTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCCGT
GCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGTGG
GCGGCGAGATCCAGGAGAAGCTGCTGTCGGCCGAGCGCGCCGTCACCGGC
TACACCGACCCCTACACCGGGCAGCAGATCTCCCTCTTCCAGGCCATGCA
GAAGGACCTCATCGTCCGGGAGCACGGCATCCGCCTGCTGGAGGCCCAGA
TCGCCACGGGCGGCGTCATCGACCCCGTGCACAGCCACCGCGTGCCCGTG
GACGTGGCCTACCGGCGCGGCTACTTCGACGAGGAGATGAACCGTGTCCT
GGCCGACCCCAGCGACGACACCAAGGGCTTCTTCGACCCCAACACGCACG
AGAACCTCACGTACGTGCAGCTGCTGCGCCGCTGCGTGCCCGACCCGGAC
ACCGGGCTCTACATGCTGCAGCTGGCAGGCCGGGGCTCCGCCGTGCACCA
GCTGAGCGAGGAGCTGCGCTGTGCCCTGCGCGACGCCCGCGTGACGCCAG
GCTCGGGCGCCCTCCAGGGCCAGAGCGTCTCCGTCTGGGAGCTCCTCTTC
TACCGCGAGGTGTCCGAGGACCGGCGCCAGGACCTGCTGAGCAGATACCG
GGCGGGCACGCTGACCGTGGAGGAGCTGGGCGCCACCCTCACCTCGCTGC
TGGCCCAGGCCCAGGCCCAGGCCCGGGCCGAGGCCGAGGCCGGGAGCCCG
CGCCCAGAACCCCGGGAGGCTCTGCGTGCGGCCACCATGGAGGTCAAGGT
GGGCCGCCTCTGGGGGCGCGCGGTGCCCGTGTGGGACGTGCTGGCGTCCG
GCTACGTGAGCGGGGCCGCCCGGGAGGAGCTGCTGGCCGAGTTTGGCTCG
GGGACCCTGGACTTGCCCGCGCTGACCCGCCGGCTGACCGCCATCATCGA
GGAGGCCGAGGAGGCCCCCGGGGCCCGGCCGCAGCTCCAGGACGCCTGGC
GCGGCCCGCGGGAGCCAGGGCCAGCCGGGCGAGGGGACGGCGACTCGGGG
CGCTCCCAGCGAGAGGGCCAGGGGGAGGGCGAGACCCAGGAGGCCGCCGC
CGCCGCCGCCGCCGCCCGCCGCCAGGAGCAGACCCTGCGTGATGCCACCA
TGGAGGTGCAGCGCGGGCAGTTCCAGGGGCGGCCGGTCTCCGTGTGGGAC
GTCCTCTTCTCCTCGTACCTGAGCGAGGCCCGCCGAGACGAGCTCCTGGC
CCAGCACGCGGCCGGCGCCCTGGGCCTGCCCGACCTCGTCGCCGTCCTCA
CCCGGGTCATCGAGGAGACGGAGGAGCGGCTCAGCAAGGTGTCCTTCCGC
GGCCTGAGGCGCCAGGTGTCCGCCTCCGAGCTGCACACGTCCGGGATCCT
GGGCCCCGAGACCCTGCGGGACCTGGCCCAGGGCACTAAGACGCTGCAGG
AGGTGACGGAGATGGACTCGGTCAAGCGCTACCTGGAGGGCACCAGCTGC
ATCGCGGGCGTCCTGGTGCCCGCCAAGGACCAGCCCGGCCGCCAGGAGAA
GATGAGCATCTACCAGGCCATGTGGAAGGGCGTGCTGCGGCCCGGCACGG
CCCTGGTGCTGCTGGAGGCGCAGGCGGCCACCGGCTTCGTCATCGACCCC
GTGCGCAACCTGAGGCTGTCGGTGGAGGAGGCCGTGGCCGCGGGCGTGGT
GGGCGG
 p.Gly2294_Glu2295ins
others(3192): Show 
p.Gly2294_Glu2295insGluIleGlnGluLysLeuLeuSerAlaGlu
ArgAlaValThrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLe
uPheGlnAlaMetGlnLysAspLeuIleValArgGluHisGlyIleArgL
euLeuGluAlaGlnIleAlaThrGlyGlyValIleAspProValHisSer
HisArgValProValAspValAlaTyrArgArgGlyTyrPheAspGluGl
uMetAsnArgValLeuAlaAspProSerAspAspThrLysGlyPhePheA
spProAsnThrHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCys
ValProAspProAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGl
ySerAlaValHisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspA
laArgValThrProGlySerGlyAlaLeuGlnGlyGlnSerValSerVal
TrpGluLeuLeuPheTyrHisGluValSerGluAspArgArgGlnAspLe
uLeuSerArgTyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaT
hrLeuThrSerLeuLeuAlaGlnAlaGlnAlaArgAlaGluAlaGluAla
GlySerProArgProAspProArgGluAlaLeuArgAlaAlaThrMetGl
uValLysValGlyArgLeuArgGlyArgAlaValProValTrpAspValL
euAlaSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGlu
PheGlySerGlyThrLeuAspLeuProValLeuThrArgArgLeuThrAl
aIleIleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnA
spAlaTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGly
AspSerGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGl
uAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAlaT
hrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValTrp
AspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeuLe
uAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaValL
euThrArgValIleGluGluThrGluGluArgLeuSerLysValSerPhe
ArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGlyIl
eLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLeuG
lnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrSer
CysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGlnGl
uLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGlyT
hrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleAsp
ProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGlyVa
lValGlyGlyGluIleGlnGluLysLeuLeuSerAlaGluArgAlaValT
hrGlyTyrThrAspProTyrThrGlyGlnGlnIleSerLeuPheGlnAla
MetGlnLysAspLeuIleValArgGluHisGlyIleArgLeuLeuGluAl
aGlnIleAlaThrGlyGlyValIleAspProValHisSerHisArgValP
roValAspValAlaTyrArgArgGlyTyrPheAspGluGluMetAsnArg
ValLeuAlaAspProSerAspAspThrLysGlyPhePheAspProAsnTh
rHisGluAsnLeuThrTyrValGlnLeuLeuArgArgCysValProAspP
roAspThrGlyLeuTyrMetLeuGlnLeuAlaGlyArgGlySerAlaVal
HisGlnLeuSerGluGluLeuArgCysAlaLeuArgAspAlaArgValTh
rProGlySerGlyAlaLeuGlnGlyGlnSerValSerValTrpGluLeuL
euPheTyrArgGluValSerGluAspArgArgGlnAspLeuLeuSerArg
TyrArgAlaGlyThrLeuThrValGluGluLeuGlyAlaThrLeuThrSe
rLeuLeuAlaGlnAlaGlnAlaGlnAlaArgAlaGluAlaGluAlaGlyS
erProArgProGluProArgGluAlaLeuArgAlaAlaThrMetGluVal
LysValGlyArgLeuTrpGlyArgAlaValProValTrpAspValLeuAl
aSerGlyTyrValSerGlyAlaAlaArgGluGluLeuLeuAlaGluPheG
lySerGlyThrLeuAspLeuProAlaLeuThrArgArgLeuThrAlaIle
IleGluGluAlaGluGluAlaProGlyAlaArgProGlnLeuGlnAspAl
aTrpArgGlyProArgGluProGlyProAlaGlyArgGlyAspGlyAspS
erGlyArgSerGlnArgGluGlyGlnGlyGluGlyGluThrGlnGluAla
AlaAlaAlaAlaAlaAlaAlaArgArgGlnGluGlnThrLeuArgAspAl
aThrMetGluValGlnArgGlyGlnPheGlnGlyArgProValSerValT
rpAspValLeuPheSerSerTyrLeuSerGluAlaArgArgAspGluLeu
LeuAlaGlnHisAlaAlaGlyAlaLeuGlyLeuProAspLeuValAlaVa
lLeuThrArgValIleGluGluThrGluGluArgLeuSerLysValSerP
heArgGlyLeuArgArgGlnValSerAlaSerGluLeuHisThrSerGly
IleLeuGlyProGluThrLeuArgAspLeuAlaGlnGlyThrLysThrLe
uGlnGluValThrGluMetAspSerValLysArgTyrLeuGluGlyThrS
erCysIleAlaGlyValLeuValProAlaLysAspGlnProGlyArgGln
GluLysMetSerIleTyrGlnAlaMetTrpLysGlyValLeuArgProGl
yThrAlaLeuValLeuLeuGluAlaGlnAlaAlaThrGlyPheValIleA
spProValArgAsnLeuArgLeuSerValGluGluAlaValAlaAlaGly
ValValGlyGly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6956/16005 6881/15267 2294/5088 chr8 143866372
chr8:143866485 C
C
 T
T
 1 a0228
a0228
 1 HG00408.hp1
HG00408.hp1
 missense_variant MODERATE c.6769G>A
c.6769G>A
 p.Gly2257Ser
p.Gly2257Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6844/16005 6769/15267 2257/5088 chr8 143866485
chr8:143866575 C
C
 T
T
 1 a0128
a0128
 1 HG02896.hp1
HG02896.hp1
 missense_variant MODERATE c.6679G>A
c.6679G>A
 p.Ala2227Thr
p.Ala2227Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6754/16005 6679/15267 2227/5088 chr8 143866575
chr8:143866611 G
G
 A
A
 15 a0003
a0075
a0076
others(12): Show 
a0003
a0075
a0076
a0078
a0079
a0080
a0081
a0082
a0092
a0129
a0166
a0228
a0242
a0243
a0267
 21 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(18): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.6643C>T
c.6643C>T
 p.Arg2215Cys
p.Arg2215Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6718/16005 6643/15267 2215/5088 chr8 143866611
chr8:143866695 G
G
 A
A
 7 a0061
a0062
a0069
others(4): Show 
a0061
a0062
a0069
a0070
a0097
a0121
a0123
 7 HG02258.hp2
HG02280.hp2
HG02630.hp1
others(4): Show 
HG02258.hp2
HG02280.hp2
HG02630.hp1
HG02630.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp1
 missense_variant MODERATE c.6559C>T
c.6559C>T
 p.Leu2187Phe
p.Leu2187Phe
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6634/16005 6559/15267 2187/5088 chr8 143866695
chr8:143866735 C
C
 G
G
 3 a0075
a0078
a0079
a0075
a0078
a0079
 3 NA18972.hp1
NA18974.hp1
NA19084.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 missense_variant MODERATE c.6519G>C
c.6519G>C
 p.Trp2173Cys
p.Trp2173Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6594/16005 6519/15267 2173/5088 chr8 143866735
chr8:143866748 T
T
 C
C
 1 a0223
a0223
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.6506A>G
c.6506A>G
 p.Asn2169Ser
p.Asn2169Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6581/16005 6506/15267 2169/5088 chr8 143866748
chr8:143866752 T
T
 C
C
 2 a0025
a0054
a0025
a0054
 3 HG01884.hp1
HG03041.hp2
NA19043.hp2
HG01884.hp1
HG03041.hp2
NA19043.hp2
 missense_variant MODERATE c.6502A>G
c.6502A>G
 p.Ser2168Gly
p.Ser2168Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6577/16005 6502/15267 2168/5088 chr8 143866752
chr8:143866778 A
A
 C
C
 1 a0210
a0210
 1 HG00738.hp1
HG00738.hp1
 stop_gained HIGH c.6476T>G
c.6476T>G
 p.Leu2159*
p.Leu2159*
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6551/16005 6476/15267 2159/5088 chr8 143866778
chr8:143866785 G
G
 A
A
 1 a0074
a0074
 1 NA18747.hp2
NA18747.hp2
 missense_variant MODERATE c.6469C>T
c.6469C>T
 p.Leu2157Phe
p.Leu2157Phe
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6544/16005 6469/15267 2157/5088 chr8 143866785
chr8:143866791 C
C
 T
T
 6 a0034
a0047
a0095
others(3): Show 
a0034
a0047
a0095
a0294
a0295
a0296
 8 HG00609.hp1
HG01074.hp2
HG01261.hp2
others(5): Show 
HG00609.hp1
HG01074.hp2
HG01261.hp2
HG01346.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
NA19074.hp2
 missense_variant MODERATE c.6463G>A
c.6463G>A
 p.Ala2155Thr
p.Ala2155Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6538/16005 6463/15267 2155/5088 chr8 143866791
chr8:143866893 T
T
 A
A
 1 a0097
a0097
 1 HG02258.hp2
HG02258.hp2
 missense_variant MODERATE c.6361A>T
c.6361A>T
 p.Thr2121Ser
p.Thr2121Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6436/16005 6361/15267 2121/5088 chr8 143866893
chr8:143866913 C
C
 T
T
 1 a0091
a0091
 1 HG02735.hp1
HG02735.hp1
 missense_variant MODERATE c.6341G>A
c.6341G>A
 p.Arg2114Lys
p.Arg2114Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6416/16005 6341/15267 2114/5088 chr8 143866913
chr8:143867013 G
G
 C
C
 89 a0007
a0008
a0016
others(86): Show 
a0007
a0008
a0016
a0021
a0033
a0034
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0061
a0062
a0069
a0072
a0073
a0074
a0076
a0091
a0092
a0093
a0094
a0095
a0097
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0118
a0119
a0121
a0122
a0123
a0128
a0162
a0163
a0164
a0165
a0210
a0211
a0212
a0213
a0214
a0215
a0216
a0217
a0218
a0219
a0228
a0230
a0233
a0240
a0267
a0268
a0269
a0270
a0271
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0304
a0305
 108 HG00099.hp1
HG00099.hp2
HG00408.hp1
others(105): Show 
HG00099.hp1
HG00099.hp2
HG00408.hp1
HG00423.hp1
HG00597.hp1
HG00609.hp1
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02145.hp1
HG02155.hp1
HG02258.hp2
HG02280.hp2
HG02523.hp1
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp2
HG03130.hp1
HG03130.hp2
HG03225.hp1
HG03490.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03710.hp1
HG03710.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18943.hp1
NA18945.hp2
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18979.hp1
NA18982.hp1
NA18993.hp1
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19004.hp1
NA19007.hp2
NA19009.hp1
NA19012.hp1
NA19054.hp1
NA19055.hp1
NA19058.hp1
NA19065.hp1
NA19074.hp2
NA19079.hp1
NA19081.hp2
NA19089.hp2
NA19091.hp2
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
 missense_variant MODERATE c.6241C>G
c.6241C>G
 p.Leu2081Val
p.Leu2081Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6316/16005 6241/15267 2081/5088 chr8 143867013
chr8:143867030 T
T
 G
G
 2 a0126
a0127
a0126
a0127
 2 HG00280.hp1
HG00642.hp1
HG00280.hp1
HG00642.hp1
 missense_variant MODERATE c.6224A>C
c.6224A>C
 p.Gln2075Pro
p.Gln2075Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6299/16005 6224/15267 2075/5088 chr8 143867030
chr8:143867144 T
T
 G
G
 1 a0306
a0306
 1 NA18952.hp2
NA18952.hp2
 missense_variant MODERATE c.6110A>C
c.6110A>C
 p.His2037Pro
p.His2037Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6185/16005 6110/15267 2037/5088 chr8 143867144
chr8:143867252 G
G
 A
A
 1 a0099
a0099
 1 HG06807.hp2
HG06807.hp2
 missense_variant MODERATE c.6002C>T
c.6002C>T
 p.Ala2001Val
p.Ala2001Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6077/16005 6002/15267 2001/5088 chr8 143867252
chr8:143867297 G
G
 T
T
 1 a0165
a0165
 1 HG02129.hp1
HG02129.hp1
 missense_variant MODERATE c.5957C>A
c.5957C>A
 p.Thr1986Lys
p.Thr1986Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6032/16005 5957/15267 1986/5088 chr8 143867297
chr8:143867546 G
G
 A
A
 1 a0056
a0056
 1 HG03486.hp1
HG03486.hp1
 missense_variant MODERATE c.5708C>T
c.5708C>T
 p.Thr1903Met
p.Thr1903Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5783/16005 5708/15267 1903/5088 chr8 143867546
chr8:143867555 G
G
 A
A
 1 a0220
a0220
 1 HG02647.hp2
HG02647.hp2
 missense_variant MODERATE c.5699C>T
c.5699C>T
 p.Ala1900Val
p.Ala1900Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5774/16005 5699/15267 1900/5088 chr8 143867555
chr8:143867664 C
C
 T
T
 1 a0241
a0241
 1 HG03490.hp1
HG03490.hp1
 missense_variant MODERATE c.5590G>A
c.5590G>A
 p.Val1864Ile
p.Val1864Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5665/16005 5590/15267 1864/5088 chr8 143867664
chr8:143867735 G
G
 A
A
 1 a0025
a0025
 2 HG03041.hp2
NA19043.hp2
HG03041.hp2
NA19043.hp2
 missense_variant MODERATE c.5519C>T
c.5519C>T
 p.Thr1840Met
p.Thr1840Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5594/16005 5519/15267 1840/5088 chr8 143867735
chr8:143867823 G
G
 A
A
 1 a0096
a0096
 1 NA20752.hp2
NA20752.hp2
 missense_variant MODERATE c.5431C>T
c.5431C>T
 p.Arg1811Trp
p.Arg1811Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5506/16005 5431/15267 1811/5088 chr8 143867823
chr8:143867900 C
C
 T
T
 1 a0100
a0100
 1 NA21309.hp1
NA21309.hp1
 missense_variant MODERATE c.5354G>A
c.5354G>A
 p.Arg1785His
p.Arg1785His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5429/16005 5354/15267 1785/5088 chr8 143867900
chr8:143867948 A
A
 T
T
 1 a0236
a0236
 1 HG01981.hp1
HG01981.hp1
 missense_variant MODERATE c.5306T>A
c.5306T>A
 p.Ile1769Asn
p.Ile1769Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5381/16005 5306/15267 1769/5088 chr8 143867948
chr8:143867955 C
C
 T
T
 13 a0021
a0036
a0037
others(10): Show 
a0021
a0036
a0037
a0050
a0234
a0238
a0239
a0240
a0302
a0303
a0304
a0305
a0306
 17 HG02165.hp1
NA18950.hp2
NA18951.hp2
others(14): Show 
HG02165.hp1
NA18950.hp2
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18982.hp1
NA18986.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19054.hp2
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp2
NA19091.hp2
 missense_variant MODERATE c.5299G>A
c.5299G>A
 p.Val1767Met
p.Val1767Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5374/16005 5299/15267 1767/5088 chr8 143867955
chr8:143868123 C
C
 T
T
 1 a0221
a0221
 1 HG01109.hp1
HG01109.hp1
 missense_variant MODERATE c.5131G>A
c.5131G>A
 p.Asp1711Asn
p.Asp1711Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5206/16005 5131/15267 1711/5088 chr8 143868123
chr8:143868137 C
C
 T
T
 10 a0056
a0057
a0058
others(7): Show 
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0070
a0123
a0128
 10 HG02280.hp2
HG02630.hp2
HG02818.hp2
others(7): Show 
HG02280.hp2
HG02630.hp2
HG02818.hp2
HG02896.hp1
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
NA18906.hp1
 missense_variant MODERATE c.5117G>A
c.5117G>A
 p.Arg1706His
p.Arg1706His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5192/16005 5117/15267 1706/5088 chr8 143868137
chr8:143868194 G
G
 A
A
 1 a0237
a0237
 1 HG01255.hp2
HG01255.hp2
 missense_variant MODERATE c.5060C>T
c.5060C>T
 p.Thr1687Met
p.Thr1687Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5135/16005 5060/15267 1687/5088 chr8 143868194
chr8:143868534 C
C
 G
G
 1 a0098
a0098
 1 HG01109.hp2
HG01109.hp2
 missense_variant MODERATE c.4720G>C
c.4720G>C
 p.Ala1574Pro
p.Ala1574Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4795/16005 4720/15267 1574/5088 chr8 143868534
chr8:143868626 G
G
 A
A
 1 a0164
a0164
 1 NA18972.hp2
NA18972.hp2
 missense_variant MODERATE c.4628C>T
c.4628C>T
 p.Thr1543Met
p.Thr1543Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4703/16005 4628/15267 1543/5088 chr8 143868626
chr8:143868735 T
T
 C
C
 207 a0002
a0003
a0008
others(204): Show 
a0002
a0003
a0008
a0009
a0010
a0013
a0014
a0015
a0016
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0028
a0029
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0049
a0050
a0051
a0053
a0054
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0099
a0100
a0101
a0102
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0125
a0128
a0129
a0130
a0131
a0132
a0133
a0134
a0135
a0136
a0137
a0138
a0139
a0140
a0141
a0142
a0143
a0144
a0145
a0146
a0147
a0148
a0149
a0150
a0151
a0152
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0160
a0161
a0162
a0163
a0223
a0224
a0225
a0226
a0232
a0233
a0234
a0235
a0236
a0237
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0245
a0246
a0247
a0248
a0249
a0250
a0251
a0252
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0268
a0269
a0270
a0271
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0302
a0303
a0304
a0305
a0306
 261 HG00099.hp1
HG00140.hp1
HG00323.hp1
others(258): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02300.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18959.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18973.hp2
NA18974.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18993.hp1
NA18993.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19002.hp2
NA19009.hp2
NA19010.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19066.hp2
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4519A>G
c.4519A>G
 p.Thr1507Ala
p.Thr1507Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4594/16005 4519/15267 1507/5088 chr8 143868735
chr8:143868744 C
C
 T
T
 1 a0222
a0222
 1 NA18963.hp1
NA18963.hp1
 missense_variant MODERATE c.4510G>A
c.4510G>A
 p.Ala1504Thr
p.Ala1504Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4585/16005 4510/15267 1504/5088 chr8 143868744
chr8:143868780 A
A
 G
G
 1 a0126
a0126
 1 HG00280.hp1
HG00280.hp1
 missense_variant MODERATE c.4474T>C
c.4474T>C
 p.Ser1492Pro
p.Ser1492Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4549/16005 4474/15267 1492/5088 chr8 143868780
chr8:143868816 C
C
 T
T
 1 a0302
a0302
 1 HG02165.hp1
HG02165.hp1
 missense_variant MODERATE c.4438G>A
c.4438G>A
 p.Ala1480Thr
p.Ala1480Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4513/16005 4438/15267 1480/5088 chr8 143868816
chr8:143868855 C
C
 T
T
 2 a0235
a0236
a0235
a0236
 2 HG01123.hp1
HG01981.hp1
HG01123.hp1
HG01981.hp1
 missense_variant MODERATE c.4399G>A
c.4399G>A
 p.Val1467Met
p.Val1467Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4474/16005 4399/15267 1467/5088 chr8 143868855
chr8:143868978 C
C
 T
T
 1 a0099
a0099
 1 HG06807.hp2
HG06807.hp2
 missense_variant MODERATE c.4276G>A
c.4276G>A
 p.Glu1426Lys
p.Glu1426Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4351/16005 4276/15267 1426/5088 chr8 143868978
chr8:143869055 T
T
 C
C
 4 a0117
a0118
a0119
others(1): Show 
a0117
a0118
a0119
a0223
 4 HG02145.hp1
HG02922.hp1
NA19030.hp1
others(1): Show 
HG02145.hp1
HG02922.hp1
NA19030.hp1
NA20300.hp2
 missense_variant MODERATE c.4199A>G
c.4199A>G
 p.Asn1400Ser
p.Asn1400Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4274/16005 4199/15267 1400/5088 chr8 143869055
chr8:143869221 C
C
 T
T
 1 a0224
a0224
 1 HG02300.hp1
HG02300.hp1
 missense_variant MODERATE c.4033G>A
c.4033G>A
 p.Gly1345Arg
p.Gly1345Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4108/16005 4033/15267 1345/5088 chr8 143869221
chr8:143869274 T
T
 C
C
 1 a0071
a0071
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.3980A>G
c.3980A>G
 p.Tyr1327Cys
p.Tyr1327Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4055/16005 3980/15267 1327/5088 chr8 143869274
chr8:143869475 G
G
 A
A
 4 a0120
a0121
a0122
others(1): Show 
a0120
a0121
a0122
a0123
 4 HG02630.hp1
HG02717.hp2
NA18906.hp1
others(1): Show 
HG02630.hp1
HG02717.hp2
NA18906.hp1
NA18906.hp2
 missense_variant MODERATE c.3779C>T
c.3779C>T
 p.Ala1260Val
p.Ala1260Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3854/16005 3779/15267 1260/5088 chr8 143869475
chr8:143869506 C
C
 T
T
 1 a0225
a0225
 1 HG03540.hp2
HG03540.hp2
 missense_variant MODERATE c.3748G>A
c.3748G>A
 p.Gly1250Ser
p.Gly1250Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3823/16005 3748/15267 1250/5088 chr8 143869506
chr8:143869718 A
A
 G
G
 1 a0077
a0077
 1 HG03017.hp2
HG03017.hp2
 missense_variant MODERATE c.3536T>C
c.3536T>C
 p.Val1179Ala
p.Val1179Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3611/16005 3536/15267 1179/5088 chr8 143869718
chr8:143869817 T
T
 C
C
 1 a0049
a0049
 2 HG03490.hp2
HG03492.hp2
HG03490.hp2
HG03492.hp2
 missense_variant MODERATE c.3437A>G
c.3437A>G
 p.Asp1146Gly
p.Asp1146Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3512/16005 3437/15267 1146/5088 chr8 143869817
chr8:143869899 C
C
 T
T
 2 a0027
a0097
a0027
a0097
 3 HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02258.hp2
HG02895.hp1
HG02896.hp2
 missense_variant MODERATE c.3355G>A
c.3355G>A
 p.Ala1119Thr
p.Ala1119Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3430/16005 3355/15267 1119/5088 chr8 143869899
chr8:143869980 G
G
 A
A
 2 a0098
a0099
a0098
a0099
 2 HG01109.hp2
HG06807.hp2
HG01109.hp2
HG06807.hp2
 missense_variant MODERATE c.3274C>T
c.3274C>T
 p.Arg1092Cys
p.Arg1092Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3349/16005 3274/15267 1092/5088 chr8 143869980
chr8:143870057 C
C
 T
T
 3 a0012
a0126
a0127
a0012
a0126
a0127
 5 HG00280.hp1
HG00642.hp1
HG01069.hp2
others(2): Show 
HG00280.hp1
HG00642.hp1
HG01069.hp2
HG01071.hp1
HG01934.hp2
 missense_variant MODERATE c.3197G>A
c.3197G>A
 p.Arg1066His
p.Arg1066His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3272/16005 3197/15267 1066/5088 chr8 143870057
chr8:143870058 G
G
 A
A
 1 a0076
a0076
 1 HG04184.hp2
HG04184.hp2
 missense_variant MODERATE c.3196C>T
c.3196C>T
 p.Arg1066Cys
p.Arg1066Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3271/16005 3196/15267 1066/5088 chr8 143870058
chr8:143870192 G
G
 C
C
 1 a0075
a0075
 1 NA19084.hp2
NA19084.hp2
 missense_variant MODERATE c.3062C>G
c.3062C>G
 p.Ser1021Cys
p.Ser1021Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3137/16005 3062/15267 1021/5088 chr8 143870192
chr8:143870231 A
A
 C
C
 1 a0302
a0302
 1 HG02165.hp1
HG02165.hp1
 missense_variant MODERATE c.3023T>G
c.3023T>G
 p.Ile1008Ser
p.Ile1008Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3098/16005 3023/15267 1008/5088 chr8 143870231
chr8:143870292 C
C
 A
A
 2 a0035
a0229
a0035
a0229
 3 HG02027.hp2
NA18973.hp1
NA18997.hp1
HG02027.hp2
NA18973.hp1
NA18997.hp1
 missense_variant MODERATE c.2962G>T
c.2962G>T
 p.Val988Leu
p.Val988Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3037/16005 2962/15267 988/5088 chr8 143870292
chr8:143870448 G
G
 A
A
 1 a0226
a0226
 1 NA19076.hp1
NA19076.hp1
 missense_variant MODERATE c.2806C>T
c.2806C>T
 p.Arg936Trp
p.Arg936Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2881/16005 2806/15267 936/5088 chr8 143870448
chr8:143870696 C
C
 T
T
 2 a0027
a0097
a0027
a0097
 3 HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02258.hp2
HG02895.hp1
HG02896.hp2
 missense_variant MODERATE c.2558G>A
c.2558G>A
 p.Arg853His
p.Arg853His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2633/16005 2558/15267 853/5088 chr8 143870696
chr8:143870903 C
C
 T
T
 3 a0036
a0050
a0234
a0036
a0050
a0234
 4 NA18950.hp2
NA18986.hp2
NA18997.hp2
others(1): Show 
NA18950.hp2
NA18986.hp2
NA18997.hp2
NA19082.hp1
 missense_variant MODERATE c.2351G>A
c.2351G>A
 p.Arg784His
p.Arg784His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2426/16005 2351/15267 784/5088 chr8 143870903
chr8:143870924 G
G
 T
T
 1 a0125
a0125
 1 HG02622.hp1
HG02622.hp1
 missense_variant MODERATE c.2330C>A
c.2330C>A
 p.Thr777Lys
p.Thr777Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2405/16005 2330/15267 777/5088 chr8 143870924
chr8:143871023 T
T
 C
C
 27 a0003
a0009
a0026
others(24): Show 
a0003
a0009
a0026
a0053
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0233
 36 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(33): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG02004.hp1
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03654.hp1
HG03710.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19084.hp2
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.2231A>G
c.2231A>G
 p.Tyr744Cys
p.Tyr744Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2306/16005 2231/15267 744/5088 chr8 143871023
chr8:143871102 G
G
 A
A
 1 a0074
a0074
 1 NA18747.hp2
NA18747.hp2
 missense_variant MODERATE c.2152C>T
c.2152C>T
 p.Arg718Cys
p.Arg718Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2227/16005 2152/15267 718/5088 chr8 143871102
chr8:143871108 C
C
 T
T
 1 a0070
a0070
 1 HG03471.hp2
HG03471.hp2
 missense_variant MODERATE c.2146G>A
c.2146G>A
 p.Gly716Ser
p.Gly716Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2221/16005 2146/15267 716/5088 chr8 143871108
chr8:143871206 G
G
 A
A
 1 a0124
a0124
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.2048C>T
c.2048C>T
 p.Ser683Leu
p.Ser683Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2123/16005 2048/15267 683/5088 chr8 143871206
chr8:143871218 G
G
 A
A
 2 a0227
a0228
a0227
a0228
 2 HG00408.hp1
HG00673.hp1
HG00408.hp1
HG00673.hp1
 missense_variant MODERATE c.2036C>T
c.2036C>T
 p.Ala679Val
p.Ala679Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2111/16005 2036/15267 679/5088 chr8 143871218
chr8:143871504 C
C
 T
T
 3 a0303
a0304
a0305
a0303
a0304
a0305
 3 NA18951.hp2
NA18982.hp1
NA19089.hp2
NA18951.hp2
NA18982.hp1
NA19089.hp2
 missense_variant MODERATE c.1750G>A
c.1750G>A
 p.Glu584Lys
p.Glu584Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1825/16005 1750/15267 584/5088 chr8 143871504
chr8:143871574 A
A
 AAAGGTGA
others(5): Show 
AAAGGTGACCCTG
 3 a0025
a0072
a0073
a0025
a0072
a0073
 4 HG02109.hp1
HG02965.hp2
HG03041.hp2
others(1): Show 
HG02109.hp1
HG02965.hp2
HG03041.hp2
NA19043.hp2
 disruptive_inframe_insertion MODERATE c.1668_1679dupCAGGGT
others(6): Show 
c.1668_1679dupCAGGGTCACCTT
 p.Phe560_Ser561insAr
others(10): Show 
p.Phe560_Ser561insArgValThrPhe
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1754/16005 1679/15267 560/5088 chr8 143871574
chr8:143871624 T
T
 C
C
 174 a0003
a0008
a0009
others(171): Show 
a0003
a0008
a0009
a0010
a0011
a0021
a0022
a0023
a0024
a0025
a0026
a0027
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0048
a0049
a0050
a0051
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0099
a0100
a0101
a0102
a0103
a0104
a0105
a0106
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0232
a0233
a0234
a0235
a0236
a0237
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0245
a0246
a0247
a0248
a0249
a0250
a0251
a0252
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0268
a0269
a0270
a0271
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0297
a0298
a0299
a0300
a0301
a0302
a0303
a0304
a0305
a0306
 213 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(210): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02895.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG06807.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.1630A>G
c.1630A>G
 p.Lys544Glu
p.Lys544Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1705/16005 1630/15267 544/5088 chr8 143871624
chr8:143871744 G
G
 A
A
 2 a0035
a0229
a0035
a0229
 3 HG02027.hp2
NA18973.hp1
NA18997.hp1
HG02027.hp2
NA18973.hp1
NA18997.hp1
 missense_variant MODERATE c.1510C>T
c.1510C>T
 p.Arg504Trp
p.Arg504Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1585/16005 1510/15267 504/5088 chr8 143871744
chr8:143871837 G
G
 A
A
 1 a0055
a0055
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.1417C>T
c.1417C>T
 p.Arg473Trp
p.Arg473Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1492/16005 1417/15267 473/5088 chr8 143871837
chr8:143871956 G
G
 A
A
 1 a0071
a0071
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.1298C>T
c.1298C>T
 p.Ser433Leu
p.Ser433Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1373/16005 1298/15267 433/5088 chr8 143871956
chr8:143872020 G
G
 A
A
 1 a0230
a0230
 1 HG02683.hp1
HG02683.hp1
 missense_variant MODERATE c.1234C>T
c.1234C>T
 p.Arg412Trp
p.Arg412Trp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1309/16005 1234/15267 412/5088 chr8 143872020
chr8:143872103 C
C
 T
T
 16 a0024
a0056
a0057
others(13): Show 
a0024
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0065
a0066
a0067
a0068
a0069
a0070
 17 HG02145.hp2
HG02280.hp2
HG02630.hp2
others(14): Show 
HG02145.hp2
HG02280.hp2
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG02809.hp1
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03579.hp1
NA19240.hp1
 missense_variant MODERATE c.1151G>A
c.1151G>A
 p.Gly384Glu
p.Gly384Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1226/16005 1151/15267 384/5088 chr8 143872103
chr8:143872254 C
C
 T
T
 1 a0306
a0306
 1 NA18952.hp2
NA18952.hp2
 missense_variant MODERATE c.1000G>A
c.1000G>A
 p.Gly334Ser
p.Gly334Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1075/16005 1000/15267 334/5088 chr8 143872254
chr8:143872434 G
G
 A
A
 2 a0054
a0055
a0054
a0055
 2 HG01884.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp2
 missense_variant MODERATE c.820C>T
c.820C>T
 p.Arg274Cys
p.Arg274Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 895/16005 820/15267 274/5088 chr8 143872434
chr8:143872469 C
C
 T
T
 1 a0232
a0232
 1 HG01167.hp1
HG01167.hp1
 missense_variant MODERATE c.785G>A
c.785G>A
 p.Arg262Gln
p.Arg262Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 860/16005 785/15267 262/5088 chr8 143872469
chr8:143872542 T
T
 C
C
 1 a0231
a0231
 1 NA18949.hp2
NA18949.hp2
 missense_variant MODERATE c.712A>G
c.712A>G
 p.Met238Val
p.Met238Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 787/16005 712/15267 238/5088 chr8 143872542
chr8:143872631 C
C
 T
T
 1 a0053
a0053
 1 NA18953.hp1
NA18953.hp1
 missense_variant MODERATE c.623G>A
c.623G>A
 p.Arg208Gln
p.Arg208Gln
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 698/16005 623/15267 208/5088 chr8 143872631
chr8:143872650 C
C
 T
T
 95 a0008
a0021
a0022
others(92): Show 
a0008
a0021
a0022
a0023
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0047
a0048
a0049
a0050
a0051
a0232
a0233
a0234
a0235
a0236
a0237
a0238
a0239
a0240
a0241
a0242
a0243
a0244
a0245
a0246
a0247
a0248
a0249
a0250
a0251
a0252
a0253
a0254
a0255
a0256
a0257
a0258
a0259
a0260
a0261
a0262
a0263
a0264
a0265
a0266
a0267
a0268
a0269
a0270
a0271
a0272
a0273
a0274
a0275
a0276
a0277
a0278
a0279
a0280
a0281
a0282
a0283
a0284
a0285
a0286
a0287
a0288
a0289
a0290
a0291
a0292
a0293
a0294
a0295
a0296
a0297
a0298
a0299
a0300
a0301
a0302
a0303
a0304
a0305
a0306
 118 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(115): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02165.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 missense_variant MODERATE c.604G>A
c.604G>A
 p.Asp202Asn
p.Asp202Asn
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 679/16005 604/15267 202/5088 chr8 143872650
chr8:143872749 C
C
 T
T
 1 a0052
a0052
 1 HG01934.hp1
HG01934.hp1
 missense_variant MODERATE c.505G>A
c.505G>A
 p.Val169Met
p.Val169Met
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 580/16005 505/15267 169/5088 chr8 143872749
chr8:143872906 C
C
 A
A
 1 a0051
a0051
 1 HG03831.hp2
HG03831.hp2
 missense_variant MODERATE c.348G>T
c.348G>T
 p.Glu116Asp
p.Glu116Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 423/16005 348/15267 116/5088 chr8 143872906
chr8:143873055 G
G
 C
C
 1 a0050
a0050
 1 NA18950.hp2
NA18950.hp2
 missense_variant MODERATE c.199C>G
c.199C>G
 p.Pro67Ala
p.Pro67Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 274/16005 199/15267 67/5088 chr8 143873055

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
chr8:143858050 A
A
 C
C
 5 a0014c0044
a0014c0280
a0130c0283
others(2): Show 
a0014c0044
a0014c0280
a0130c0283
a0153c0279
a0257c0083
 6 HG01070.hp1
HG01071.hp2
HG01099.hp2
others(3): Show 
HG01070.hp1
HG01071.hp2
HG01099.hp2
HG01243.hp2
HG02735.hp2
HG04228.hp1
 synonymous_variant LOW c.15204T>G
c.15204T>G
 p.Leu5068Leu
p.Leu5068Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15279/16005 15204/15267 5068/5088 chr8 143858050
chr8:143858128 G
G
 A
A
 4 a0077c0175
a0084c0191
a0087c0192
others(1): Show 
a0077c0175
a0084c0191
a0087c0192
a0130c0283
 4 HG00140.hp1
HG01099.hp2
HG01928.hp1
others(1): Show 
HG00140.hp1
HG01099.hp2
HG01928.hp1
HG03017.hp2
 synonymous_variant LOW c.15126C>T
c.15126C>T
 p.Arg5042Arg
p.Arg5042Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15201/16005 15126/15267 5042/5088 chr8 143858128
chr8:143858170 G
G
 A
A
 1 a0121c0333
a0121c0333
 1 HG02630.hp1
HG02630.hp1
 synonymous_variant LOW c.15084C>T
c.15084C>T
 p.Asp5028Asp
p.Asp5028Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15159/16005 15084/15267 5028/5088 chr8 143858170
chr8:143858206 G
G
 A
A
 2 a0210c0263
a0215c0269
a0210c0263
a0215c0269
 2 HG00099.hp2
HG00738.hp1
HG00099.hp2
HG00738.hp1
 synonymous_variant LOW c.15048C>T
c.15048C>T
 p.Val5016Val
p.Val5016Val
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 15123/16005 15048/15267 5016/5088 chr8 143858206
chr8:143858386 G
G
 A
A
 5 a0110c0046
a0111c0047
a0112c0045
others(2): Show 
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0209c0214
 5 HG02723.hp2
HG03130.hp2
HG03139.hp1
others(2): Show 
HG02723.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
 synonymous_variant LOW c.14868C>T
c.14868C>T
 p.Ala4956Ala
p.Ala4956Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14943/16005 14868/15267 4956/5088 chr8 143858386
chr8:143858425 G
G
 A
A
 2 a0004c0011
a0004c0234
a0004c0011
a0004c0234
 4 NA18956.hp1
NA18975.hp1
NA19007.hp1
others(1): Show 
NA18956.hp1
NA18975.hp1
NA19007.hp1
NA19064.hp2
 synonymous_variant LOW c.14829C>T
c.14829C>T
 p.Pro4943Pro
p.Pro4943Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14904/16005 14829/15267 4943/5088 chr8 143858425
chr8:143858518 G
G
 A
A
 1 a0001c0035
a0001c0035
 2 HG01516.hp2
HG01517.hp1
HG01516.hp2
HG01517.hp1
 synonymous_variant LOW c.14736C>T
c.14736C>T
 p.Ser4912Ser
p.Ser4912Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14811/16005 14736/15267 4912/5088 chr8 143858518
chr8:143858566 G
G
 A
A
 1 a0133c0310
a0133c0310
 1 NA18522.hp2
NA18522.hp2
 synonymous_variant LOW c.14688C>T
c.14688C>T
 p.Gly4896Gly
p.Gly4896Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14763/16005 14688/15267 4896/5088 chr8 143858566
chr8:143858755 C
C
 G
G
 4 a0054c0340
a0055c0341
a0187c0240
others(1): Show 
a0054c0340
a0055c0341
a0187c0240
a0223c0325
 4 HG01884.hp1
NA19030.hp1
NA19030.hp2
others(1): Show 
HG01884.hp1
NA19030.hp1
NA19030.hp2
NA19080.hp2
 synonymous_variant LOW c.14499G>C
c.14499G>C
 p.Thr4833Thr
p.Thr4833Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14574/16005 14499/15267 4833/5088 chr8 143858755
chr8:143858890 C
C
 T
T
 2 a0210c0263
a0215c0269
a0210c0263
a0215c0269
 2 HG00099.hp2
HG00738.hp1
HG00099.hp2
HG00738.hp1
 synonymous_variant LOW c.14364G>A
c.14364G>A
 p.Pro4788Pro
p.Pro4788Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14439/16005 14364/15267 4788/5088 chr8 143858890
chr8:143858941 G
G
 T
T
 1 a0089c0183
a0089c0183
 1 HG04204.hp1
HG04204.hp1
 synonymous_variant LOW c.14313C>A
c.14313C>A
 p.Thr4771Thr
p.Thr4771Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14388/16005 14313/15267 4771/5088 chr8 143858941
chr8:143859064 G
G
 A
A
 3 a0029c0040
a0132c0286
a0147c0304
a0029c0040
a0132c0286
a0147c0304
 4 HG02280.hp1
HG02809.hp2
HG02895.hp2
others(1): Show 
HG02280.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
 synonymous_variant LOW c.14190C>T
c.14190C>T
 p.Arg4730Arg
p.Arg4730Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14265/16005 14190/15267 4730/5088 chr8 143859064
chr8:143859130 C
C
 T
T
 6 a0056c0158
a0057c0153
a0058c0155
others(3): Show 
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0117c0051
 6 HG02818.hp2
HG03098.hp2
HG03139.hp2
others(3): Show 
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03486.hp1
NA20300.hp2
 synonymous_variant LOW c.14124G>A
c.14124G>A
 p.Leu4708Leu
p.Leu4708Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14199/16005 14124/15267 4708/5088 chr8 143859130
chr8:143859286 C
C
 G
G
 1 a0081c0194
a0081c0194
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.13968G>C
c.13968G>C
 p.Ala4656Ala
p.Ala4656Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 14043/16005 13968/15267 4656/5088 chr8 143859286
chr8:143859400 C
C
 T
T
 2 a0248c0109
a0249c0108
a0248c0109
a0249c0108
 2 NA18949.hp1
NA18979.hp2
NA18949.hp1
NA18979.hp2
 synonymous_variant LOW c.13854G>A
c.13854G>A
 p.Glu4618Glu
p.Glu4618Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13929/16005 13854/15267 4618/5088 chr8 143859400
chr8:143859418 C
C
 T
T
 1 a0220c0274
a0220c0274
 1 HG02647.hp2
HG02647.hp2
 synonymous_variant LOW c.13836G>A
c.13836G>A
 p.Ala4612Ala
p.Ala4612Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13911/16005 13836/15267 4612/5088 chr8 143859418
chr8:143859466 G
G
 A
A
 6 a0114c0173
a0115c0172
a0124c0327
others(3): Show 
a0114c0173
a0115c0172
a0124c0327
a0141c0301
a0194c0230
a0224c0204
 6 HG02257.hp2
HG02258.hp1
HG02300.hp1
others(3): Show 
HG02257.hp2
HG02258.hp1
HG02300.hp1
HG02572.hp1
HG03130.hp1
NA20129.hp2
 synonymous_variant LOW c.13788C>T
c.13788C>T
 p.Arg4596Arg
p.Arg4596Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13863/16005 13788/15267 4596/5088 chr8 143859466
chr8:143859538 G
G
 A
A
 1 a0237c0139
a0237c0139
 1 HG01255.hp2
HG01255.hp2
 synonymous_variant LOW c.13716C>T
c.13716C>T
 p.Asp4572Asp
p.Asp4572Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13791/16005 13716/15267 4572/5088 chr8 143859538
chr8:143859610 G
G
 A
A
 8 a0061c0157
a0062c0156
a0069c0151
others(5): Show 
a0061c0157
a0062c0156
a0069c0151
a0070c0145
a0097c0330
a0100c0049
a0121c0333
a0123c0331
 8 HG02258.hp2
HG02280.hp2
HG02630.hp1
others(5): Show 
HG02258.hp2
HG02280.hp2
HG02630.hp1
HG02630.hp2
HG03225.hp1
HG03471.hp2
NA18906.hp1
NA21309.hp1
 synonymous_variant LOW c.13644C>T
c.13644C>T
 p.Tyr4548Tyr
p.Tyr4548Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13719/16005 13644/15267 4548/5088 chr8 143859610
chr8:143859694 G
G
 A
A
 10 a0039c0023
a0042c0092
a0047c0025
others(7): Show 
a0039c0023
a0042c0092
a0047c0025
a0051c0345
a0089c0183
a0093c0176
a0157c0278
a0241c0079
a0259c0097
a0263c0100
 12 HG00099.hp1
HG00609.hp1
HG02602.hp1
others(9): Show 
HG00099.hp1
HG00609.hp1
HG02602.hp1
HG03239.hp2
HG03490.hp1
HG03654.hp1
HG03831.hp2
HG04184.hp1
HG04204.hp1
HG04228.hp2
NA19011.hp2
NA19074.hp2
 synonymous_variant LOW c.13560C>T
c.13560C>T
 p.Gly4520Gly
p.Gly4520Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13635/16005 13560/15267 4520/5088 chr8 143859694
chr8:143859727 A
A
 G
G
 123 a0003c0008
a0003c0030
a0003c0031
others(120): Show 
a0003c0008
a0003c0030
a0003c0031
a0007c0013
a0007c0273
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0014c0044
a0014c0280
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0026c0185
a0026c0186
a0030c0257
a0030c0258
a0033c0213
a0033c0268
a0037c0075
a0037c0143
a0038c0019
a0040c0018
a0041c0022
a0042c0088
a0043c0085
a0043c0089
a0045c0027
a0046c0026
a0049c0028
a0053c0144
a0054c0340
a0075c0199
a0076c0198
a0079c0342
a0080c0195
a0082c0193
a0090c0184
a0091c0180
a0092c0182
a0094c0181
a0096c0197
a0105c0338
a0129c0311
a0130c0283
a0153c0279
a0154c0291
a0155c0292
a0156c0290
a0158c0289
a0159c0288
a0162c0284
a0163c0313
a0164c0276
a0165c0207
a0166c0212
a0202c0218
a0206c0221
a0207c0219
a0208c0220
a0210c0263
a0211c0262
a0215c0269
a0216c0264
a0217c0267
a0218c0266
a0219c0265
a0222c0205
a0228c0328
a0230c0337
a0232c0057
a0233c0142
a0235c0068
a0236c0067
a0238c0077
a0240c0078
a0242c0116
a0243c0115
a0244c0111
a0253c0080
a0254c0081
a0255c0141
a0257c0083
a0258c0106
a0260c0103
a0261c0105
a0262c0104
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0269c0123
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0285c0124
a0286c0061
a0288c0086
a0289c0126
a0290c0128
a0291c0127
a0292c0125
a0293c0136
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 141 HG00099.hp2
HG00323.hp1
HG00323.hp2
others(138): Show 
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp2
HG01981.hp1
HG02004.hp1
HG02055.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
 synonymous_variant LOW c.13527T>C
c.13527T>C
 p.Arg4509Arg
p.Arg4509Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13602/16005 13527/15267 4509/5088 chr8 143859727
chr8:143859781 G
G
 A
A
 1 a0100c0049
a0100c0049
 1 NA21309.hp1
NA21309.hp1
 synonymous_variant LOW c.13473C>T
c.13473C>T
 p.Arg4491Arg
p.Arg4491Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13548/16005 13473/15267 4491/5088 chr8 143859781
chr8:143859784 G
G
 A
A
 1 a0048c0072
a0048c0072
 1 HG00280.hp2
HG00280.hp2
 synonymous_variant LOW c.13470C>T
c.13470C>T
 p.His4490His
p.His4490His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13545/16005 13470/15267 4490/5088 chr8 143859784
chr8:143859799 G
G
 A
A
 1 a0075c0199
a0075c0199
 1 NA19084.hp2
NA19084.hp2
 synonymous_variant LOW c.13455C>T
c.13455C>T
 p.Asp4485Asp
p.Asp4485Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13530/16005 13455/15267 4485/5088 chr8 143859799
chr8:143860054 C
C
 T
T
 1 a0224c0204
a0224c0204
 1 HG02300.hp1
HG02300.hp1
 synonymous_variant LOW c.13200G>A
c.13200G>A
 p.Ala4400Ala
p.Ala4400Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13275/16005 13200/15267 4400/5088 chr8 143860054
chr8:143860273 C
C
 G
G
 1 a0159c0288
a0159c0288
 1 NA19055.hp2
NA19055.hp2
 synonymous_variant LOW c.12981G>C
c.12981G>C
 p.Leu4327Leu
p.Leu4327Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 13056/16005 12981/15267 4327/5088 chr8 143860273
chr8:143860354 C
C
 G
G
 7 a0054c0340
a0055c0341
a0075c0199
others(4): Show 
a0054c0340
a0055c0341
a0075c0199
a0079c0342
a0194c0230
a0248c0109
a0249c0108
 7 HG01884.hp1
HG02257.hp2
NA18949.hp1
others(4): Show 
HG01884.hp1
HG02257.hp2
NA18949.hp1
NA18974.hp1
NA18979.hp2
NA19030.hp2
NA19084.hp2
 synonymous_variant LOW c.12900G>C
c.12900G>C
 p.Thr4300Thr
p.Thr4300Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12975/16005 12900/15267 4300/5088 chr8 143860354
chr8:143860414 C
C
 T
T
 5 a0002c0320
a0016c0312
a0016c0319
others(2): Show 
a0002c0320
a0016c0312
a0016c0319
a0016c0322
a0136c0321
 5 HG02071.hp2
HG02080.hp2
NA18943.hp1
others(2): Show 
HG02071.hp2
HG02080.hp2
NA18943.hp1
NA18973.hp2
NA18993.hp1
 synonymous_variant LOW c.12840G>A
c.12840G>A
 p.Ala4280Ala
p.Ala4280Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12915/16005 12840/15267 4280/5088 chr8 143860414
chr8:143860579 G
G
 A
A
 1 a0125c0200
a0125c0200
 1 HG02622.hp1
HG02622.hp1
 synonymous_variant LOW c.12675C>T
c.12675C>T
 p.Ala4225Ala
p.Ala4225Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12750/16005 12675/15267 4225/5088 chr8 143860579
chr8:143860807 G
G
 A
A
 4 a0029c0040
a0121c0333
a0123c0331
others(1): Show 
a0029c0040
a0121c0333
a0123c0331
a0132c0286
 5 HG02630.hp1
HG02809.hp2
HG02895.hp2
others(2): Show 
HG02630.hp1
HG02809.hp2
HG02895.hp2
HG03041.hp1
NA18906.hp1
 synonymous_variant LOW c.12447C>T
c.12447C>T
 p.Ala4149Ala
p.Ala4149Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12522/16005 12447/15267 4149/5088 chr8 143860807
chr8:143860810 C
C
 T
T
 1 a0082c0193
a0082c0193
 1 HG00323.hp1
HG00323.hp1
 synonymous_variant LOW c.12444G>A
c.12444G>A
 p.Arg4148Arg
p.Arg4148Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12519/16005 12444/15267 4148/5088 chr8 143860810
chr8:143860894 C
C
 G
G
 12 a0003c0008
a0003c0030
a0003c0031
others(9): Show 
a0003c0008
a0003c0030
a0003c0031
a0076c0198
a0080c0195
a0092c0182
a0129c0311
a0166c0212
a0228c0328
a0242c0116
a0243c0115
a0267c0137
 16 HG00408.hp1
HG00423.hp1
HG00621.hp1
others(13): Show 
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
NA21309.hp2
 synonymous_variant LOW c.12360G>C
c.12360G>C
 p.Ala4120Ala
p.Ala4120Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12435/16005 12360/15267 4120/5088 chr8 143860894
chr8:143860993 G
G
 A
A
 1 a0019c0245
a0019c0245
 1 HG02976.hp2
HG02976.hp2
 synonymous_variant LOW c.12261C>T
c.12261C>T
 p.Gly4087Gly
p.Gly4087Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12336/16005 12261/15267 4087/5088 chr8 143860993
chr8:143861002 C
C
 T
T
 8 a0024c0029
a0056c0158
a0057c0153
others(5): Show 
a0024c0029
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0103c0170
a0117c0051
 9 HG01192.hp1
HG02818.hp2
HG03098.hp2
others(6): Show 
HG01192.hp1
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03579.hp1
NA20300.hp2
 synonymous_variant LOW c.12252G>A
c.12252G>A
 p.Glu4084Glu
p.Glu4084Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12327/16005 12252/15267 4084/5088 chr8 143861002
chr8:143861119 C
C
 T
T
 1 a0125c0200
a0125c0200
 1 HG02622.hp1
HG02622.hp1
 synonymous_variant LOW c.12135G>A
c.12135G>A
 p.Ser4045Ser
p.Ser4045Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12210/16005 12135/15267 4045/5088 chr8 143861119
chr8:143861296 G
G
 A
A
 68 a0007c0013
a0007c0273
a0014c0044
others(65): Show 
a0007c0013
a0007c0273
a0014c0044
a0014c0280
a0021c0006
a0023c0095
a0023c0096
a0023c0102
a0026c0185
a0026c0186
a0030c0257
a0030c0258
a0033c0213
a0033c0268
a0037c0075
a0037c0143
a0040c0018
a0041c0022
a0044c0020
a0053c0144
a0089c0183
a0090c0184
a0094c0181
a0105c0338
a0154c0291
a0155c0292
a0156c0290
a0157c0278
a0158c0289
a0159c0288
a0162c0284
a0163c0313
a0164c0276
a0165c0207
a0207c0219
a0208c0220
a0211c0262
a0217c0267
a0218c0266
a0219c0265
a0222c0205
a0233c0142
a0238c0077
a0239c0076
a0240c0078
a0256c0082
a0260c0103
a0261c0105
a0262c0104
a0263c0100
a0264c0099
a0265c0101
a0266c0098
a0274c0135
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0286c0061
a0288c0086
a0290c0128
a0291c0127
a0293c0136
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 76 HG00408.hp2
HG00621.hp2
HG00741.hp1
others(73): Show 
HG00408.hp2
HG00621.hp2
HG00741.hp1
HG01070.hp1
HG01071.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp1
HG02074.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02698.hp2
HG02735.hp2
HG03017.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG04115.hp1
HG04115.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.11958C>T
c.11958C>T
 p.Gly3986Gly
p.Gly3986Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12033/16005 11958/15267 3986/5088 chr8 143861296
chr8:143861329 A
A
 G
G
 10 a0041c0022
a0054c0340
a0074c0335
others(7): Show 
a0041c0022
a0054c0340
a0074c0335
a0145c0309
a0242c0116
a0253c0080
a0266c0098
a0269c0123
a0273c0090
a0304c0064
 11 HG00408.hp2
HG00621.hp2
HG00673.hp2
others(8): Show 
HG00408.hp2
HG00621.hp2
HG00673.hp2
HG01361.hp2
HG01884.hp1
HG02055.hp1
HG03209.hp2
HG03491.hp2
NA18747.hp2
NA19076.hp2
NA19089.hp2
 synonymous_variant LOW c.11925T>C
c.11925T>C
 p.Arg3975Arg
p.Arg3975Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 12000/16005 11925/15267 3975/5088 chr8 143861329
chr8:143861350 G
G
 A
A
 1 a0302c0066
a0302c0066
 1 HG02165.hp1
HG02165.hp1
 synonymous_variant LOW c.11904C>T
c.11904C>T
 p.Tyr3968Tyr
p.Tyr3968Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11979/16005 11904/15267 3968/5088 chr8 143861350
chr8:143861371 G
G
 A
A
 2 a0002c0299
a0121c0333
a0002c0299
a0121c0333
 2 HG02630.hp1
HG04204.hp2
HG02630.hp1
HG04204.hp2
 synonymous_variant LOW c.11883C>T
c.11883C>T
 p.Asp3961Asp
p.Asp3961Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11958/16005 11883/15267 3961/5088 chr8 143861371
chr8:143861449 G
G
 A
A
 1 a0256c0082
a0256c0082
 1 HG02293.hp1
HG02293.hp1
 synonymous_variant LOW c.11805C>T
c.11805C>T
 p.His3935His
p.His3935His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11880/16005 11805/15267 3935/5088 chr8 143861449
chr8:143861644 G
G
 A
A
 1 a0086c0189
a0086c0189
 1 HG04199.hp1
HG04199.hp1
 synonymous_variant LOW c.11610C>T
c.11610C>T
 p.Thr3870Thr
p.Thr3870Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11685/16005 11610/15267 3870/5088 chr8 143861644
chr8:143861650 C
C
 T
T
 2 a0216c0264
a0285c0124
a0216c0264
a0285c0124
 2 NA18975.hp2
NA18979.hp1
NA18975.hp2
NA18979.hp1
 synonymous_variant LOW c.11604G>A
c.11604G>A
 p.Ala3868Ala
p.Ala3868Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11679/16005 11604/15267 3868/5088 chr8 143861650
chr8:143861695 G
G
 A
A
 1 a0280c0134
a0280c0134
 1 HG01515.hp1
HG01515.hp1
 synonymous_variant LOW c.11559C>T
c.11559C>T
 p.Gly3853Gly
p.Gly3853Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11634/16005 11559/15267 3853/5088 chr8 143861695
chr8:143861761 C
C
 T
T
 1 a0081c0194
a0081c0194
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.11493G>A
c.11493G>A
 p.Leu3831Leu
p.Leu3831Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11568/16005 11493/15267 3831/5088 chr8 143861761
chr8:143861770 C
C
 T
T
 1 a0026c0185
a0026c0185
 1 HG04115.hp2
HG04115.hp2
 synonymous_variant LOW c.11484G>A
c.11484G>A
 p.Ala3828Ala
p.Ala3828Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11559/16005 11484/15267 3828/5088 chr8 143861770
chr8:143861890 G
G
 A
A
 1 a0258c0106
a0258c0106
 1 HG01358.hp1
HG01358.hp1
 synonymous_variant LOW c.11364C>T
c.11364C>T
 p.His3788His
p.His3788His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11439/16005 11364/15267 3788/5088 chr8 143861890
chr8:143861956 C
C
 G
G
 16 a0024c0029
a0054c0340
a0056c0158
others(13): Show 
a0024c0029
a0054c0340
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0080c0195
a0081c0194
a0103c0170
a0117c0051
a0141c0301
a0145c0309
a0184c0238
a0194c0230
a0198c0248
 17 HG01192.hp1
HG01884.hp1
HG02074.hp2
others(14): Show 
HG01192.hp1
HG01884.hp1
HG02074.hp2
HG02257.hp2
HG02258.hp1
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03486.hp1
HG03579.hp1
HG03654.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.11298G>C
c.11298G>C
 p.Thr3766Thr
p.Thr3766Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11373/16005 11298/15267 3766/5088 chr8 143861956
chr8:143862013 G
G
 A
A
 1 a0010c0050
a0010c0050
 1 HG02886.hp2
HG02886.hp2
 synonymous_variant LOW c.11241C>T
c.11241C>T
 p.Ala3747Ala
p.Ala3747Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11316/16005 11241/15267 3747/5088 chr8 143862013
chr8:143862019 G
G
 A
A
 10 a0001c0236
a0005c0004
a0088c0179
others(7): Show 
a0001c0236
a0005c0004
a0088c0179
a0167c0215
a0169c0217
a0191c0237
a0199c0252
a0200c0250
a0226c0326
a0252c0107
 13 HG00544.hp2
HG01358.hp2
HG01361.hp1
others(10): Show 
HG00544.hp2
HG01358.hp2
HG01361.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02080.hp1
HG02300.hp2
NA18944.hp2
NA19009.hp2
NA19010.hp1
NA19076.hp1
NA20300.hp1
 synonymous_variant LOW c.11235C>T
c.11235C>T
 p.His3745His
p.His3745His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11310/16005 11235/15267 3745/5088 chr8 143862019
chr8:143862052 G
G
 A
A
 3 a0042c0092
a0198c0248
a0241c0079
a0042c0092
a0198c0248
a0241c0079
 3 HG00099.hp1
HG03490.hp1
HG03654.hp2
HG00099.hp1
HG03490.hp1
HG03654.hp2
 synonymous_variant LOW c.11202C>T
c.11202C>T
 p.Ser3734Ser
p.Ser3734Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11277/16005 11202/15267 3734/5088 chr8 143862052
chr8:143862148 C
C
 T
T
 1 a0054c0340
a0054c0340
 1 HG01884.hp1
HG01884.hp1
 synonymous_variant LOW c.11106G>A
c.11106G>A
 p.Glu3702Glu
p.Glu3702Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11181/16005 11106/15267 3702/5088 chr8 143862148
chr8:143862178 G
G
 A
A
 1 a0129c0311
a0129c0311
 1 HG01106.hp2
HG01106.hp2
 synonymous_variant LOW c.11076C>T
c.11076C>T
 p.Ala3692Ala
p.Ala3692Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11151/16005 11076/15267 3692/5088 chr8 143862178
chr8:143862181 G
G
 A
A
 1 a0128c0277
a0128c0277
 1 HG02896.hp1
HG02896.hp1
 synonymous_variant LOW c.11073C>T
c.11073C>T
 p.Ala3691Ala
p.Ala3691Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11148/16005 11073/15267 3691/5088 chr8 143862181
chr8:143862280 G
G
 A
A
 1 a0128c0277
a0128c0277
 1 HG02896.hp1
HG02896.hp1
 synonymous_variant LOW c.10974C>T
c.10974C>T
 p.Ala3658Ala
p.Ala3658Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11049/16005 10974/15267 3658/5088 chr8 143862280
chr8:143862283 G
G
 A
A
 1 a0025c0162
a0025c0162
 1 NA19043.hp2
NA19043.hp2
 synonymous_variant LOW c.10971C>T
c.10971C>T
 p.Asp3657Asp
p.Asp3657Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 11046/16005 10971/15267 3657/5088 chr8 143862283
chr8:143862409 G
G
 A
A
 2 a0147c0304
a0224c0204
a0147c0304
a0224c0204
 2 HG02280.hp1
HG02300.hp1
HG02280.hp1
HG02300.hp1
 synonymous_variant LOW c.10845C>T
c.10845C>T
 p.Ala3615Ala
p.Ala3615Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10920/16005 10845/15267 3615/5088 chr8 143862409
chr8:143862412 C
C
 T
T
 3 a0075c0199
a0078c0177
a0079c0342
a0075c0199
a0078c0177
a0079c0342
 3 NA18972.hp1
NA18974.hp1
NA19084.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 synonymous_variant LOW c.10842G>A
c.10842G>A
 p.Arg3614Arg
p.Arg3614Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10917/16005 10842/15267 3614/5088 chr8 143862412
chr8:143862493 G
G
 A
A
 12 a0003c0008
a0003c0030
a0003c0031
others(9): Show 
a0003c0008
a0003c0030
a0003c0031
a0076c0198
a0082c0193
a0092c0182
a0129c0311
a0166c0212
a0228c0328
a0242c0116
a0243c0115
a0267c0137
 16 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(13): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 synonymous_variant LOW c.10761C>T
c.10761C>T
 p.Ala3587Ala
p.Ala3587Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10836/16005 10761/15267 3587/5088 chr8 143862493
chr8:143862604 C
C
 T
T
 4 a0119c0053
a0143c0308
a0144c0307
others(1): Show 
a0119c0053
a0143c0308
a0144c0307
a0161c0306
 4 HG02622.hp2
HG02922.hp1
HG03209.hp1
others(1): Show 
HG02622.hp2
HG02922.hp1
HG03209.hp1
NA19240.hp2
 synonymous_variant LOW c.10650G>A
c.10650G>A
 p.Glu3550Glu
p.Glu3550Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10725/16005 10650/15267 3550/5088 chr8 143862604
chr8:143862670 G
G
 A
A
 1 a0115c0172
a0115c0172
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.10584C>T
c.10584C>T
 p.Arg3528Arg
p.Arg3528Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10659/16005 10584/15267 3528/5088 chr8 143862670
chr8:143862700 G
G
 A
A
 8 a0072c0160
a0073c0339
a0098c0055
others(5): Show 
a0072c0160
a0073c0339
a0098c0055
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0116c0171
 8 HG01109.hp2
HG01175.hp2
HG02109.hp1
others(5): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp1
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
 synonymous_variant LOW c.10554C>T
c.10554C>T
 p.Ser3518Ser
p.Ser3518Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10629/16005 10554/15267 3518/5088 chr8 143862700
chr8:143862745 G
G
 A
A
 1 a0236c0067
a0236c0067
 1 HG01981.hp1
HG01981.hp1
 synonymous_variant LOW c.10509C>T
c.10509C>T
 p.Arg3503Arg
p.Arg3503Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10584/16005 10509/15267 3503/5088 chr8 143862745
chr8:143862898 G
G
 A
A
 88 a0007c0013
a0007c0273
a0008c0017
others(85): Show 
a0007c0013
a0007c0273
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0021c0006
a0023c0095
a0023c0096
a0023c0102
a0026c0185
a0026c0186
a0030c0258
a0033c0213
a0033c0268
a0034c0260
a0034c0261
a0037c0075
a0037c0143
a0038c0019
a0040c0018
a0041c0022
a0043c0085
a0043c0089
a0045c0027
a0049c0028
a0053c0144
a0090c0184
a0091c0180
a0095c0196
a0096c0197
a0105c0338
a0130c0283
a0153c0279
a0154c0291
a0155c0292
a0156c0290
a0158c0289
a0159c0288
a0162c0284
a0163c0313
a0164c0276
a0165c0207
a0202c0218
a0207c0219
a0217c0267
a0218c0266
a0219c0265
a0222c0205
a0230c0337
a0232c0057
a0233c0142
a0235c0068
a0236c0067
a0238c0077
a0244c0111
a0254c0081
a0255c0141
a0257c0083
a0258c0106
a0261c0105
a0262c0104
a0265c0101
a0266c0098
a0269c0123
a0272c0091
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0282c0140
a0283c0130
a0284c0131
a0286c0061
a0287c0129
a0288c0086
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 99 HG00408.hp2
HG00597.hp1
HG00621.hp2
others(96): Show 
HG00408.hp2
HG00597.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01433.hp2
HG01515.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02129.hp1
HG02129.hp2
HG02165.hp1
HG02165.hp2
HG02523.hp2
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp2
HG04228.hp1
NA18612.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18998.hp2
NA18999.hp1
NA19007.hp2
NA19009.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 synonymous_variant LOW c.10356C>T
c.10356C>T
 p.Gly3452Gly
p.Gly3452Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10431/16005 10356/15267 3452/5088 chr8 143862898
chr8:143862931 A
A
 G
G
 3 a0007c0273
a0054c0340
a0264c0099
a0007c0273
a0054c0340
a0264c0099
 3 HG01884.hp1
NA18945.hp2
NA19002.hp2
HG01884.hp1
NA18945.hp2
NA19002.hp2
 synonymous_variant LOW c.10323T>C
c.10323T>C
 p.Arg3441Arg
p.Arg3441Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10398/16005 10323/15267 3441/5088 chr8 143862931
chr8:143862946 G
G
 A
A
 1 a0203c0224
a0203c0224
 1 HG00609.hp2
HG00609.hp2
 synonymous_variant LOW c.10308C>T
c.10308C>T
 p.Asp3436Asp
p.Asp3436Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10383/16005 10308/15267 3436/5088 chr8 143862946
chr8:143863000 G
G
 A
A
 3 a0303c0062
a0304c0064
a0305c0063
a0303c0062
a0304c0064
a0305c0063
 3 NA18951.hp2
NA18982.hp1
NA19089.hp2
NA18951.hp2
NA18982.hp1
NA19089.hp2
 synonymous_variant LOW c.10254C>T
c.10254C>T
 p.Pro3418Pro
p.Pro3418Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10329/16005 10254/15267 3418/5088 chr8 143863000
chr8:143863258 C
C
 T
T
 1 a0004c0234
a0004c0234
 1 NA18956.hp1
NA18956.hp1
 synonymous_variant LOW c.9996G>A
c.9996G>A
 p.Ala3332Ala
p.Ala3332Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10071/16005 9996/15267 3332/5088 chr8 143863258
chr8:143863285 G
G
 A
A
 2 a0178c0211
a0194c0230
a0178c0211
a0194c0230
 2 HG02257.hp2
HG03704.hp2
HG02257.hp2
HG03704.hp2
 synonymous_variant LOW c.9969C>T
c.9969C>T
 p.Pro3323Pro
p.Pro3323Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 10044/16005 9969/15267 3323/5088 chr8 143863285
chr8:143863369 G
G
 A
A
 1 a0063c0159
a0063c0159
 1 HG02809.hp1
HG02809.hp1
 synonymous_variant LOW c.9885C>T
c.9885C>T
 p.Gly3295Gly
p.Gly3295Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9960/16005 9885/15267 3295/5088 chr8 143863369
chr8:143863489 C
C
 T
T
 1 a0102c0169
a0102c0169
 1 HG01975.hp1
HG01975.hp1
 synonymous_variant LOW c.9765G>A
c.9765G>A
 p.Thr3255Thr
p.Thr3255Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9840/16005 9765/15267 3255/5088 chr8 143863489
chr8:143863558 C
C
 G
G
 33 a0003c0008
a0003c0030
a0003c0031
others(30): Show 
a0003c0008
a0003c0030
a0003c0031
a0025c0162
a0054c0340
a0063c0159
a0069c0151
a0070c0145
a0076c0198
a0082c0193
a0092c0182
a0097c0330
a0100c0049
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0119c0053
a0121c0333
a0123c0331
a0124c0327
a0129c0311
a0141c0301
a0143c0308
a0144c0307
a0161c0306
a0166c0212
a0194c0230
a0209c0214
a0228c0328
a0242c0116
a0243c0115
a0267c0137
 37 HG00323.hp1
HG00408.hp1
HG00423.hp1
others(34): Show 
HG00323.hp1
HG00408.hp1
HG00423.hp1
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01106.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02572.hp1
HG02622.hp2
HG02630.hp1
HG02723.hp2
HG02809.hp1
HG02922.hp1
HG03130.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03471.hp2
HG03516.hp1
HG03540.hp1
HG03942.hp1
HG04184.hp2
NA18906.hp1
NA19043.hp2
NA19240.hp2
NA21309.hp1
 synonymous_variant LOW c.9696G>C
c.9696G>C
 p.Thr3232Thr
p.Thr3232Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9771/16005 9696/15267 3232/5088 chr8 143863558
chr8:143863558 C
C
 T
T
 3 a0001c0033
a0002c0296
a0185c0210
a0001c0033
a0002c0296
a0185c0210
 4 HG01891.hp2
HG03098.hp1
NA18522.hp1
others(1): Show 
HG01891.hp2
HG03098.hp1
NA18522.hp1
NA19090.hp2
 synonymous_variant LOW c.9696G>A
c.9696G>A
 p.Thr3232Thr
p.Thr3232Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9771/16005 9696/15267 3232/5088 chr8 143863558
chr8:143863567 G
G
 A
A
 1 a0135c0300
a0135c0300
 1 HG03704.hp1
HG03704.hp1
 synonymous_variant LOW c.9687C>T
c.9687C>T
 p.Ile3229Ile
p.Ile3229Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9762/16005 9687/15267 3229/5088 chr8 143863567
chr8:143863774 G
G
 A
A
 1 a0124c0327
a0124c0327
 1 HG02572.hp1
HG02572.hp1
 synonymous_variant LOW c.9480C>T
c.9480C>T
 p.Ala3160Ala
p.Ala3160Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9555/16005 9480/15267 3160/5088 chr8 143863774
chr8:143863783 G
G
 C
C
 19 a0001c0005
a0001c0249
a0001c0259
others(16): Show 
a0001c0005
a0001c0249
a0001c0259
a0001c0275
a0032c0037
a0052c0056
a0085c0190
a0168c0216
a0176c0227
a0185c0210
a0187c0240
a0188c0241
a0201c0226
a0205c0256
a0212c0271
a0213c0270
a0214c0272
a0227c0329
a0250c0114
 23 HG00423.hp2
HG00558.hp2
HG00597.hp2
others(20): Show 
HG00423.hp2
HG00558.hp2
HG00597.hp2
HG00673.hp1
HG01433.hp1
HG01934.hp1
HG02040.hp2
HG02056.hp2
HG02132.hp2
HG02135.hp1
HG02523.hp1
HG03927.hp1
NA18945.hp1
NA18954.hp1
NA18960.hp2
NA18970.hp1
NA18977.hp1
NA19002.hp1
NA19004.hp1
NA19066.hp1
NA19080.hp2
NA19082.hp2
NA19090.hp2
 synonymous_variant LOW c.9471C>G
c.9471C>G
 p.Thr3157Thr
p.Thr3157Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9546/16005 9471/15267 3157/5088 chr8 143863783
chr8:143863819 C
C
 T
T
 1 a0100c0049
a0100c0049
 1 NA21309.hp1
NA21309.hp1
 synonymous_variant LOW c.9435G>A
c.9435G>A
 p.Gly3145Gly
p.Gly3145Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9510/16005 9435/15267 3145/5088 chr8 143863819
chr8:143863867 G
G
 A
A
 1 a0091c0180
a0091c0180
 1 HG02735.hp1
HG02735.hp1
 synonymous_variant LOW c.9387C>T
c.9387C>T
 p.Arg3129Arg
p.Arg3129Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9462/16005 9387/15267 3129/5088 chr8 143863867
chr8:143863873 G
G
 A
A
 1 a0001c0242
a0001c0242
 1 HG01346.hp2
HG01346.hp2
 synonymous_variant LOW c.9381C>T
c.9381C>T
 p.Ala3127Ala
p.Ala3127Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9456/16005 9381/15267 3127/5088 chr8 143863873
chr8:143864002 G
G
 A
A
 7 a0072c0160
a0098c0055
a0106c0164
others(4): Show 
a0072c0160
a0098c0055
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0116c0171
 7 HG01109.hp2
HG01175.hp2
HG02559.hp2
others(4): Show 
HG01109.hp2
HG01175.hp2
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
 synonymous_variant LOW c.9252C>T
c.9252C>T
 p.Ala3084Ala
p.Ala3084Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9327/16005 9252/15267 3084/5088 chr8 143864002
chr8:143864005 C
C
 T
T
 2 a0080c0195
a0081c0194
a0080c0195
a0081c0194
 2 NA21309.hp2
homoSapiens_chm13v2.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.9249G>A
c.9249G>A
 p.Arg3083Arg
p.Arg3083Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9324/16005 9249/15267 3083/5088 chr8 143864005
chr8:143864041 G
G
 A
A
 1 a0100c0049
a0100c0049
 1 NA21309.hp1
NA21309.hp1
 synonymous_variant LOW c.9213C>T
c.9213C>T
 p.Pro3071Pro
p.Pro3071Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9288/16005 9213/15267 3071/5088 chr8 143864041
chr8:143864098 G
G
 A
A
 5 a0015c0041
a0015c0316
a0120c0332
others(2): Show 
a0015c0041
a0015c0316
a0120c0332
a0160c0317
a0225c0315
 6 HG02559.hp1
HG02970.hp2
HG03195.hp1
others(3): Show 
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 synonymous_variant LOW c.9156C>T
c.9156C>T
 p.Ala3052Ala
p.Ala3052Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9231/16005 9156/15267 3052/5088 chr8 143864098
chr8:143864113 T
T
 C
C
 1 a0015c0316
a0015c0316
 1 HG02559.hp1
HG02559.hp1
 synonymous_variant LOW c.9141A>G
c.9141A>G
 p.Pro3047Pro
p.Pro3047Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9216/16005 9141/15267 3047/5088 chr8 143864113
chr8:143864188 G
G
 A
A
 3 a0075c0199
a0078c0177
a0079c0342
a0075c0199
a0078c0177
a0079c0342
 3 NA18972.hp1
NA18974.hp1
NA19084.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 synonymous_variant LOW c.9066C>T
c.9066C>T
 p.Gly3022Gly
p.Gly3022Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9141/16005 9066/15267 3022/5088 chr8 143864188
chr8:143864197 T
T
 C
C
 162 a0003c0008
a0003c0030
a0003c0031
others(159): Show 
a0003c0008
a0003c0030
a0003c0031
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0011c0007
a0015c0041
a0015c0316
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0025c0161
a0025c0162
a0026c0185
a0026c0186
a0029c0040
a0030c0257
a0030c0258
a0033c0213
a0033c0268
a0034c0260
a0034c0261
a0037c0075
a0037c0143
a0038c0019
a0040c0018
a0041c0022
a0043c0085
a0043c0089
a0049c0028
a0053c0144
a0054c0340
a0061c0157
a0062c0156
a0063c0159
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0069c0151
a0070c0145
a0072c0160
a0073c0339
a0075c0199
a0076c0198
a0078c0177
a0079c0342
a0080c0195
a0081c0194
a0082c0193
a0090c0184
a0091c0180
a0092c0182
a0095c0196
a0096c0197
a0097c0330
a0098c0055
a0100c0049
a0104c0167
a0105c0338
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0114c0173
a0115c0172
a0116c0171
a0119c0053
a0120c0332
a0121c0333
a0122c0334
a0123c0331
a0124c0327
a0128c0277
a0129c0311
a0130c0283
a0132c0286
a0133c0310
a0141c0301
a0143c0308
a0144c0307
a0147c0304
a0153c0279
a0154c0291
a0155c0292
a0156c0290
a0158c0289
a0159c0288
a0160c0317
a0161c0306
a0162c0284
a0163c0313
a0164c0276
a0165c0207
a0166c0212
a0198c0248
a0202c0218
a0206c0221
a0207c0219
a0208c0220
a0209c0214
a0217c0267
a0218c0266
a0219c0265
a0222c0205
a0224c0204
a0225c0315
a0228c0328
a0230c0337
a0232c0057
a0233c0142
a0235c0068
a0236c0067
a0238c0077
a0239c0076
a0242c0116
a0243c0115
a0244c0111
a0251c0084
a0253c0080
a0254c0081
a0255c0141
a0257c0083
a0258c0106
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0269c0123
a0272c0091
a0273c0090
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0282c0140
a0283c0130
a0284c0131
a0286c0061
a0287c0129
a0288c0086
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 179 HG00323.hp1
HG00323.hp2
HG00408.hp1
others(176): Show 
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18978.hp1
NA18982.hp1
NA18986.hp1
NA18990.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.9057A>G
c.9057A>G
 p.Glu3019Glu
p.Glu3019Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9132/16005 9057/15267 3019/5088 chr8 143864197
chr8:143864263 G
G
 A
A
 1 a0113c0048
a0113c0048
 1 HG03130.hp2
HG03130.hp2
 synonymous_variant LOW c.8991C>T
c.8991C>T
 p.Arg2997Arg
p.Arg2997Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9066/16005 8991/15267 2997/5088 chr8 143864263
chr8:143864293 G
G
 A
A
 7 a0072c0160
a0098c0055
a0106c0164
others(4): Show 
a0072c0160
a0098c0055
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0116c0171
 7 HG01109.hp2
HG01175.hp2
HG02559.hp2
others(4): Show 
HG01109.hp2
HG01175.hp2
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
 synonymous_variant LOW c.8961C>T
c.8961C>T
 p.Ser2987Ser
p.Ser2987Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 9036/16005 8961/15267 2987/5088 chr8 143864293
chr8:143864338 G
G
 A
A
 9 a0015c0041
a0015c0316
a0075c0199
others(6): Show 
a0015c0041
a0015c0316
a0075c0199
a0078c0177
a0079c0342
a0120c0332
a0160c0317
a0225c0315
a0242c0116
 10 HG00673.hp2
HG02559.hp1
HG02970.hp2
others(7): Show 
HG00673.hp2
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 synonymous_variant LOW c.8916C>T
c.8916C>T
 p.Arg2972Arg
p.Arg2972Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8991/16005 8916/15267 2972/5088 chr8 143864338
chr8:143864377 G
G
 A
A
 3 a0036c0016
a0050c0346
a0234c0065
a0036c0016
a0050c0346
a0234c0065
 4 NA18950.hp2
NA18986.hp2
NA18997.hp2
others(1): Show 
NA18950.hp2
NA18986.hp2
NA18997.hp2
NA19082.hp1
 synonymous_variant LOW c.8877C>T
c.8877C>T
 p.Ala2959Ala
p.Ala2959Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8952/16005 8877/15267 2959/5088 chr8 143864377
chr8:143864491 G
G
 A
A
 8 a0073c0339
a0158c0289
a0239c0076
others(5): Show 
a0073c0339
a0158c0289
a0239c0076
a0253c0080
a0269c0123
a0273c0090
a0278c0074
a0306c0058
 8 HG01106.hp1
HG01361.hp2
HG02055.hp1
others(5): Show 
HG01106.hp1
HG01361.hp2
HG02055.hp1
HG02109.hp1
HG03491.hp2
NA18952.hp2
NA18957.hp1
NA19085.hp2
 synonymous_variant LOW c.8763C>T
c.8763C>T
 p.Gly2921Gly
p.Gly2921Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8838/16005 8763/15267 2921/5088 chr8 143864491
chr8:143864503 G
G
 A
A
 1 a0070c0145
a0070c0145
 1 HG03471.hp2
HG03471.hp2
 synonymous_variant LOW c.8751C>T
c.8751C>T
 p.Asp2917Asp
p.Asp2917Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8826/16005 8751/15267 2917/5088 chr8 143864503
chr8:143864524 A
A
 G
G
 10 a0023c0096
a0023c0102
a0054c0340
others(7): Show 
a0023c0096
a0023c0102
a0054c0340
a0129c0311
a0130c0283
a0153c0279
a0223c0325
a0246c0113
a0257c0083
a0305c0063
 10 HG01099.hp2
HG01106.hp2
HG01243.hp2
others(7): Show 
HG01099.hp2
HG01106.hp2
HG01243.hp2
HG01884.hp1
HG03688.hp1
HG03688.hp2
HG04228.hp1
NA18982.hp1
NA19030.hp1
NA19064.hp1
 synonymous_variant LOW c.8730T>C
c.8730T>C
 p.Arg2910Arg
p.Arg2910Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8805/16005 8730/15267 2910/5088 chr8 143864524
chr8:143864557 G
G
 A
A
 1 a0063c0159
a0063c0159
 1 HG02809.hp1
HG02809.hp1
 synonymous_variant LOW c.8697C>T
c.8697C>T
 p.Tyr2899Tyr
p.Tyr2899Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8772/16005 8697/15267 2899/5088 chr8 143864557
chr8:143864617 G
G
 A
A
 3 a0033c0213
a0033c0268
a0284c0131
a0033c0213
a0033c0268
a0284c0131
 3 NA18612.hp2
NA18960.hp1
NA19055.hp1
NA18612.hp2
NA18960.hp1
NA19055.hp1
 synonymous_variant LOW c.8637C>T
c.8637C>T
 p.Ile2879Ile
p.Ile2879Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8712/16005 8637/15267 2879/5088 chr8 143864617
chr8:143864644 G
G
 A
A
 1 a0189c0208
a0189c0208
 1 NA18982.hp2
NA18982.hp2
 synonymous_variant LOW c.8610C>T
c.8610C>T
 p.His2870His
p.His2870His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8685/16005 8610/15267 2870/5088 chr8 143864644
chr8:143864731 G
G
 A
A
 4 a0110c0046
a0111c0047
a0112c0045
others(1): Show 
a0110c0046
a0111c0047
a0112c0045
a0113c0048
 4 HG02723.hp2
HG03130.hp2
HG03516.hp1
others(1): Show 
HG02723.hp2
HG03130.hp2
HG03516.hp1
HG03540.hp1
 synonymous_variant LOW c.8523C>T
c.8523C>T
 p.Arg2841Arg
p.Arg2841Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8598/16005 8523/15267 2841/5088 chr8 143864731
chr8:143864776 G
G
 A
A
 1 a0124c0327
a0124c0327
 1 HG02572.hp1
HG02572.hp1
 synonymous_variant LOW c.8478C>T
c.8478C>T
 p.Gly2826Gly
p.Gly2826Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8553/16005 8478/15267 2826/5088 chr8 143864776
chr8:143864782 G
G
 A
A
 5 a0015c0041
a0015c0316
a0120c0332
others(2): Show 
a0015c0041
a0015c0316
a0120c0332
a0160c0317
a0225c0315
 6 HG02559.hp1
HG02970.hp2
HG03195.hp1
others(3): Show 
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 synonymous_variant LOW c.8472C>T
c.8472C>T
 p.Ala2824Ala
p.Ala2824Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8547/16005 8472/15267 2824/5088 chr8 143864782
chr8:143864824 G
G
 A
A
 1 a0001c0249
a0001c0249
 1 NA19066.hp1
NA19066.hp1
 synonymous_variant LOW c.8430C>T
c.8430C>T
 p.Asp2810Asp
p.Asp2810Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8505/16005 8430/15267 2810/5088 chr8 143864824
chr8:143865121 G
G
 A
A
 1 a0055c0341
a0055c0341
 1 NA19030.hp2
NA19030.hp2
 synonymous_variant LOW c.8133C>T
c.8133C>T
 p.Arg2711Arg
p.Arg2711Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8208/16005 8133/15267 2711/5088 chr8 143865121
chr8:143865151 G
G
 A
A
 1 a0121c0333
a0121c0333
 1 HG02630.hp1
HG02630.hp1
 synonymous_variant LOW c.8103C>T
c.8103C>T
 p.Thr2701Thr
p.Thr2701Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8178/16005 8103/15267 2701/5088 chr8 143865151
chr8:143865151 G
G
 C
C
 167 a0003c0008
a0003c0030
a0003c0031
others(164): Show 
a0003c0008
a0003c0030
a0003c0031
a0007c0013
a0007c0273
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0010c0015
a0010c0050
a0011c0007
a0014c0044
a0014c0280
a0015c0041
a0015c0316
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0026c0185
a0026c0186
a0030c0257
a0030c0258
a0033c0213
a0033c0268
a0034c0260
a0034c0261
a0037c0075
a0037c0143
a0038c0019
a0040c0018
a0041c0022
a0043c0085
a0043c0089
a0044c0020
a0045c0027
a0049c0028
a0053c0144
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0072c0160
a0073c0339
a0074c0335
a0075c0199
a0076c0198
a0078c0177
a0079c0342
a0080c0195
a0081c0194
a0082c0193
a0084c0191
a0087c0192
a0089c0183
a0090c0184
a0091c0180
a0092c0182
a0094c0181
a0095c0196
a0096c0197
a0098c0055
a0104c0167
a0105c0338
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0116c0171
a0119c0053
a0120c0332
a0122c0334
a0124c0327
a0129c0311
a0130c0283
a0131c0285
a0133c0310
a0138c0282
a0143c0308
a0144c0307
a0145c0309
a0153c0279
a0154c0291
a0155c0292
a0156c0290
a0157c0278
a0158c0289
a0159c0288
a0160c0317
a0161c0306
a0162c0284
a0163c0313
a0164c0276
a0165c0207
a0166c0212
a0167c0215
a0190c0251
a0199c0252
a0200c0250
a0202c0218
a0206c0221
a0207c0219
a0208c0220
a0210c0263
a0215c0269
a0217c0267
a0218c0266
a0219c0265
a0222c0205
a0225c0315
a0228c0328
a0230c0337
a0232c0057
a0233c0142
a0235c0068
a0236c0067
a0238c0077
a0239c0076
a0242c0116
a0243c0115
a0244c0111
a0246c0113
a0251c0084
a0253c0080
a0254c0081
a0255c0141
a0256c0082
a0257c0083
a0258c0106
a0260c0103
a0261c0105
a0262c0104
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0269c0123
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0282c0140
a0283c0130
a0284c0131
a0286c0061
a0287c0129
a0288c0086
a0290c0128
a0291c0127
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 189 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(186): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02622.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18978.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19012.hp1
NA19043.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19076.hp2
NA19080.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA19240.hp2
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.8103C>G
c.8103C>G
 p.Thr2701Thr
p.Thr2701Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8178/16005 8103/15267 2701/5088 chr8 143865151
chr8:143865208 G
G
 A
A
 1 a0003c0031
a0003c0031
 2 HG01515.hp2
HG01517.hp2
HG01515.hp2
HG01517.hp2
 synonymous_variant LOW c.8046C>T
c.8046C>T
 p.Ala2682Ala
p.Ala2682Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8121/16005 8046/15267 2682/5088 chr8 143865208
chr8:143865211 C
C
 T
T
 1 a0079c0342
a0079c0342
 1 NA18974.hp1
NA18974.hp1
 synonymous_variant LOW c.8043G>A
c.8043G>A
 p.Ala2681Ala
p.Ala2681Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8118/16005 8043/15267 2681/5088 chr8 143865211
chr8:143865247 G
G
 A
A
 3 a0094c0181
a0274c0135
a0280c0134
a0094c0181
a0274c0135
a0280c0134
 3 HG00741.hp1
HG01175.hp1
HG01515.hp1
HG00741.hp1
HG01175.hp1
HG01515.hp1
 synonymous_variant LOW c.8007C>T
c.8007C>T
 p.Ser2669Ser
p.Ser2669Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8082/16005 8007/15267 2669/5088 chr8 143865247
chr8:143865256 C
C
 T
T
 1 a0124c0327
a0124c0327
 1 HG02572.hp1
HG02572.hp1
 synonymous_variant LOW c.7998G>A
c.7998G>A
 p.Ser2666Ser
p.Ser2666Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 8073/16005 7998/15267 2666/5088 chr8 143865256
chr8:143865367 G
G
 A
A
 1 a0127c0203
a0127c0203
 1 HG00642.hp1
HG00642.hp1
 synonymous_variant LOW c.7887C>T
c.7887C>T
 p.Ala2629Ala
p.Ala2629Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7962/16005 7887/15267 2629/5088 chr8 143865367
chr8:143865373 G
G
 A
A
 1 a0034c0261
a0034c0261
 1 HG01074.hp2
HG01074.hp2
 synonymous_variant LOW c.7881C>T
c.7881C>T
 p.Ala2627Ala
p.Ala2627Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7956/16005 7881/15267 2627/5088 chr8 143865373
chr8:143865376 G
G
 A
A
 12 a0015c0041
a0015c0316
a0075c0199
others(9): Show 
a0015c0041
a0015c0316
a0075c0199
a0078c0177
a0079c0342
a0092c0182
a0120c0332
a0129c0311
a0160c0317
a0225c0315
a0228c0328
a0242c0116
 13 HG00408.hp1
HG00423.hp1
HG00673.hp2
others(10): Show 
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG01106.hp2
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 synonymous_variant LOW c.7878C>T
c.7878C>T
 p.Ala2626Ala
p.Ala2626Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7953/16005 7878/15267 2626/5088 chr8 143865376
chr8:143865382 G
G
 A
A
 1 a0128c0277
a0128c0277
 1 HG02896.hp1
HG02896.hp1
 synonymous_variant LOW c.7872C>T
c.7872C>T
 p.Ala2624Ala
p.Ala2624Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7947/16005 7872/15267 2624/5088 chr8 143865382
chr8:143865424 G
G
 A
A
 1 a0223c0325
a0223c0325
 1 NA19030.hp1
NA19030.hp1
 synonymous_variant LOW c.7830C>T
c.7830C>T
 p.Arg2610Arg
p.Arg2610Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7905/16005 7830/15267 2610/5088 chr8 143865424
chr8:143865460 T
T
 G
G
 12 a0015c0041
a0015c0316
a0075c0199
others(9): Show 
a0015c0041
a0015c0316
a0075c0199
a0078c0177
a0079c0342
a0092c0182
a0120c0332
a0129c0311
a0160c0317
a0225c0315
a0228c0328
a0242c0116
 13 HG00408.hp1
HG00423.hp1
HG00673.hp2
others(10): Show 
HG00408.hp1
HG00423.hp1
HG00673.hp2
HG01106.hp2
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19084.hp2
 synonymous_variant LOW c.7794A>C
c.7794A>C
 p.Pro2598Pro
p.Pro2598Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7869/16005 7794/15267 2598/5088 chr8 143865460
chr8:143865469 C
C
 T
T
 1 a0223c0325
a0223c0325
 1 NA19030.hp1
NA19030.hp1
 synonymous_variant LOW c.7785G>A
c.7785G>A
 p.Pro2595Pro
p.Pro2595Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7860/16005 7785/15267 2595/5088 chr8 143865469
chr8:143865565 G
G
 A
A
 6 a0034c0260
a0034c0261
a0095c0196
others(3): Show 
a0034c0260
a0034c0261
a0095c0196
a0294c0119
a0295c0117
a0296c0118
 6 HG01074.hp2
HG01261.hp2
HG01346.hp1
others(3): Show 
HG01074.hp2
HG01261.hp2
HG01346.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
 synonymous_variant LOW c.7689C>T
c.7689C>T
 p.Asp2563Asp
p.Asp2563Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7764/16005 7689/15267 2563/5088 chr8 143865565
chr8:143865613 C
C
 T
T
 7 a0003c0008
a0003c0030
a0003c0031
others(4): Show 
a0003c0008
a0003c0030
a0003c0031
a0076c0198
a0082c0193
a0166c0212
a0267c0137
 11 HG00323.hp1
HG00733.hp1
HG00738.hp2
others(8): Show 
HG00323.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01496.hp1
HG01515.hp2
HG01517.hp2
HG03942.hp1
HG04184.hp2
 synonymous_variant LOW c.7641G>A
c.7641G>A
 p.Arg2547Arg
p.Arg2547Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7716/16005 7641/15267 2547/5088 chr8 143865613
chr8:143865724 G
G
 T
T
 1 a0112c0045
a0112c0045
 1 HG03516.hp1
HG03516.hp1
 synonymous_variant LOW c.7530C>A
c.7530C>A
 p.Arg2510Arg
p.Arg2510Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7605/16005 7530/15267 2510/5088 chr8 143865724
chr8:143865805 C
C
 T
T
 1 a0202c0218
a0202c0218
 1 NA18986.hp1
NA18986.hp1
 synonymous_variant LOW c.7449G>A
c.7449G>A
 p.Glu2483Glu
p.Glu2483Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7524/16005 7449/15267 2483/5088 chr8 143865805
chr8:143865943 G
G
 A
A
 1 a0102c0169
a0102c0169
 1 HG01975.hp1
HG01975.hp1
 synonymous_variant LOW c.7311C>T
c.7311C>T
 p.Asp2437Asp
p.Asp2437Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7386/16005 7311/15267 2437/5088 chr8 143865943
chr8:143865946 G
G
 A
A
 13 a0016c0319
a0056c0158
a0057c0153
others(10): Show 
a0016c0319
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0080c0195
a0081c0194
a0117c0051
a0119c0053
a0143c0308
a0144c0307
a0145c0309
a0161c0306
 13 HG02622.hp2
HG02818.hp2
HG02922.hp1
others(10): Show 
HG02622.hp2
HG02818.hp2
HG02922.hp1
HG03139.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03486.hp1
NA18993.hp1
NA19240.hp2
NA20300.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.7308C>T
c.7308C>T
 p.Arg2436Arg
p.Arg2436Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7383/16005 7308/15267 2436/5088 chr8 143865946
chr8:143865979 G
G
 A
A
 1 a0234c0065
a0234c0065
 1 NA18997.hp2
NA18997.hp2
 synonymous_variant LOW c.7275C>T
c.7275C>T
 p.His2425His
p.His2425His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7350/16005 7275/15267 2425/5088 chr8 143865979
chr8:143865985 G
G
 A
A
 2 a0017c0012
a0247c0112
a0017c0012
a0247c0112
 4 NA18942.hp1
NA18951.hp1
NA19057.hp1
others(1): Show 
NA18942.hp1
NA18951.hp1
NA19057.hp1
NA19088.hp2
 synonymous_variant LOW c.7269C>T
c.7269C>T
 p.Ala2423Ala
p.Ala2423Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7344/16005 7269/15267 2423/5088 chr8 143865985
chr8:143866036 G
G
 A
A
 1 a0227c0329
a0227c0329
 1 HG00673.hp1
HG00673.hp1
 synonymous_variant LOW c.7218C>T
c.7218C>T
 p.Pro2406Pro
p.Pro2406Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7293/16005 7218/15267 2406/5088 chr8 143866036
chr8:143866099 G
G
 A
A
 8 a0072c0160
a0098c0055
a0106c0164
others(5): Show 
a0072c0160
a0098c0055
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0116c0171
a0246c0113
 8 HG01109.hp2
HG01175.hp2
HG02559.hp2
others(5): Show 
HG01109.hp2
HG01175.hp2
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
NA19064.hp1
 synonymous_variant LOW c.7155C>T
c.7155C>T
 p.Gly2385Gly
p.Gly2385Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7230/16005 7155/15267 2385/5088 chr8 143866099
chr8:143866123 G
G
 A
A
 2 a0025c0161
a0025c0162
a0025c0161
a0025c0162
 2 HG03041.hp2
NA19043.hp2
HG03041.hp2
NA19043.hp2
 synonymous_variant LOW c.7131C>T
c.7131C>T
 p.Ala2377Ala
p.Ala2377Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7206/16005 7131/15267 2377/5088 chr8 143866123
chr8:143866132 A
A
 G
G
 23 a0014c0044
a0015c0041
a0015c0316
others(20): Show 
a0014c0044
a0015c0041
a0015c0316
a0023c0096
a0054c0340
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0073c0339
a0075c0199
a0078c0177
a0079c0342
a0092c0182
a0120c0332
a0129c0311
a0160c0317
a0223c0325
a0225c0315
a0228c0328
a0259c0097
a0268c0122
a0269c0123
 25 HG00408.hp1
HG00423.hp1
HG01070.hp1
others(22): Show 
HG00408.hp1
HG00423.hp1
HG01070.hp1
HG01071.hp2
HG01106.hp2
HG01884.hp1
HG02071.hp1
HG02109.hp1
HG02145.hp2
HG02559.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03239.hp2
HG03471.hp1
HG03491.hp2
HG03516.hp2
HG03540.hp2
HG03688.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19030.hp1
NA19084.hp2
NA19240.hp1
 synonymous_variant LOW c.7122T>C
c.7122T>C
 p.Arg2374Arg
p.Arg2374Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7197/16005 7122/15267 2374/5088 chr8 143866132
chr8:143866159 G
G
 A
A
 1 a0124c0327
a0124c0327
 1 HG02572.hp1
HG02572.hp1
 synonymous_variant LOW c.7095C>T
c.7095C>T
 p.Arg2365Arg
p.Arg2365Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7170/16005 7095/15267 2365/5088 chr8 143866159
chr8:143866207 G
G
 A
A
 2 a0001c0259
a0001c0275
a0001c0259
a0001c0275
 2 HG02132.hp2
NA18954.hp1
HG02132.hp2
NA18954.hp1
 synonymous_variant LOW c.7047C>T
c.7047C>T
 p.Ile2349Ile
p.Ile2349Ile
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7122/16005 7047/15267 2349/5088 chr8 143866207
chr8:143866252 G
G
 A
A
 1 a0001c0010
a0001c0010
 3 NA18978.hp2
NA19005.hp2
NA19065.hp2
NA18978.hp2
NA19005.hp2
NA19065.hp2
 synonymous_variant LOW c.7002C>T
c.7002C>T
 p.His2334His
p.His2334His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7077/16005 7002/15267 2334/5088 chr8 143866252
chr8:143866294 G
G
 A
A
 17 a0015c0041
a0015c0316
a0065c0149
others(14): Show 
a0015c0041
a0015c0316
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0073c0339
a0075c0199
a0078c0177
a0079c0342
a0092c0182
a0120c0332
a0129c0311
a0160c0317
a0223c0325
a0225c0315
a0228c0328
 18 HG00408.hp1
HG00423.hp1
HG01106.hp2
others(15): Show 
HG00408.hp1
HG00423.hp1
HG01106.hp2
HG02109.hp1
HG02145.hp2
HG02559.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19030.hp1
NA19084.hp2
NA19240.hp1
 synonymous_variant LOW c.6960C>T
c.6960C>T
 p.Ser2320Ser
p.Ser2320Ser
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7035/16005 6960/15267 2320/5088 chr8 143866294
chr8:143866306 C
C
 T
T
 17 a0015c0041
a0015c0316
a0065c0149
others(14): Show 
a0015c0041
a0015c0316
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0073c0339
a0075c0199
a0078c0177
a0079c0342
a0092c0182
a0120c0332
a0129c0311
a0160c0317
a0223c0325
a0225c0315
a0228c0328
 18 HG00408.hp1
HG00423.hp1
HG01106.hp2
others(15): Show 
HG00408.hp1
HG00423.hp1
HG01106.hp2
HG02109.hp1
HG02145.hp2
HG02559.hp1
HG02717.hp1
HG02970.hp2
HG03195.hp1
HG03471.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
NA18972.hp1
NA18974.hp1
NA19030.hp1
NA19084.hp2
NA19240.hp1
 synonymous_variant LOW c.6948G>A
c.6948G>A
 p.Gly2316Gly
p.Gly2316Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 7023/16005 6948/15267 2316/5088 chr8 143866306
chr8:143866339 G
G
 A
A
 1 a0250c0114
a0250c0114
 1 HG01433.hp1
HG01433.hp1
 synonymous_variant LOW c.6915C>T
c.6915C>T
 p.Arg2305Arg
p.Arg2305Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6990/16005 6915/15267 2305/5088 chr8 143866339
chr8:143866372 G
G
 A
A
 7 a0065c0149
a0066c0148
a0067c0147
others(4): Show 
a0065c0149
a0066c0148
a0067c0147
a0075c0199
a0078c0177
a0079c0342
a0129c0311
 7 HG01106.hp2
HG02145.hp2
HG03471.hp1
others(4): Show 
HG01106.hp2
HG02145.hp2
HG03471.hp1
NA18972.hp1
NA18974.hp1
NA19084.hp2
NA19240.hp1
 synonymous_variant LOW c.6882C>T
c.6882C>T
 p.Gly2294Gly
p.Gly2294Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6957/16005 6882/15267 2294/5088 chr8 143866372
chr8:143866453 C
C
 T
T
 3 a0043c0085
a0275c0120
a0277c0121
a0043c0085
a0275c0120
a0277c0121
 3 HG01074.hp1
HG01255.hp1
HG01261.hp1
HG01074.hp1
HG01255.hp1
HG01261.hp1
 synonymous_variant LOW c.6801G>A
c.6801G>A
 p.Ala2267Ala
p.Ala2267Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6876/16005 6801/15267 2267/5088 chr8 143866453
chr8:143866543 G
G
 A
A
 1 a0011c0007
a0011c0007
 3 HG02886.hp1
HG02965.hp1
HG02970.hp1
HG02886.hp1
HG02965.hp1
HG02970.hp1
 synonymous_variant LOW c.6711C>T
c.6711C>T
 p.Pro2237Pro
p.Pro2237Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6786/16005 6711/15267 2237/5088 chr8 143866543
chr8:143866636 C
C
 T
T
 1 a0023c0095
a0023c0095
 1 HG03834.hp2
HG03834.hp2
 synonymous_variant LOW c.6618G>A
c.6618G>A
 p.Thr2206Thr
p.Thr2206Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6693/16005 6618/15267 2206/5088 chr8 143866636
chr8:143866773 A
A
 G
G
 1 a0054c0340
a0054c0340
 1 HG01884.hp1
HG01884.hp1
 synonymous_variant LOW c.6481T>C
c.6481T>C
 p.Leu2161Leu
p.Leu2161Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6556/16005 6481/15267 2161/5088 chr8 143866773
chr8:143866789 C
C
 T
T
 1 a0211c0262
a0211c0262
 1 HG02155.hp1
HG02155.hp1
 synonymous_variant LOW c.6465G>A
c.6465G>A
 p.Ala2155Ala
p.Ala2155Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6540/16005 6465/15267 2155/5088 chr8 143866789
chr8:143867101 C
C
 T
T
 1 a0022c0094
a0022c0094
 1 HG01069.hp1
HG01069.hp1
 synonymous_variant LOW c.6153G>A
c.6153G>A
 p.Arg2051Arg
p.Arg2051Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6228/16005 6153/15267 2051/5088 chr8 143867101
chr8:143867215 C
C
 T
T
 1 a0189c0208
a0189c0208
 1 NA18982.hp2
NA18982.hp2
 synonymous_variant LOW c.6039G>A
c.6039G>A
 p.Thr2013Thr
p.Thr2013Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6114/16005 6039/15267 2013/5088 chr8 143867215
chr8:143867251 C
C
 T
T
 54 a0001c0010
a0001c0209
a0003c0030
others(51): Show 
a0001c0010
a0001c0209
a0003c0030
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0014c0044
a0014c0280
a0016c0319
a0020c0032
a0033c0213
a0038c0019
a0040c0018
a0042c0088
a0042c0092
a0043c0085
a0043c0089
a0044c0020
a0049c0028
a0075c0199
a0077c0175
a0078c0177
a0088c0179
a0091c0180
a0092c0182
a0094c0181
a0130c0283
a0138c0282
a0151c0281
a0153c0279
a0157c0278
a0162c0284
a0166c0212
a0178c0211
a0185c0210
a0189c0208
a0228c0328
a0230c0337
a0235c0068
a0236c0067
a0237c0139
a0251c0084
a0253c0080
a0254c0081
a0256c0082
a0257c0083
a0270c0093
a0272c0091
a0273c0090
a0278c0074
a0279c0087
a0286c0061
a0288c0086
 65 HG00099.hp1
HG00408.hp1
HG00423.hp1
others(62): Show 
HG00099.hp1
HG00408.hp1
HG00423.hp1
HG00544.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp1
HG01168.hp2
HG01169.hp2
HG01243.hp2
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp2
HG01496.hp1
HG01981.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02293.hp1
HG02293.hp2
HG02602.hp2
HG02683.hp1
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG03017.hp2
HG03239.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03704.hp2
HG03710.hp1
HG04228.hp1
HG04228.hp2
NA18612.hp1
NA18612.hp2
NA18956.hp2
NA18971.hp2
NA18972.hp1
NA18978.hp2
NA18982.hp2
NA18993.hp1
NA19005.hp2
NA19009.hp2
NA19065.hp1
NA19065.hp2
NA19079.hp1
NA19084.hp2
NA19090.hp2
NA20805.hp2
NA20905.hp1
 synonymous_variant LOW c.6003G>A
c.6003G>A
 p.Ala2001Ala
p.Ala2001Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 6078/16005 6003/15267 2001/5088 chr8 143867251
chr8:143867491 G
G
 A
A
 1 a0271c0138
a0271c0138
 1 NA20752.hp1
NA20752.hp1
 synonymous_variant LOW c.5763C>T
c.5763C>T
 p.Leu1921Leu
p.Leu1921Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5838/16005 5763/15267 1921/5088 chr8 143867491
chr8:143867772 G
G
 A
A
 23 a0010c0015
a0010c0050
a0056c0158
others(20): Show 
a0010c0015
a0010c0050
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0061c0157
a0062c0156
a0070c0145
a0098c0055
a0099c0054
a0100c0049
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0117c0051
a0118c0052
a0119c0053
a0122c0334
a0123c0331
a0223c0325
 24 HG01109.hp2
HG02145.hp1
HG02280.hp2
others(21): Show 
HG01109.hp2
HG02145.hp1
HG02280.hp2
HG02630.hp2
HG02647.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp2
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03516.hp1
HG03540.hp1
HG06807.hp2
NA18906.hp1
NA19030.hp1
NA20300.hp2
NA21309.hp1
 synonymous_variant LOW c.5482C>T
c.5482C>T
 p.Leu1828Leu
p.Leu1828Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5557/16005 5482/15267 1828/5088 chr8 143867772
chr8:143867824 C
C
 T
T
 1 a0093c0176
a0093c0176
 1 HG03654.hp1
HG03654.hp1
 synonymous_variant LOW c.5430G>A
c.5430G>A
 p.Lys1810Lys
p.Lys1810Lys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5505/16005 5430/15267 1810/5088 chr8 143867824
chr8:143867929 G
G
 A
A
 5 a0055c0341
a0065c0149
a0066c0148
others(2): Show 
a0055c0341
a0065c0149
a0066c0148
a0067c0147
a0068c0146
 5 HG02145.hp2
HG02717.hp1
HG03471.hp1
others(2): Show 
HG02145.hp2
HG02717.hp1
HG03471.hp1
NA19030.hp2
NA19240.hp1
 synonymous_variant LOW c.5325C>T
c.5325C>T
 p.His1775His
p.His1775His
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5400/16005 5325/15267 1775/5088 chr8 143867929
chr8:143867938 G
G
 A
A
 1 a0128c0277
a0128c0277
 1 HG02896.hp1
HG02896.hp1
 synonymous_variant LOW c.5316C>T
c.5316C>T
 p.Ala1772Ala
p.Ala1772Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5391/16005 5316/15267 1772/5088 chr8 143867938
chr8:143868097 C
C
 G
G
 1 a0018c0206
a0018c0206
 1 NA19000.hp2
NA19000.hp2
 synonymous_variant LOW c.5157G>C
c.5157G>C
 p.Ala1719Ala
p.Ala1719Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5232/16005 5157/15267 1719/5088 chr8 143868097
chr8:143868133 G
G
 A
A
 2 a0052c0056
a0163c0313
a0052c0056
a0163c0313
 2 HG01934.hp1
NA19058.hp1
HG01934.hp1
NA19058.hp1
 synonymous_variant LOW c.5121C>T
c.5121C>T
 p.Cys1707Cys
p.Cys1707Cys
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5196/16005 5121/15267 1707/5088 chr8 143868133
chr8:143868160 G
G
 A
A
 3 a0025c0161
a0025c0162
a0071c0347
a0025c0161
a0025c0162
a0071c0347
 3 HG03041.hp2
NA19043.hp2
NA20129.hp1
HG03041.hp2
NA19043.hp2
NA20129.hp1
 synonymous_variant LOW c.5094C>T
c.5094C>T
 p.Arg1698Arg
p.Arg1698Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5169/16005 5094/15267 1698/5088 chr8 143868160
chr8:143868175 G
G
 A
A
 1 a0139c0314
a0139c0314
 1 NA19066.hp2
NA19066.hp2
 synonymous_variant LOW c.5079C>T
c.5079C>T
 p.Pro1693Pro
p.Pro1693Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 5154/16005 5079/15267 1693/5088 chr8 143868175
chr8:143868330 G
G
 A
A
 1 a0282c0140
a0282c0140
 1 HG04115.hp1
HG04115.hp1
 synonymous_variant LOW c.4924C>T
c.4924C>T
 p.Leu1642Leu
p.Leu1642Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4999/16005 4924/15267 1642/5088 chr8 143868330
chr8:143868370 C
C
 T
T
 2 a0008c0017
a0278c0074
a0008c0017
a0278c0074
 3 HG01106.hp1
HG01256.hp1
HG01258.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp2
 synonymous_variant LOW c.4884G>A
c.4884G>A
 p.Ala1628Ala
p.Ala1628Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4959/16005 4884/15267 1628/5088 chr8 143868370
chr8:143868619 G
G
 A
A
 1 a0001c0275
a0001c0275
 1 HG02132.hp2
HG02132.hp2
 synonymous_variant LOW c.4635C>T
c.4635C>T
 p.Asp1545Asp
p.Asp1545Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4710/16005 4635/15267 1545/5088 chr8 143868619
chr8:143868631 C
C
 T
T
 5 a0015c0041
a0015c0316
a0120c0332
others(2): Show 
a0015c0041
a0015c0316
a0120c0332
a0160c0317
a0225c0315
 6 HG02559.hp1
HG02970.hp2
HG03195.hp1
others(3): Show 
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
NA18906.hp2
 synonymous_variant LOW c.4623G>A
c.4623G>A
 p.Arg1541Arg
p.Arg1541Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4698/16005 4623/15267 1541/5088 chr8 143868631
chr8:143868736 G
G
 A
A
 1 a0024c0029
a0024c0029
 2 HG03453.hp1
HG03579.hp1
HG03453.hp1
HG03579.hp1
 synonymous_variant LOW c.4518C>T
c.4518C>T
 p.Thr1506Thr
p.Thr1506Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4593/16005 4518/15267 1506/5088 chr8 143868736
chr8:143868766 C
C
 T
T
 5 a0055c0341
a0065c0149
a0066c0148
others(2): Show 
a0055c0341
a0065c0149
a0066c0148
a0067c0147
a0068c0146
 5 HG02145.hp2
HG02717.hp1
HG03471.hp1
others(2): Show 
HG02145.hp2
HG02717.hp1
HG03471.hp1
NA19030.hp2
NA19240.hp1
 synonymous_variant LOW c.4488G>A
c.4488G>A
 p.Ala1496Ala
p.Ala1496Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4563/16005 4488/15267 1496/5088 chr8 143868766
chr8:143868840 G
G
 A
A
 1 a0255c0141
a0255c0141
 1 HG04199.hp2
HG04199.hp2
 synonymous_variant LOW c.4414C>T
c.4414C>T
 p.Leu1472Leu
p.Leu1472Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4489/16005 4414/15267 1472/5088 chr8 143868840
chr8:143869216 G
G
 A
A
 9 a0010c0015
a0010c0050
a0098c0055
others(6): Show 
a0010c0015
a0010c0050
a0098c0055
a0099c0054
a0100c0049
a0117c0051
a0118c0052
a0119c0053
a0223c0325
 10 HG01109.hp2
HG02145.hp1
HG02647.hp1
others(7): Show 
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02886.hp2
HG02922.hp1
HG03453.hp2
HG06807.hp2
NA19030.hp1
NA20300.hp2
NA21309.hp1
 synonymous_variant LOW c.4038C>T
c.4038C>T
 p.Leu1346Leu
p.Leu1346Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4113/16005 4038/15267 1346/5088 chr8 143869216
chr8:143869282 C
C
 T
T
 1 a0097c0330
a0097c0330
 1 HG02258.hp2
HG02258.hp2
 synonymous_variant LOW c.3972G>A
c.3972G>A
 p.Ala1324Ala
p.Ala1324Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 4047/16005 3972/15267 1324/5088 chr8 143869282
chr8:143869675 G
G
 A
A
 1 a0002c0318
a0002c0318
 1 HG02486.hp1
HG02486.hp1
 synonymous_variant LOW c.3579C>T
c.3579C>T
 p.Arg1193Arg
p.Arg1193Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3654/16005 3579/15267 1193/5088 chr8 143869675
chr8:143869792 G
G
 A
A
 5 a0002c0318
a0015c0041
a0015c0316
others(2): Show 
a0002c0318
a0015c0041
a0015c0316
a0160c0317
a0225c0315
 6 HG02486.hp1
HG02559.hp1
HG02970.hp2
others(3): Show 
HG02486.hp1
HG02559.hp1
HG02970.hp2
HG03195.hp1
HG03516.hp2
HG03540.hp2
 synonymous_variant LOW c.3462C>T
c.3462C>T
 p.Thr1154Thr
p.Thr1154Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3537/16005 3462/15267 1154/5088 chr8 143869792
chr8:143869882 G
G
 A
A
 4 a0002c0320
a0016c0319
a0016c0322
others(1): Show 
a0002c0320
a0016c0319
a0016c0322
a0136c0321
 4 HG02080.hp2
NA18943.hp1
NA18973.hp2
others(1): Show 
HG02080.hp2
NA18943.hp1
NA18973.hp2
NA18993.hp1
 synonymous_variant LOW c.3372C>T
c.3372C>T
 p.Thr1124Thr
p.Thr1124Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3447/16005 3372/15267 1124/5088 chr8 143869882
chr8:143869993 C
C
 T
T
 105 a0008c0017
a0008c0021
a0009c0174
others(102): Show 
a0008c0017
a0008c0021
a0009c0174
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0036c0016
a0037c0075
a0037c0143
a0038c0019
a0039c0023
a0040c0018
a0041c0022
a0042c0088
a0042c0092
a0043c0085
a0043c0089
a0044c0020
a0045c0027
a0046c0026
a0047c0025
a0048c0060
a0048c0072
a0049c0028
a0050c0346
a0051c0345
a0105c0338
a0232c0057
a0233c0142
a0234c0065
a0235c0068
a0236c0067
a0237c0139
a0238c0077
a0239c0076
a0240c0078
a0241c0079
a0242c0116
a0243c0115
a0244c0111
a0245c0110
a0246c0113
a0247c0112
a0248c0109
a0249c0108
a0250c0114
a0251c0084
a0252c0107
a0253c0080
a0254c0081
a0255c0141
a0256c0082
a0257c0083
a0258c0106
a0259c0097
a0260c0103
a0261c0105
a0262c0104
a0263c0100
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0268c0122
a0269c0123
a0270c0093
a0271c0138
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0285c0124
a0286c0061
a0287c0129
a0288c0086
a0289c0126
a0290c0128
a0291c0127
a0292c0125
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0297c0071
a0298c0070
a0299c0059
a0300c0073
a0301c0069
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 120 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(117): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02165.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 synonymous_variant LOW c.3261G>A
c.3261G>A
 p.Pro1087Pro
p.Pro1087Pro
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3336/16005 3261/15267 1087/5088 chr8 143869993
chr8:143870008 T
T
 C
C
 179 a0003c0008
a0003c0030
a0003c0031
others(176): Show 
a0003c0008
a0003c0030
a0003c0031
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0011c0007
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0024c0029
a0025c0161
a0025c0162
a0026c0185
a0026c0186
a0027c0042
a0036c0016
a0037c0075
a0037c0143
a0038c0019
a0039c0023
a0040c0018
a0041c0022
a0042c0088
a0042c0092
a0043c0085
a0043c0089
a0044c0020
a0045c0027
a0046c0026
a0047c0025
a0048c0060
a0048c0072
a0049c0028
a0050c0346
a0051c0345
a0053c0144
a0054c0340
a0055c0341
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0061c0157
a0062c0156
a0063c0159
a0064c0150
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0069c0151
a0070c0145
a0071c0347
a0072c0160
a0073c0339
a0075c0199
a0076c0198
a0077c0175
a0078c0177
a0079c0342
a0080c0195
a0081c0194
a0082c0193
a0083c0188
a0084c0191
a0085c0190
a0086c0189
a0087c0192
a0088c0179
a0089c0183
a0090c0184
a0091c0180
a0092c0182
a0093c0176
a0094c0181
a0095c0196
a0096c0197
a0097c0330
a0101c0168
a0102c0169
a0103c0170
a0104c0167
a0105c0338
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0114c0173
a0115c0172
a0116c0171
a0120c0332
a0121c0333
a0122c0334
a0123c0331
a0174c0323
a0175c0324
a0223c0325
a0232c0057
a0233c0142
a0234c0065
a0235c0068
a0236c0067
a0237c0139
a0238c0077
a0239c0076
a0240c0078
a0241c0079
a0242c0116
a0243c0115
a0244c0111
a0245c0110
a0246c0113
a0247c0112
a0248c0109
a0249c0108
a0250c0114
a0251c0084
a0252c0107
a0253c0080
a0254c0081
a0255c0141
a0256c0082
a0257c0083
a0258c0106
a0259c0097
a0260c0103
a0261c0105
a0262c0104
a0263c0100
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0268c0122
a0269c0123
a0270c0093
a0271c0138
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0285c0124
a0286c0061
a0287c0129
a0288c0086
a0289c0126
a0290c0128
a0291c0127
a0292c0125
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0297c0071
a0298c0070
a0299c0059
a0300c0073
a0301c0069
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 202 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(199): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.3246A>G
c.3246A>G
 p.Glu1082Glu
p.Glu1082Glu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 3321/16005 3246/15267 1082/5088 chr8 143870008
chr8:143870470 G
G
 A
A
 32 a0003c0008
a0003c0030
a0003c0031
others(29): Show 
a0003c0008
a0003c0030
a0003c0031
a0009c0178
a0009c0187
a0026c0185
a0026c0186
a0053c0144
a0054c0340
a0055c0341
a0075c0199
a0076c0198
a0077c0175
a0078c0177
a0079c0342
a0080c0195
a0081c0194
a0082c0193
a0083c0188
a0084c0191
a0085c0190
a0086c0189
a0087c0192
a0088c0179
a0089c0183
a0090c0184
a0091c0180
a0092c0182
a0093c0176
a0094c0181
a0095c0196
a0096c0197
 36 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(33): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01192.hp2
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG02004.hp1
HG02698.hp2
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03654.hp1
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19030.hp2
NA19084.hp2
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.2784C>T
c.2784C>T
 p.Gly928Gly
p.Gly928Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2859/16005 2784/15267 928/5088 chr8 143870470
chr8:143870491 G
G
 A
A
 2 a0027c0042
a0097c0330
a0027c0042
a0097c0330
 3 HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02258.hp2
HG02895.hp1
HG02896.hp2
 synonymous_variant LOW c.2763C>T
c.2763C>T
 p.Gly921Gly
p.Gly921Gly
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2838/16005 2763/15267 921/5088 chr8 143870491
chr8:143870839 C
C
 T
T
 1 a0221c0201
a0221c0201
 1 HG01109.hp1
HG01109.hp1
 synonymous_variant LOW c.2415G>A
c.2415G>A
 p.Leu805Leu
p.Leu805Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 2490/16005 2415/15267 805/5088 chr8 143870839
chr8:143871367 G
G
 A
A
 12 a0010c0015
a0010c0050
a0098c0055
others(9): Show 
a0010c0015
a0010c0050
a0098c0055
a0099c0054
a0100c0049
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0117c0051
a0118c0052
a0119c0053
 13 HG01109.hp2
HG02145.hp1
HG02647.hp1
others(10): Show 
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp1
HG03130.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG06807.hp2
NA20300.hp2
NA21309.hp1
 synonymous_variant LOW c.1887C>T
c.1887C>T
 p.Ala629Ala
p.Ala629Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1962/16005 1887/15267 629/5088 chr8 143871367
chr8:143871505 G
G
 A
A
 1 a0071c0347
a0071c0347
 1 NA20129.hp1
NA20129.hp1
 synonymous_variant LOW c.1749C>T
c.1749C>T
 p.Tyr583Tyr
p.Tyr583Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1824/16005 1749/15267 583/5088 chr8 143871505
chr8:143871934 G
G
 A
A
 1 a0071c0347
a0071c0347
 1 NA20129.hp1
NA20129.hp1
 synonymous_variant LOW c.1320C>T
c.1320C>T
 p.Asp440Asp
p.Asp440Asp
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1395/16005 1320/15267 440/5088 chr8 143871934
chr8:143871964 C
C
 A
A
 1 a0037c0143
a0037c0143
 1 NA19084.hp1
NA19084.hp1
 synonymous_variant LOW c.1290G>T
c.1290G>T
 p.Arg430Arg
p.Arg430Arg
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1365/16005 1290/15267 430/5088 chr8 143871964
chr8:143872084 C
C
 T
T
 169 a0003c0008
a0003c0030
a0003c0031
others(166): Show 
a0003c0008
a0003c0030
a0003c0031
a0008c0017
a0008c0021
a0009c0174
a0009c0178
a0009c0187
a0011c0007
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0024c0029
a0025c0161
a0025c0162
a0026c0185
a0026c0186
a0036c0016
a0037c0075
a0037c0143
a0038c0019
a0039c0023
a0040c0018
a0041c0022
a0042c0088
a0042c0092
a0043c0085
a0043c0089
a0044c0020
a0045c0027
a0046c0026
a0047c0025
a0048c0060
a0048c0072
a0049c0028
a0050c0346
a0051c0345
a0053c0144
a0054c0340
a0055c0341
a0056c0158
a0057c0153
a0058c0155
a0059c0152
a0060c0154
a0061c0157
a0062c0156
a0063c0159
a0064c0150
a0065c0149
a0066c0148
a0067c0147
a0068c0146
a0069c0151
a0070c0145
a0072c0160
a0073c0339
a0075c0199
a0076c0198
a0077c0175
a0078c0177
a0079c0342
a0080c0195
a0081c0194
a0082c0193
a0083c0188
a0084c0191
a0085c0190
a0086c0189
a0087c0192
a0088c0179
a0089c0183
a0090c0184
a0091c0180
a0092c0182
a0093c0176
a0094c0181
a0095c0196
a0096c0197
a0101c0168
a0102c0169
a0103c0170
a0104c0167
a0105c0338
a0106c0164
a0107c0166
a0108c0165
a0109c0163
a0114c0173
a0115c0172
a0116c0171
a0232c0057
a0233c0142
a0234c0065
a0235c0068
a0236c0067
a0237c0139
a0238c0077
a0239c0076
a0240c0078
a0241c0079
a0242c0116
a0243c0115
a0244c0111
a0245c0110
a0246c0113
a0247c0112
a0248c0109
a0249c0108
a0250c0114
a0251c0084
a0252c0107
a0253c0080
a0254c0081
a0255c0141
a0256c0082
a0257c0083
a0258c0106
a0259c0097
a0260c0103
a0261c0105
a0262c0104
a0263c0100
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0268c0122
a0269c0123
a0270c0093
a0271c0138
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0285c0124
a0286c0061
a0287c0129
a0288c0086
a0289c0126
a0290c0128
a0291c0127
a0292c0125
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0297c0071
a0298c0070
a0299c0059
a0300c0073
a0301c0069
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 191 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(188): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02145.hp2
HG02165.hp1
HG02280.hp2
HG02293.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19009.hp2
NA19011.hp2
NA19012.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.1170G>A
c.1170G>A
 p.Leu390Leu
p.Leu390Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1245/16005 1170/15267 390/5088 chr8 143872084
chr8:143872177 G
G
 A
A
 101 a0008c0017
a0008c0021
a0021c0006
others(98): Show 
a0008c0017
a0008c0021
a0021c0006
a0022c0024
a0022c0094
a0023c0095
a0023c0096
a0023c0102
a0036c0016
a0037c0075
a0037c0143
a0038c0019
a0039c0023
a0040c0018
a0041c0022
a0042c0088
a0042c0092
a0043c0085
a0043c0089
a0044c0020
a0045c0027
a0046c0026
a0047c0025
a0048c0072
a0049c0028
a0050c0346
a0051c0345
a0105c0338
a0232c0057
a0233c0142
a0234c0065
a0235c0068
a0236c0067
a0237c0139
a0238c0077
a0239c0076
a0240c0078
a0241c0079
a0242c0116
a0243c0115
a0244c0111
a0245c0110
a0246c0113
a0247c0112
a0248c0109
a0249c0108
a0250c0114
a0251c0084
a0252c0107
a0253c0080
a0254c0081
a0255c0141
a0256c0082
a0257c0083
a0258c0106
a0259c0097
a0260c0103
a0261c0105
a0262c0104
a0263c0100
a0264c0099
a0265c0101
a0266c0098
a0267c0137
a0268c0122
a0269c0123
a0270c0093
a0271c0138
a0272c0091
a0273c0090
a0274c0135
a0275c0120
a0276c0133
a0277c0121
a0278c0074
a0279c0087
a0280c0134
a0281c0132
a0282c0140
a0283c0130
a0284c0131
a0285c0124
a0287c0129
a0288c0086
a0289c0126
a0290c0128
a0291c0127
a0292c0125
a0293c0136
a0294c0119
a0295c0117
a0296c0118
a0297c0071
a0298c0070
a0300c0073
a0301c0069
a0302c0066
a0303c0062
a0304c0064
a0305c0063
a0306c0058
 116 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(113): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02165.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp2
NA18970.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 synonymous_variant LOW c.1077C>T
c.1077C>T
 p.Ala359Ala
p.Ala359Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1152/16005 1077/15267 359/5088 chr8 143872177
chr8:143872245 G
G
 A
A
 1 a0073c0339
a0073c0339
 1 HG02109.hp1
HG02109.hp1
 synonymous_variant LOW c.1009C>T
c.1009C>T
 p.Leu337Leu
p.Leu337Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 1084/16005 1009/15267 337/5088 chr8 143872245
chr8:143872453 G
G
 A
A
 1 a0079c0342
a0079c0342
 1 NA18974.hp1
NA18974.hp1
 synonymous_variant LOW c.801C>T
c.801C>T
 p.Ala267Ala
p.Ala267Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 876/16005 801/15267 267/5088 chr8 143872453
chr8:143872576 T
T
 G
G
 1 a0186c0344
a0186c0344
 1 NA18969.hp2
NA18969.hp2
 synonymous_variant LOW c.678A>C
c.678A>C
 p.Leu226Leu
p.Leu226Leu
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 753/16005 678/15267 226/5088 chr8 143872576
chr8:143872876 G
G
 A
A
 1 a0014c0044
a0014c0044
 2 HG01070.hp1
HG01071.hp2
HG01070.hp1
HG01071.hp2
 synonymous_variant LOW c.378C>T
c.378C>T
 p.Tyr126Tyr
p.Tyr126Tyr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 453/16005 378/15267 126/5088 chr8 143872876
chr8:143872894 C
C
 T
T
 12 a0010c0015
a0010c0050
a0098c0055
others(9): Show 
a0010c0015
a0010c0050
a0098c0055
a0099c0054
a0100c0049
a0110c0046
a0111c0047
a0112c0045
a0113c0048
a0117c0051
a0118c0052
a0119c0053
 13 HG01109.hp2
HG02145.hp1
HG02647.hp1
others(10): Show 
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp1
HG03130.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG06807.hp2
NA20300.hp2
NA21309.hp1
 synonymous_variant LOW c.360G>A
c.360G>A
 p.Thr120Thr
p.Thr120Thr
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 435/16005 360/15267 120/5088 chr8 143872894
chr8:143873077 G
G
 A
A
 1 a0071c0347
a0071c0347
 1 NA20129.hp1
NA20129.hp1
 synonymous_variant LOW c.177C>T
c.177C>T
 p.Ala59Ala
p.Ala59Ala
 EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 252/16005 177/15267 59/5088 chr8 143873077

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
chr8:143857341 T
T
 C
C
 1 a0265c0101t0025
a0265c0101t0025
 1 NA18978.hp1
NA18978.hp1
 3_prime_UTR_variant MODIFIER c.*646A>G
c.*646A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 646 chr8 143857341
chr8:143857366 T
T
 G
G
 150 a0007c0013t0002
a0007c0013t0006
a0007c0013t0012
others(147): Show 
a0007c0013t0002
a0007c0013t0006
a0007c0013t0012
a0007c0273t0002
a0008c0017t0002
a0008c0021t0002
a0009c0174t0014
a0009c0178t0014
a0009c0187t0014
a0014c0044t0002
a0014c0280t0006
a0021c0006t0002
a0021c0006t0007
a0022c0024t0002
a0022c0094t0006
a0023c0095t0002
a0023c0096t0002
a0023c0102t0002
a0026c0185t0002
a0026c0186t0002
a0030c0257t0002
a0030c0258t0002
a0033c0213t0002
a0033c0268t0006
a0034c0260t0002
a0034c0261t0006
a0037c0075t0002
a0037c0143t0002
a0038c0019t0002
a0038c0019t0012
a0039c0023t0002
a0039c0023t0007
a0040c0018t0002
a0041c0022t0002
a0042c0088t0002
a0042c0092t0002
a0043c0085t0026
a0043c0089t0002
a0044c0020t0002
a0045c0027t0002
a0045c0027t0006
a0046c0026t0002
a0047c0025t0002
a0049c0028t0002
a0051c0345t0002
a0053c0144t0002
a0065c0149t0002
a0066c0148t0007
a0067c0147t0002
a0072c0160t0009
a0073c0339t0009
a0074c0335t0002
a0077c0175t0012
a0084c0191t0012
a0087c0192t0012
a0089c0183t0002
a0090c0184t0007
a0091c0180t0002
a0093c0176t0007
a0094c0181t0007
a0095c0196t0002
a0096c0197t0002
a0098c0055t0009
a0105c0338t0007
a0106c0164t0009
a0107c0166t0009
a0108c0165t0009
a0109c0163t0009
a0116c0171t0009
a0130c0283t0006
a0153c0279t0002
a0154c0291t0002
a0155c0292t0002
a0156c0290t0002
a0157c0278t0002
a0158c0289t0002
a0159c0288t0023
a0162c0284t0002
a0163c0313t0002
a0164c0276t0006
a0165c0207t0002
a0202c0218t0002
a0206c0221t0002
a0207c0219t0006
a0208c0220t0002
a0210c0263t0002
a0211c0262t0002
a0215c0269t0002
a0216c0264t0002
a0217c0267t0002
a0218c0266t0002
a0219c0265t0002
a0222c0205t0002
a0230c0337t0002
a0232c0057t0002
a0233c0142t0002
a0235c0068t0002
a0236c0067t0002
a0238c0077t0002
a0239c0076t0002
a0240c0078t0002
a0241c0079t0002
a0244c0111t0002
a0245c0110t0002
a0246c0113t0002
a0253c0080t0007
a0254c0081t0002
a0255c0141t0002
a0256c0082t0002
a0257c0083t0002
a0258c0106t0002
a0259c0097t0002
a0260c0103t0002
a0261c0105t0002
a0262c0104t0002
a0263c0100t0002
a0264c0099t0007
a0265c0101t0025
a0266c0098t0002
a0268c0122t0002
a0269c0123t0002
a0272c0091t0002
a0273c0090t0007
a0274c0135t0007
a0275c0120t0002
a0276c0133t0007
a0277c0121t0002
a0278c0074t0002
a0279c0087t0002
a0280c0134t0006
a0281c0132t0002
a0282c0140t0002
a0283c0130t0002
a0284c0131t0002
a0285c0124t0007
a0286c0061t0002
a0287c0129t0002
a0288c0086t0002
a0289c0126t0002
a0291c0127t0002
a0292c0125t0002
a0293c0136t0002
a0294c0119t0002
a0295c0117t0002
a0296c0118t0002
a0302c0066t0002
a0303c0062t0006
a0304c0064t0006
a0305c0063t0006
a0306c0058t0002
 161 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(158): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00735.hp1
HG00738.hp1
HG00741.hp1
HG01069.hp1
HG01070.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03195.hp2
HG03239.hp1
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19011.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*621A>C
c.*621A>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 621 chr8 143857366
chr8:143857437 G
G
 A
A
 1 a0043c0085t0026
a0043c0085t0026
 1 HG01074.hp1
HG01074.hp1
 3_prime_UTR_variant MODIFIER c.*550C>T
c.*550C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 550 chr8 143857437
chr8:143857596 G
G
 A
A
 3 a0009c0174t0014
a0009c0178t0014
a0009c0187t0014
a0009c0174t0014
a0009c0178t0014
a0009c0187t0014
 3 HG01257.hp1
HG01952.hp2
HG02004.hp1
HG01257.hp1
HG01952.hp2
HG02004.hp1
 3_prime_UTR_variant MODIFIER c.*391C>T
c.*391C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 391 chr8 143857596
chr8:143857605 G
G
 A
A
 1 a0194c0230t0021
a0194c0230t0021
 1 HG02257.hp2
HG02257.hp2
 3_prime_UTR_variant MODIFIER c.*382C>T
c.*382C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 382 chr8 143857605
chr8:143857676 T
T
 C
C
 13 a0002c0320t0008
a0013c0014t0008
a0013c0014t0011
others(10): Show 
a0002c0320t0008
a0013c0014t0008
a0013c0014t0011
a0016c0312t0008
a0016c0319t0008
a0016c0322t0008
a0020c0032t0008
a0020c0032t0015
a0020c0223t0015
a0035c0043t0011
a0136c0321t0008
a0151c0281t0008
a0229c0336t0011
 15 HG00544.hp1
HG02027.hp2
HG02071.hp2
others(12): Show 
HG00544.hp1
HG02027.hp2
HG02071.hp2
HG02080.hp2
NA18612.hp1
NA18943.hp1
NA18947.hp1
NA18950.hp1
NA18956.hp2
NA18973.hp1
NA18973.hp2
NA18993.hp1
NA18995.hp2
NA18997.hp1
NA19000.hp1
 3_prime_UTR_variant MODIFIER c.*311A>G
c.*311A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 311 chr8 143857676
chr8:143857696 G
G
 T
T
 1 a0052c0056t0018
a0052c0056t0018
 1 HG01934.hp1
HG01934.hp1
 3_prime_UTR_variant MODIFIER c.*291C>A
c.*291C>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 291 chr8 143857696
chr8:143857746 G
G
 A
A
 1 a0139c0314t0019
a0139c0314t0019
 1 NA19066.hp2
NA19066.hp2
 3_prime_UTR_variant MODIFIER c.*241C>T
c.*241C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 241 chr8 143857746
chr8:143857755 T
T
 A
A
 1 a0298c0070t0020
a0298c0070t0020
 1 HG02683.hp2
HG02683.hp2
 3_prime_UTR_variant MODIFIER c.*232A>T
c.*232A>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 232 chr8 143857755
chr8:143857769 G
G
 A
A
 1 a0054c0340t0027
a0054c0340t0027
 1 HG01884.hp1
HG01884.hp1
 3_prime_UTR_variant MODIFIER c.*218C>T
c.*218C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 218 chr8 143857769
chr8:143857824 T
T
 A
A
 3 a0054c0340t0027
a0055c0341t0016
a0223c0325t0016
a0054c0340t0027
a0055c0341t0016
a0223c0325t0016
 3 HG01884.hp1
NA19030.hp1
NA19030.hp2
HG01884.hp1
NA19030.hp1
NA19030.hp2
 3_prime_UTR_variant MODIFIER c.*163A>T
c.*163A>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 163 chr8 143857824
chr8:143857896 C
C
 CA
CA
 36 a0001c0001t0005
a0002c0299t0005
a0004c0234t0005
others(33): Show 
a0001c0001t0005
a0002c0299t0005
a0004c0234t0005
a0015c0041t0013
a0020c0032t0015
a0020c0223t0015
a0021c0006t0007
a0039c0023t0007
a0066c0148t0007
a0090c0184t0007
a0092c0182t0013
a0093c0176t0007
a0094c0181t0007
a0101c0168t0005
a0103c0170t0005
a0105c0338t0007
a0124c0327t0005
a0129c0311t0013
a0161c0306t0005
a0167c0215t0005
a0173c0225t0005
a0177c0228t0005
a0194c0230t0021
a0203c0224t0005
a0224c0204t0005
a0226c0326t0005
a0234c0065t0005
a0243c0115t0013
a0248c0109t0005
a0251c0084t0005
a0253c0080t0007
a0264c0099t0007
a0273c0090t0007
a0274c0135t0007
a0276c0133t0007
a0285c0124t0007
 36 HG00423.hp1
HG00544.hp1
HG00609.hp2
others(33): Show 
HG00423.hp1
HG00544.hp1
HG00609.hp2
HG00621.hp1
HG00741.hp1
HG01106.hp2
HG01175.hp1
HG01192.hp1
HG01361.hp2
HG01433.hp2
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02080.hp1
HG02145.hp2
HG02257.hp2
HG02300.hp1
HG02572.hp1
HG02622.hp2
HG02698.hp2
HG03516.hp2
HG03654.hp1
HG04184.hp1
HG04204.hp2
NA18942.hp2
NA18950.hp1
NA18956.hp1
NA18962.hp2
NA18974.hp2
NA18975.hp2
NA18979.hp2
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA19002.hp2
NA19076.hp1
 3_prime_UTR_variant MODIFIER c.*90dupT
c.*90dupT
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 90 chr8 143857896
chr8:143857896 CA
CA
 C
C
 42 a0001c0005t0004
a0001c0035t0004
a0003c0031t0024
others(39): Show 
a0001c0005t0004
a0001c0035t0004
a0003c0031t0024
a0006c0003t0004
a0007c0013t0006
a0013c0014t0011
a0014c0280t0006
a0019c0038t0004
a0022c0094t0006
a0027c0042t0004
a0028c0039t0004
a0029c0040t0004
a0032c0037t0004
a0033c0268t0006
a0034c0261t0006
a0035c0043t0011
a0045c0027t0006
a0061c0157t0004
a0062c0156t0004
a0063c0159t0004
a0069c0151t0004
a0097c0330t0004
a0100c0049t0010
a0110c0046t0010
a0111c0047t0010
a0112c0045t0010
a0113c0048t0010
a0117c0051t0004
a0119c0053t0004
a0121c0333t0004
a0123c0331t0004
a0130c0283t0006
a0132c0286t0004
a0164c0276t0006
a0207c0219t0006
a0209c0214t0010
a0212c0271t0004
a0229c0336t0011
a0280c0134t0006
a0303c0062t0006
a0304c0064t0006
a0305c0063t0006
 44 HG01069.hp1
HG01074.hp2
HG01099.hp2
others(41): Show 
HG01069.hp1
HG01074.hp2
HG01099.hp2
HG01167.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp2
HG02027.hp2
HG02258.hp2
HG02280.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02630.hp2
HG02723.hp2
HG02735.hp2
HG02809.hp1
HG02895.hp1
HG02895.hp2
HG02922.hp1
HG02922.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03225.hp1
HG03516.hp1
HG03540.hp1
NA18906.hp1
NA18947.hp1
NA18951.hp2
NA18954.hp2
NA18960.hp2
NA18972.hp2
NA18973.hp1
NA18977.hp1
NA18982.hp1
NA18995.hp2
NA18997.hp1
NA19012.hp2
NA19055.hp1
NA19085.hp1
NA19089.hp2
NA20300.hp2
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*90delT
c.*90delT
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 90 chr8 143857896
chr8:143857896 CAAAAAAA
others(1): Show 
CAAAAAAAA
 C
C
 8 a0072c0160t0009
a0073c0339t0009
a0098c0055t0009
others(5): Show 
a0072c0160t0009
a0073c0339t0009
a0098c0055t0009
a0106c0164t0009
a0107c0166t0009
a0108c0165t0009
a0109c0163t0009
a0116c0171t0009
 8 HG01109.hp2
HG01175.hp2
HG02109.hp1
others(5): Show 
HG01109.hp2
HG01175.hp2
HG02109.hp1
HG02559.hp2
HG02965.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
 3_prime_UTR_variant MODIFIER c.*83_*90delTTTTTTTT
c.*83_*90delTTTTTTTT
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 83 chr8 143857896
chr8:143857897 A
A
 C
C
 1 a0159c0288t0023
a0159c0288t0023
 1 NA19055.hp2
NA19055.hp2
 3_prime_UTR_variant MODIFIER c.*90T>G
c.*90T>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 90 chr8 143857897
chr8:143857909 A
A
 C
C
 6 a0100c0049t0010
a0110c0046t0010
a0111c0047t0010
others(3): Show 
a0100c0049t0010
a0110c0046t0010
a0111c0047t0010
a0112c0045t0010
a0113c0048t0010
a0209c0214t0010
 6 HG02723.hp2
HG03130.hp2
HG03139.hp1
others(3): Show 
HG02723.hp2
HG03130.hp2
HG03139.hp1
HG03516.hp1
HG03540.hp1
NA21309.hp1
 3_prime_UTR_variant MODIFIER c.*78T>G
c.*78T>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 78 chr8 143857909
chr8:143857915 A
A
 C
C
 1 a0183c0239t0017
a0183c0239t0017
 1 NA19058.hp2
NA19058.hp2
 3_prime_UTR_variant MODIFIER c.*72T>G
c.*72T>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 72 chr8 143857915
chr8:143857936 G
G
 A
A
 1 a0128c0277t0022
a0128c0277t0022
 1 HG02896.hp1
HG02896.hp1
 3_prime_UTR_variant MODIFIER c.*51C>T
c.*51C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 51 chr8 143857936
chr8:143857945 C
C
 A
A
 175 a0003c0008t0003
a0003c0030t0003
a0003c0031t0003
others(172): Show 
a0003c0008t0003
a0003c0030t0003
a0003c0031t0003
a0003c0031t0024
a0007c0013t0002
a0007c0013t0006
a0007c0273t0002
a0008c0017t0002
a0008c0021t0002
a0009c0174t0014
a0009c0178t0014
a0009c0187t0014
a0014c0044t0002
a0014c0280t0006
a0015c0041t0003
a0015c0041t0013
a0015c0316t0003
a0021c0006t0002
a0021c0006t0007
a0022c0024t0002
a0022c0094t0006
a0023c0095t0002
a0023c0096t0002
a0023c0102t0002
a0026c0185t0002
a0026c0186t0002
a0030c0257t0002
a0030c0258t0002
a0033c0213t0002
a0033c0268t0006
a0034c0260t0002
a0034c0261t0006
a0037c0075t0002
a0037c0143t0002
a0038c0019t0002
a0039c0023t0002
a0039c0023t0007
a0040c0018t0002
a0041c0022t0002
a0042c0088t0002
a0042c0092t0002
a0043c0085t0026
a0043c0089t0002
a0044c0020t0002
a0045c0027t0002
a0045c0027t0006
a0046c0026t0002
a0047c0025t0002
a0049c0028t0002
a0051c0345t0002
a0053c0144t0002
a0054c0340t0027
a0055c0341t0016
a0065c0149t0002
a0066c0148t0007
a0067c0147t0002
a0068c0146t0003
a0072c0160t0009
a0073c0339t0009
a0074c0335t0002
a0075c0199t0003
a0076c0198t0003
a0078c0177t0003
a0079c0342t0003
a0080c0195t0003
a0081c0194t0003
a0082c0193t0003
a0089c0183t0002
a0090c0184t0007
a0091c0180t0002
a0092c0182t0013
a0093c0176t0007
a0094c0181t0007
a0095c0196t0002
a0096c0197t0002
a0098c0055t0009
a0105c0338t0007
a0106c0164t0009
a0107c0166t0009
a0108c0165t0009
a0109c0163t0009
a0116c0171t0009
a0120c0332t0003
a0122c0334t0003
a0129c0311t0013
a0130c0283t0006
a0133c0310t0003
a0153c0279t0002
a0154c0291t0002
a0155c0292t0002
a0156c0290t0002
a0157c0278t0002
a0158c0289t0002
a0159c0288t0023
a0160c0317t0003
a0162c0284t0002
a0163c0313t0002
a0164c0276t0006
a0165c0207t0002
a0166c0212t0003
a0202c0218t0002
a0206c0221t0002
a0207c0219t0006
a0208c0220t0002
a0210c0263t0002
a0211c0262t0002
a0215c0269t0002
a0216c0264t0002
a0217c0267t0002
a0218c0266t0002
a0219c0265t0002
a0222c0205t0002
a0223c0325t0016
a0225c0315t0003
a0228c0328t0003
a0230c0337t0002
a0232c0057t0002
a0233c0142t0002
a0235c0068t0002
a0236c0067t0002
a0238c0077t0002
a0239c0076t0002
a0240c0078t0002
a0241c0079t0002
a0242c0116t0003
a0243c0115t0013
a0244c0111t0002
a0245c0110t0002
a0246c0113t0002
a0253c0080t0007
a0254c0081t0002
a0255c0141t0002
a0256c0082t0002
a0257c0083t0002
a0258c0106t0002
a0259c0097t0002
a0260c0103t0002
a0261c0105t0002
a0262c0104t0002
a0263c0100t0002
a0264c0099t0007
a0265c0101t0025
a0266c0098t0002
a0267c0137t0003
a0268c0122t0002
a0269c0123t0002
a0272c0091t0002
a0273c0090t0007
a0274c0135t0007
a0275c0120t0002
a0276c0133t0007
a0277c0121t0002
a0278c0074t0002
a0279c0087t0002
a0280c0134t0006
a0281c0132t0002
a0282c0140t0002
a0283c0130t0002
a0284c0131t0002
a0285c0124t0007
a0286c0061t0002
a0287c0129t0002
a0288c0086t0002
a0289c0126t0002
a0291c0127t0002
a0292c0125t0002
a0293c0136t0002
a0294c0119t0002
a0295c0117t0002
a0296c0118t0002
a0302c0066t0002
a0303c0062t0006
a0304c0064t0006
a0305c0063t0006
a0306c0058t0002
 189 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(186): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02145.hp2
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02293.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02965.hp2
HG02970.hp2
HG03017.hp1
HG03195.hp1
HG03195.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp2
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp2
NA18957.hp1
NA18960.hp1
NA18963.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18974.hp1
NA18975.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19080.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA19240.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*42G>T
c.*42G>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 2/2 42 chr8 143857945

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
chr8:143873363 G
G
 C
C
 9 a0064c0150t0001g0051
a0069c0151t0004g0052
a0071c0347t0001g0063
others(6): Show 
a0064c0150t0001g0051
a0069c0151t0004g0052
a0071c0347t0001g0063
a0114c0173t0001g0064
a0115c0172t0001g0221
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
 9 HG02630.hp1
HG02717.hp2
HG02723.hp1
others(6): Show 
HG02630.hp1
HG02717.hp2
HG02723.hp1
HG03130.hp1
HG03225.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.-45-65C>G
c.-45-65C>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873363
chr8:143873365 T
T
 C
C
 1 a0001c0001t0001g0191
a0001c0001t0001g0191
 1 HG01928.hp2
HG01928.hp2
 intron_variant MODIFIER c.-45-67A>G
c.-45-67A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873365
chr8:143873389 C
C
 T
T
 1 a0306c0058t0002g0234
a0306c0058t0002g0234
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.-45-91G>A
c.-45-91G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873389
chr8:143873422 A
A
 T
T
 115 a0001c0001t0001g0095
a0001c0001t0001g0308
a0008c0017t0002g0014
others(112): Show 
a0001c0001t0001g0095
a0001c0001t0001g0308
a0008c0017t0002g0014
a0008c0021t0002g0015
a0021c0006t0002g0028
a0021c0006t0007g0037
a0022c0024t0002g0169
a0022c0094t0006g0152
a0023c0095t0002g0294
a0023c0096t0002g0318
a0023c0102t0002g0342
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0038c0019t0002g0245
a0038c0019t0012g0163
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0042c0088t0002g0371
a0042c0092t0002g0377
a0043c0085t0026g0165
a0043c0089t0002g0042
a0044c0020t0002g0020
a0045c0027t0002g0363
a0045c0027t0006g0362
a0046c0026t0002g0302
a0046c0026t0002g0347
a0047c0025t0002g0024
a0048c0060t0001g0333
a0048c0072t0001g0159
a0049c0028t0002g0016
a0050c0346t0001g0306
a0051c0345t0002g0280
a0052c0056t0018g0283
a0166c0212t0003g0109
a0171c0253t0001g0085
a0177c0228t0005g0031
a0182c0232t0001g0094
a0210c0263t0002g0110
a0215c0269t0002g0111
a0221c0201t0001g0108
a0232c0057t0002g0154
a0233c0142t0002g0030
a0234c0065t0005g0291
a0235c0068t0002g0156
a0236c0067t0002g0155
a0237c0139t0001g0043
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0241c0079t0002g0089
a0242c0116t0003g0298
a0243c0115t0013g0297
a0244c0111t0002g0173
a0245c0110t0002g0172
a0246c0113t0002g0083
a0247c0112t0001g0296
a0248c0109t0005g0257
a0249c0108t0001g0295
a0250c0114t0001g0319
a0251c0084t0005g0277
a0252c0107t0001g0171
a0253c0080t0007g0161
a0254c0081t0002g0162
a0255c0141t0002g0232
a0256c0082t0002g0164
a0257c0083t0002g0053
a0258c0106t0002g0170
a0259c0097t0002g0334
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0264c0099t0007g0168
a0265c0101t0025g0288
a0266c0098t0002g0090
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0271c0138t0001g0365
a0272c0091t0002g0167
a0273c0090t0007g0372
a0274c0135t0007g0364
a0275c0120t0002g0174
a0276c0133t0007g0322
a0277c0121t0002g0175
a0278c0074t0002g0195
a0279c0087t0002g0166
a0280c0134t0006g0044
a0281c0132t0002g0303
a0282c0140t0002g0305
a0286c0061t0002g0315
a0287c0129t0002g0290
a0288c0086t0002g0381
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0294c0119t0002g0321
a0295c0117t0002g0323
a0296c0118t0002g0320
a0297c0071t0001g0380
a0298c0070t0020g0158
a0299c0059t0001g0332
a0300c0073t0001g0160
a0301c0069t0001g0157
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 124 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(121): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG00738.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01934.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02165.hp1
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02738.hp1
HG02738.hp2
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18974.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp2
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19005.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.-45-124T>A
c.-45-124T>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873422
chr8:143873463 G
G
 A
A
 1 a0179c0229t0001g0150
a0179c0229t0001g0150
 1 NA19004.hp2
NA19004.hp2
 intron_variant MODIFIER c.-45-165C>T
c.-45-165C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873463
chr8:143873546 C
C
 T
T
 13 a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
others(10): Show 
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0098c0055t0009g0211
a0099c0054t0001g0103
a0100c0049t0010g0040
a0110c0046t0010g0071
a0111c0047t0010g0072
a0112c0045t0010g0070
a0113c0048t0010g0216
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
 13 HG01109.hp2
HG02145.hp1
HG02647.hp1
others(10): Show 
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp1
HG03130.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG06807.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-45-248G>A
c.-45-248G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873546
chr8:143873604 C
C
 T
T
 1 a0157c0278t0002g0067
a0157c0278t0002g0067
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.-45-306G>A
c.-45-306G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873604
chr8:143873725 C
C
 A
A
 1 a0295c0117t0002g0323
a0295c0117t0002g0323
 1 HG01975.hp2
HG01975.hp2
 intron_variant MODIFIER c.-45-427G>T
c.-45-427G>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873725
chr8:143873752 C
C
 CCTTTGGG
others(7): Show 
CCTTTGGGTGCCTCT
 116 a0008c0017t0002g0014
a0008c0021t0002g0015
a0021c0006t0002g0028
others(113): Show 
a0008c0017t0002g0014
a0008c0021t0002g0015
a0021c0006t0002g0028
a0021c0006t0007g0037
a0022c0024t0002g0153
a0022c0024t0002g0169
a0022c0094t0006g0152
a0023c0095t0002g0294
a0023c0096t0002g0318
a0023c0102t0002g0342
a0027c0042t0001g0035
a0027c0042t0004g0034
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0038c0019t0002g0245
a0038c0019t0012g0163
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0042c0088t0002g0371
a0042c0092t0002g0377
a0043c0085t0026g0165
a0043c0089t0002g0042
a0044c0020t0002g0020
a0045c0027t0002g0363
a0045c0027t0006g0362
a0046c0026t0002g0302
a0046c0026t0002g0347
a0047c0025t0002g0024
a0048c0060t0001g0333
a0048c0072t0001g0159
a0049c0028t0002g0016
a0050c0346t0001g0306
a0051c0345t0002g0280
a0071c0347t0001g0063
a0072c0160t0009g0036
a0073c0339t0009g0039
a0074c0335t0002g0307
a0097c0330t0004g0273
a0114c0173t0001g0064
a0115c0172t0001g0221
a0221c0201t0001g0108
a0232c0057t0002g0154
a0233c0142t0002g0030
a0234c0065t0005g0291
a0235c0068t0002g0156
a0236c0067t0002g0155
a0237c0139t0001g0043
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0241c0079t0002g0089
a0242c0116t0003g0298
a0243c0115t0013g0297
a0244c0111t0002g0173
a0245c0110t0002g0172
a0246c0113t0002g0083
a0247c0112t0001g0296
a0248c0109t0005g0257
a0249c0108t0001g0295
a0250c0114t0001g0319
a0251c0084t0005g0277
a0252c0107t0001g0171
a0253c0080t0007g0161
a0254c0081t0002g0162
a0255c0141t0002g0232
a0256c0082t0002g0164
a0257c0083t0002g0053
a0258c0106t0002g0170
a0259c0097t0002g0334
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0264c0099t0007g0168
a0265c0101t0025g0288
a0266c0098t0002g0090
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0271c0138t0001g0365
a0272c0091t0002g0167
a0273c0090t0007g0372
a0274c0135t0007g0364
a0275c0120t0002g0174
a0276c0133t0007g0322
a0277c0121t0002g0175
a0278c0074t0002g0195
a0279c0087t0002g0166
a0280c0134t0006g0044
a0281c0132t0002g0303
a0282c0140t0002g0305
a0286c0061t0002g0315
a0287c0129t0002g0290
a0288c0086t0002g0381
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0294c0119t0002g0321
a0295c0117t0002g0323
a0296c0118t0002g0320
a0297c0071t0001g0380
a0298c0070t0020g0158
a0299c0059t0001g0332
a0300c0073t0001g0160
a0301c0069t0001g0157
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 125 HG00099.hp1
HG00140.hp2
HG00280.hp2
others(122): Show 
HG00099.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp2
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00735.hp1
HG01069.hp1
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02027.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp1
HG02109.hp1
HG02165.hp1
HG02258.hp2
HG02293.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
HG03239.hp1
HG03239.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03710.hp1
HG03710.hp2
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18957.hp1
NA18963.hp2
NA18970.hp2
NA18971.hp2
NA18978.hp1
NA18979.hp2
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18991.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp2
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19080.hp1
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp2
 intron_variant MODIFIER c.-45-455_-45-454ins
others(14): Show 
c.-45-455_-45-454insAGAGGCACCCAAAG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873752
chr8:143873755 T
T
 TTGGGTGC
others(5): Show 
TTGGGTGCCTCTC
 13 a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
others(10): Show 
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0098c0055t0009g0211
a0099c0054t0001g0103
a0100c0049t0010g0040
a0110c0046t0010g0071
a0111c0047t0010g0072
a0112c0045t0010g0070
a0113c0048t0010g0216
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
 13 HG01109.hp2
HG02145.hp1
HG02647.hp1
others(10): Show 
HG01109.hp2
HG02145.hp1
HG02647.hp1
HG02723.hp2
HG02886.hp2
HG02922.hp1
HG03130.hp2
HG03453.hp2
HG03516.hp1
HG03540.hp1
HG06807.hp2
NA20300.hp2
NA21309.hp1
 intron_variant MODIFIER c.-45-458_-45-457ins
others(12): Show 
c.-45-458_-45-457insGAGAGGCACCCA
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873755
chr8:143873786 G
G
 A
A
 2 a0001c0001t0001g0093
a0001c0001t0005g0151
a0001c0001t0001g0093
a0001c0001t0005g0151
 2 NA18962.hp2
NA18999.hp2
NA18962.hp2
NA18999.hp2
 intron_variant MODIFIER c.-45-488C>T
c.-45-488C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873786
chr8:143873898 C
C
 G
G
 2 a0022c0024t0002g0153
a0022c0094t0006g0152
a0022c0024t0002g0153
a0022c0094t0006g0152
 2 HG01069.hp1
HG02698.hp1
HG01069.hp1
HG02698.hp1
 intron_variant MODIFIER c.-45-600G>C
c.-45-600G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143873898
chr8:143874060 C
C
 T
T
 2 a0114c0173t0001g0064
a0115c0172t0001g0221
a0114c0173t0001g0064
a0115c0172t0001g0221
 2 HG03130.hp1
NA20129.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.-45-762G>A
c.-45-762G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874060
chr8:143874076 G
G
 A
A
 5 a0027c0042t0001g0035
a0027c0042t0004g0034
a0072c0160t0009g0036
others(2): Show 
a0027c0042t0001g0035
a0027c0042t0004g0034
a0072c0160t0009g0036
a0073c0339t0009g0039
a0097c0330t0004g0273
 5 HG02109.hp1
HG02258.hp2
HG02895.hp1
others(2): Show 
HG02109.hp1
HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
 intron_variant MODIFIER c.-45-778C>T
c.-45-778C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874076
chr8:143874254 C
C
 T
T
 1 a0131c0285t0001g0214
a0131c0285t0001g0214
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-45-956G>A
c.-45-956G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874254
chr8:143874274 G
G
 A
A
 1 a0088c0179t0001g0341
a0088c0179t0001g0341
 1 NA19009.hp2
NA19009.hp2
 intron_variant MODIFIER c.-45-976C>T
c.-45-976C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874274
chr8:143874291 C
C
 G
G
 7 a0027c0042t0001g0035
a0027c0042t0004g0034
a0072c0160t0009g0036
others(4): Show 
a0027c0042t0001g0035
a0027c0042t0004g0034
a0072c0160t0009g0036
a0073c0339t0009g0039
a0097c0330t0004g0273
a0114c0173t0001g0064
a0115c0172t0001g0221
 7 HG02109.hp1
HG02258.hp2
HG02895.hp1
others(4): Show 
HG02109.hp1
HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02965.hp2
HG03130.hp1
NA20129.hp2
 intron_variant MODIFIER c.-45-993G>C
c.-45-993G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874291
chr8:143874495 G
G
 A
A
 7 a0015c0316t0003g0227
a0098c0055t0009g0211
a0106c0164t0009g0224
others(4): Show 
a0015c0316t0003g0227
a0098c0055t0009g0211
a0106c0164t0009g0224
a0107c0166t0009g0226
a0108c0165t0009g0225
a0109c0163t0009g0223
a0116c0171t0009g0200
 7 HG01109.hp2
HG01175.hp2
HG02559.hp1
others(4): Show 
HG01109.hp2
HG01175.hp2
HG02559.hp1
HG02559.hp2
HG03195.hp2
HG03486.hp2
HG03579.hp2
 intron_variant MODIFIER c.-45-1197C>T
c.-45-1197C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874495
chr8:143874636 G
G
 A
A
 1 a0001c0005t0004g0192
a0001c0005t0004g0192
 1 NA18960.hp2
NA18960.hp2
 intron_variant MODIFIER c.-45-1338C>T
c.-45-1338C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874636
chr8:143874693 T
T
 C
C
 261 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0093
others(258): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0191
a0001c0001t0001g0308
a0001c0005t0001g0180
a0001c0005t0001g0335
a0001c0005t0004g0192
a0001c0033t0001g0017
a0001c0035t0001g0179
a0001c0035t0004g0178
a0001c0259t0001g0314
a0002c0002t0001g0076
a0002c0296t0001g0215
a0002c0299t0005g0092
a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0030t0003g0010
a0003c0031t0003g0369
a0003c0031t0024g0368
a0004c0234t0005g0268
a0005c0004t0001g0004
a0005c0004t0001g0267
a0006c0003t0001g0385
a0008c0017t0002g0014
a0008c0021t0002g0015
a0009c0174t0014g0357
a0009c0178t0014g0350
a0009c0187t0014g0229
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0013c0014t0011g0021
a0014c0044t0002g0018
a0014c0280t0006g0379
a0015c0316t0003g0227
a0016c0312t0008g0189
a0017c0012t0001g0065
a0017c0012t0001g0066
a0017c0012t0001g0104
a0019c0245t0001g0210
a0021c0006t0002g0028
a0021c0006t0007g0037
a0022c0024t0002g0153
a0022c0024t0002g0169
a0022c0094t0006g0152
a0023c0095t0002g0294
a0023c0096t0002g0318
a0023c0102t0002g0342
a0024c0029t0001g0007
a0025c0161t0001g0196
a0025c0162t0001g0033
a0026c0185t0002g0354
a0026c0186t0002g0355
a0027c0042t0001g0035
a0027c0042t0004g0034
a0028c0039t0001g0198
a0028c0039t0004g0197
a0034c0261t0006g0183
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0038c0019t0002g0245
a0038c0019t0012g0163
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0042c0088t0002g0371
a0042c0092t0002g0377
a0043c0085t0026g0165
a0043c0089t0002g0042
a0044c0020t0002g0020
a0045c0027t0002g0363
a0045c0027t0006g0362
a0046c0026t0002g0302
a0046c0026t0002g0347
a0047c0025t0002g0024
a0048c0060t0001g0333
a0048c0072t0001g0159
a0049c0028t0002g0016
a0050c0346t0001g0306
a0051c0345t0002g0280
a0053c0144t0002g0349
a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
a0059c0152t0001g0274
a0060c0154t0001g0046
a0061c0157t0004g0237
a0062c0156t0004g0241
a0063c0159t0004g0059
a0064c0150t0001g0051
a0069c0151t0004g0052
a0070c0145t0001g0236
a0071c0347t0001g0063
a0072c0160t0009g0036
a0073c0339t0009g0039
a0074c0335t0002g0307
a0075c0199t0003g0340
a0076c0198t0003g0228
a0077c0175t0012g0358
a0078c0177t0003g0339
a0079c0342t0003g0338
a0080c0195t0003g0370
a0081c0194t0003g0100
a0082c0193t0003g0376
a0083c0188t0001g0366
a0084c0191t0012g0041
a0085c0190t0001g0348
a0086c0189t0001g0367
a0087c0192t0012g0359
a0088c0179t0001g0341
a0089c0183t0002g0352
a0090c0184t0007g0353
a0091c0180t0002g0374
a0092c0182t0013g0351
a0093c0176t0007g0106
a0094c0181t0007g0378
a0095c0196t0002g0356
a0096c0197t0002g0101
a0097c0330t0004g0273
a0098c0055t0009g0211
a0099c0054t0001g0103
a0100c0049t0010g0040
a0101c0168t0005g0238
a0102c0169t0001g0239
a0103c0170t0005g0240
a0105c0338t0007g0287
a0106c0164t0009g0224
a0107c0166t0009g0226
a0108c0165t0009g0225
a0109c0163t0009g0223
a0110c0046t0010g0071
a0111c0047t0010g0072
a0112c0045t0010g0070
a0113c0048t0010g0216
a0114c0173t0001g0064
a0115c0172t0001g0221
a0116c0171t0009g0200
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
a0124c0327t0005g0222
a0125c0200t0001g0289
a0128c0277t0022g0032
a0129c0311t0013g0373
a0130c0283t0006g0220
a0135c0300t0001g0187
a0140c0298t0001g0099
a0141c0301t0001g0188
a0143c0308t0001g0387
a0145c0309t0001g0062
a0148c0303t0001g0199
a0149c0294t0001g0061
a0150c0287t0001g0270
a0153c0279t0002g0375
a0154c0291t0002g0193
a0155c0292t0002g0186
a0156c0290t0002g0185
a0158c0289t0002g0281
a0161c0306t0005g0272
a0162c0284t0002g0096
a0163c0313t0002g0190
a0169c0217t0001g0233
a0172c0255t0001g0269
a0176c0227t0001g0029
a0185c0210t0001g0176
a0186c0344t0001g0275
a0187c0240t0001g0084
a0190c0251t0001g0182
a0195c0231t0001g0177
a0196c0246t0001g0181
a0197c0247t0001g0313
a0202c0218t0002g0091
a0203c0224t0005g0266
a0206c0221t0002g0265
a0207c0219t0006g0345
a0208c0220t0002g0312
a0209c0214t0010g0212
a0213c0270t0001g0235
a0216c0264t0002g0184
a0220c0274t0001g0250
a0230c0337t0002g0361
a0232c0057t0002g0154
a0233c0142t0002g0030
a0234c0065t0005g0291
a0235c0068t0002g0156
a0236c0067t0002g0155
a0237c0139t0001g0043
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0241c0079t0002g0089
a0242c0116t0003g0298
a0243c0115t0013g0297
a0244c0111t0002g0173
a0245c0110t0002g0172
a0246c0113t0002g0083
a0247c0112t0001g0296
a0249c0108t0001g0295
a0250c0114t0001g0319
a0251c0084t0005g0277
a0252c0107t0001g0171
a0253c0080t0007g0161
a0254c0081t0002g0162
a0255c0141t0002g0232
a0256c0082t0002g0164
a0257c0083t0002g0053
a0258c0106t0002g0170
a0259c0097t0002g0334
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0264c0099t0007g0168
a0265c0101t0025g0288
a0266c0098t0002g0090
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0271c0138t0001g0365
a0272c0091t0002g0167
a0273c0090t0007g0372
a0274c0135t0007g0364
a0275c0120t0002g0174
a0276c0133t0007g0322
a0277c0121t0002g0175
a0278c0074t0002g0195
a0279c0087t0002g0166
a0280c0134t0006g0044
a0281c0132t0002g0303
a0282c0140t0002g0305
a0283c0130t0002g0310
a0284c0131t0002g0311
a0285c0124t0007g0309
a0286c0061t0002g0315
a0287c0129t0002g0290
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0294c0119t0002g0321
a0295c0117t0002g0323
a0296c0118t0002g0320
a0297c0071t0001g0380
a0298c0070t0020g0158
a0299c0059t0001g0332
a0300c0073t0001g0160
a0301c0069t0001g0157
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 280 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(277): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00558.hp2
HG00597.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01070.hp1
HG01070.hp2
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02109.hp1
HG02129.hp2
HG02135.hp1
HG02145.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02300.hp2
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp2
HG02886.hp2
HG02895.hp1
HG02896.hp1
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03669.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18942.hp1
NA18943.hp2
NA18944.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18979.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp2
NA19004.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19043.hp2
NA19054.hp2
NA19057.hp1
NA19058.hp1
NA19064.hp1
NA19074.hp1
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19090.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-45-1395A>G
c.-45-1395A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874693
chr8:143874803 A
A
 T
T
 4 a0025c0161t0001g0196
a0025c0162t0001g0033
a0072c0160t0009g0036
others(1): Show 
a0025c0161t0001g0196
a0025c0162t0001g0033
a0072c0160t0009g0036
a0073c0339t0009g0039
 4 HG02109.hp1
HG02965.hp2
HG03041.hp2
others(1): Show 
HG02109.hp1
HG02965.hp2
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.-45-1505T>A
c.-45-1505T>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874803
chr8:143874845 C
C
 T
T
 1 a0173c0225t0005g0107
a0173c0225t0005g0107
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.-45-1547G>A
c.-45-1547G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874845
chr8:143874879 C
C
 T
T
 1 a0085c0190t0001g0348
a0085c0190t0001g0348
 1 HG00558.hp2
HG00558.hp2
 intron_variant MODIFIER c.-45-1581G>A
c.-45-1581G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874879
chr8:143874905 C
C
 G
G
 1 a0014c0044t0002g0018
a0014c0044t0002g0018
 2 HG01070.hp1
HG01071.hp2
HG01070.hp1
HG01071.hp2
 intron_variant MODIFIER c.-45-1607G>C
c.-45-1607G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874905
chr8:143874907 A
A
 G
G
 1 a0231c0343t0001g0256
a0231c0343t0001g0256
 1 NA18949.hp2
NA18949.hp2
 intron_variant MODIFIER c.-45-1609T>C
c.-45-1609T>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874907
chr8:143874909 C
C
 G
G
 38 a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0031t0003g0369
others(35): Show 
a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0031t0003g0369
a0003c0031t0024g0368
a0009c0174t0014g0357
a0009c0178t0014g0350
a0009c0187t0014g0229
a0023c0096t0002g0318
a0026c0185t0002g0354
a0026c0186t0002g0355
a0053c0144t0002g0349
a0064c0150t0001g0051
a0069c0151t0004g0052
a0075c0199t0003g0340
a0076c0198t0003g0228
a0077c0175t0012g0358
a0078c0177t0003g0339
a0079c0342t0003g0338
a0080c0195t0003g0370
a0082c0193t0003g0376
a0083c0188t0001g0366
a0084c0191t0012g0041
a0085c0190t0001g0348
a0086c0189t0001g0367
a0087c0192t0012g0359
a0088c0179t0001g0341
a0089c0183t0002g0352
a0090c0184t0007g0353
a0091c0180t0002g0374
a0092c0182t0013g0351
a0093c0176t0007g0106
a0094c0181t0007g0378
a0095c0196t0002g0356
a0146c0302t0001g0105
a0157c0278t0002g0067
a0162c0284t0002g0096
a0230c0337t0002g0361
a0287c0129t0002g0290
 39 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(36): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00558.hp2
HG00597.hp1
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG02004.hp1
HG02056.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03654.hp1
HG03688.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG04228.hp2
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19084.hp2
NA20905.hp1
NA21309.hp2
 intron_variant MODIFIER c.-45-1611G>C
c.-45-1611G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143874909
chr8:143875120 G
G
 A
A
 2 a0145c0309t0001g0062
a0161c0306t0005g0272
a0145c0309t0001g0062
a0161c0306t0005g0272
 2 HG02622.hp2
HG03209.hp2
HG02622.hp2
HG03209.hp2
 intron_variant MODIFIER c.-45-1822C>T
c.-45-1822C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875120
chr8:143875173 G
G
 A
A
 1 a0057c0153t0001g0049
a0057c0153t0001g0049
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.-45-1875C>T
c.-45-1875C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875173
chr8:143875440 C
C
 T
T
 1 a0020c0032t0008g0098
a0020c0032t0008g0098
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.-45-2142G>A
c.-45-2142G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875440
chr8:143875524 G
G
 C
C
 1 a0260c0103t0002g0282
a0260c0103t0002g0282
 1 NA18983.hp2
NA18983.hp2
 intron_variant MODIFIER c.-45-2226C>G
c.-45-2226C>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875524
chr8:143875569 G
G
 A
A
 1 a0223c0325t0016g0194
a0223c0325t0016g0194
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.-45-2271C>T
c.-45-2271C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875569
chr8:143875604 C
C
 T
T
 1 a0023c0096t0002g0318
a0023c0096t0002g0318
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.-45-2306G>A
c.-45-2306G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875604
chr8:143875647 G
G
 A
A
 1 a0233c0142t0002g0030
a0233c0142t0002g0030
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-45-2349C>T
c.-45-2349C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875647
chr8:143875662 C
C
 T
T
 80 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0308
others(77): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0308
a0001c0259t0001g0314
a0006c0003t0001g0385
a0013c0014t0011g0021
a0017c0012t0001g0065
a0017c0012t0001g0066
a0017c0012t0001g0104
a0021c0006t0002g0028
a0021c0006t0007g0037
a0023c0095t0002g0294
a0023c0102t0002g0342
a0028c0039t0001g0198
a0028c0039t0004g0197
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0046c0026t0002g0302
a0046c0026t0002g0347
a0047c0025t0002g0024
a0050c0346t0001g0306
a0051c0345t0002g0280
a0074c0335t0002g0307
a0105c0338t0007g0287
a0148c0303t0001g0199
a0158c0289t0002g0281
a0180c0243t0001g0382
a0186c0344t0001g0275
a0187c0240t0001g0084
a0197c0247t0001g0313
a0207c0219t0006g0345
a0208c0220t0002g0312
a0233c0142t0002g0030
a0234c0065t0005g0291
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0242c0116t0003g0298
a0243c0115t0013g0297
a0246c0113t0002g0083
a0247c0112t0001g0296
a0249c0108t0001g0295
a0250c0114t0001g0319
a0251c0084t0005g0277
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0265c0101t0025g0288
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0276c0133t0007g0322
a0281c0132t0002g0303
a0282c0140t0002g0305
a0283c0130t0002g0310
a0284c0131t0002g0311
a0285c0124t0007g0309
a0286c0061t0002g0315
a0287c0129t0002g0290
a0288c0086t0002g0381
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0294c0119t0002g0321
a0295c0117t0002g0323
a0296c0118t0002g0320
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 88 HG00408.hp2
HG00597.hp1
HG00609.hp1
others(85): Show 
HG00408.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01168.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02155.hp2
HG02165.hp1
HG02523.hp2
HG02602.hp1
HG02738.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18747.hp2
NA18942.hp1
NA18947.hp1
NA18947.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18975.hp2
NA18977.hp2
NA18978.hp1
NA18982.hp1
NA18983.hp2
NA18986.hp2
NA18990.hp1
NA18991.hp2
NA18994.hp2
NA18995.hp1
NA18995.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19057.hp1
NA19064.hp1
NA19065.hp1
NA19074.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19085.hp1
NA19085.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20905.hp2
 intron_variant MODIFIER c.-45-2364G>A
c.-45-2364G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875662
chr8:143875687 T
T
 C
C
 2 a0118c0052t0001g0206
a0119c0053t0004g0207
a0118c0052t0001g0206
a0119c0053t0004g0207
 2 HG02145.hp1
HG02922.hp1
HG02145.hp1
HG02922.hp1
 intron_variant MODIFIER c.-45-2389A>G
c.-45-2389A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875687
chr8:143875767 T
T
 C
C
 2 a0024c0029t0001g0007
a0063c0159t0004g0059
a0024c0029t0001g0007
a0063c0159t0004g0059
 3 HG02809.hp1
HG03453.hp1
HG03579.hp1
HG02809.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.-45-2469A>G
c.-45-2469A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875767
chr8:143875775 A
A
 G
G
 1 a0297c0071t0001g0380
a0297c0071t0001g0380
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.-45-2477T>C
c.-45-2477T>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875775
chr8:143875886 G
G
 A
A
 1 a0178c0211t0001g0271
a0178c0211t0001g0271
 1 HG03704.hp2
HG03704.hp2
 intron_variant MODIFIER c.-46+2552C>T
c.-46+2552C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875886
chr8:143875940 GC
GC
 G
G
 74 a0002c0296t0001g0215
a0003c0008t0003g0027
a0003c0008t0003g0360
others(71): Show 
a0002c0296t0001g0215
a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0030t0003g0010
a0003c0031t0003g0369
a0003c0031t0024g0368
a0009c0174t0014g0357
a0009c0178t0014g0350
a0009c0187t0014g0229
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0011c0007t0001g0005
a0014c0280t0006g0379
a0023c0096t0002g0318
a0025c0161t0001g0196
a0025c0162t0001g0033
a0026c0185t0002g0354
a0026c0186t0002g0355
a0053c0144t0002g0349
a0054c0340t0027g0045
a0055c0341t0016g0255
a0064c0150t0001g0051
a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
a0068c0146t0003g0213
a0069c0151t0004g0052
a0072c0160t0009g0036
a0073c0339t0009g0039
a0075c0199t0003g0340
a0076c0198t0003g0228
a0077c0175t0012g0358
a0078c0177t0003g0339
a0079c0342t0003g0338
a0080c0195t0003g0370
a0081c0194t0003g0100
a0082c0193t0003g0376
a0083c0188t0001g0366
a0084c0191t0012g0041
a0085c0190t0001g0348
a0086c0189t0001g0367
a0087c0192t0012g0359
a0088c0179t0001g0341
a0089c0183t0002g0352
a0090c0184t0007g0353
a0091c0180t0002g0374
a0092c0182t0013g0351
a0094c0181t0007g0378
a0095c0196t0002g0356
a0096c0197t0002g0101
a0098c0055t0009g0211
a0099c0054t0001g0103
a0100c0049t0010g0040
a0115c0172t0001g0221
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
a0124c0327t0005g0222
a0128c0277t0022g0032
a0129c0311t0013g0373
a0130c0283t0006g0220
a0131c0285t0001g0214
a0153c0279t0002g0375
a0209c0214t0010g0212
a0220c0274t0001g0250
a0223c0325t0016g0194
a0224c0204t0005g0073
a0230c0337t0002g0361
a0297c0071t0001g0380
 78 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(75): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01192.hp2
HG01243.hp2
HG01257.hp1
HG01346.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG02004.hp1
HG02109.hp1
HG02145.hp1
HG02145.hp2
HG02300.hp1
HG02572.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03139.hp1
HG03225.hp1
HG03453.hp2
HG03471.hp1
HG03688.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19084.hp2
NA19240.hp1
NA20300.hp2
NA20752.hp2
NA20805.hp1
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-46+2497delG
c.-46+2497delG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875940
chr8:143875944 C
C
 A
A
 1 a0280c0134t0006g0044
a0280c0134t0006g0044
 1 HG01515.hp1
HG01515.hp1
 intron_variant MODIFIER c.-46+2494G>T
c.-46+2494G>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875944
chr8:143875957 C
C
 A
A
 1 a0165c0207t0002g0336
a0165c0207t0002g0336
 1 HG02129.hp1
HG02129.hp1
 intron_variant MODIFIER c.-46+2481G>T
c.-46+2481G>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143875957
chr8:143876052 C
C
 T
T
 8 a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
others(5): Show 
a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
a0059c0152t0001g0274
a0060c0154t0001g0046
a0061c0157t0004g0237
a0062c0156t0004g0241
a0070c0145t0001g0236
 8 HG02280.hp2
HG02630.hp2
HG02818.hp2
others(5): Show 
HG02280.hp2
HG02630.hp2
HG02818.hp2
HG03098.hp2
HG03139.hp2
HG03225.hp2
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.-46+2386G>A
c.-46+2386G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876052
chr8:143876067 A
A
 G
G
 1 a0152c0293t0001g0102
a0152c0293t0001g0102
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.-46+2371T>C
c.-46+2371T>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876067
chr8:143876107 C
C
 T
T
 2 a0124c0327t0005g0222
a0128c0277t0022g0032
a0124c0327t0005g0222
a0128c0277t0022g0032
 2 HG02572.hp1
HG02896.hp1
HG02572.hp1
HG02896.hp1
 intron_variant MODIFIER c.-46+2331G>A
c.-46+2331G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876107
chr8:143876108 A
A
 G
G
 21 a0002c0296t0001g0215
a0011c0007t0001g0005
a0014c0280t0006g0379
others(18): Show 
a0002c0296t0001g0215
a0011c0007t0001g0005
a0014c0280t0006g0379
a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
a0115c0172t0001g0221
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
a0124c0327t0005g0222
a0128c0277t0022g0032
a0129c0311t0013g0373
a0130c0283t0006g0220
a0131c0285t0001g0214
a0153c0279t0002g0375
a0209c0214t0010g0212
a0220c0274t0001g0250
a0223c0325t0016g0194
a0297c0071t0001g0380
 23 HG01099.hp2
HG01106.hp2
HG01243.hp2
others(20): Show 
HG01099.hp2
HG01106.hp2
HG01243.hp2
HG01884.hp2
HG02145.hp2
HG02572.hp1
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03130.hp1
HG03139.hp1
HG03471.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA19030.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-46+2330T>C
c.-46+2330T>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876108
chr8:143876160 C
C
 T
T
 1 a0079c0342t0003g0338
a0079c0342t0003g0338
 1 NA18974.hp1
NA18974.hp1
 intron_variant MODIFIER c.-46+2278G>A
c.-46+2278G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876160
chr8:143876177 G
G
 A
A
 2 a0154c0291t0002g0193
a0265c0101t0025g0288
a0154c0291t0002g0193
a0265c0101t0025g0288
 2 NA18943.hp2
NA18978.hp1
NA18943.hp2
NA18978.hp1
 intron_variant MODIFIER c.-46+2261C>T
c.-46+2261C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876177
chr8:143876443 G
G
 A
A
 1 a0098c0055t0009g0211
a0098c0055t0009g0211
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.-46+1995C>T
c.-46+1995C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876443
chr8:143876445 G
G
 GGTGGCTA
others(15): Show 
GGTGGCTACGGGGCTGTCCAGAT
 1 a0226c0326t0005g0050
a0226c0326t0005g0050
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-46+1971_-46+1992d
others(24): Show 
c.-46+1971_-46+1992dupATCTGGACAGCCCCGTAGCCAC
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876445
chr8:143876454 G
G
 A
A
 6 a0011c0007t0001g0005
a0120c0332t0003g0252
a0121c0333t0004g0253
others(3): Show 
a0011c0007t0001g0005
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
a0220c0274t0001g0250
 8 HG02630.hp1
HG02647.hp2
HG02717.hp2
others(5): Show 
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02886.hp1
HG02965.hp1
HG02970.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.-46+1984C>T
c.-46+1984C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876454
chr8:143876480 G
G
 T
T
 10 a0009c0178t0014g0350
a0009c0187t0014g0229
a0026c0185t0002g0354
others(7): Show 
a0009c0178t0014g0350
a0009c0187t0014g0229
a0026c0185t0002g0354
a0026c0186t0002g0355
a0053c0144t0002g0349
a0085c0190t0001g0348
a0089c0183t0002g0352
a0090c0184t0007g0353
a0092c0182t0013g0351
a0095c0196t0002g0356
 10 HG00423.hp1
HG00558.hp2
HG01346.hp1
others(7): Show 
HG00423.hp1
HG00558.hp2
HG01346.hp1
HG01952.hp2
HG02004.hp1
HG02698.hp2
HG03017.hp1
HG04115.hp2
HG04204.hp1
NA18953.hp1
 intron_variant MODIFIER c.-46+1958C>A
c.-46+1958C>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876480
chr8:143876516 C
C
 T
T
 3 a0061c0157t0004g0237
a0062c0156t0004g0241
a0070c0145t0001g0236
a0061c0157t0004g0237
a0062c0156t0004g0241
a0070c0145t0001g0236
 3 HG02280.hp2
HG02630.hp2
HG03471.hp2
HG02280.hp2
HG02630.hp2
HG03471.hp2
 intron_variant MODIFIER c.-46+1922G>A
c.-46+1922G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876516
chr8:143876547 T
T
 C
C
 14 a0002c0296t0001g0215
a0014c0280t0006g0379
a0065c0149t0002g0219
others(11): Show 
a0002c0296t0001g0215
a0014c0280t0006g0379
a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
a0129c0311t0013g0373
a0130c0283t0006g0220
a0131c0285t0001g0214
a0145c0309t0001g0062
a0153c0279t0002g0375
a0161c0306t0005g0272
a0209c0214t0010g0212
a0223c0325t0016g0194
a0297c0071t0001g0380
 14 HG01099.hp2
HG01106.hp2
HG01243.hp2
others(11): Show 
HG01099.hp2
HG01106.hp2
HG01243.hp2
HG01884.hp2
HG02145.hp2
HG02622.hp2
HG02735.hp2
HG03139.hp1
HG03209.hp2
HG03471.hp1
NA18522.hp1
NA19030.hp1
NA19240.hp1
NA20805.hp1
 intron_variant MODIFIER c.-46+1891A>G
c.-46+1891A>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876547
chr8:143876552 C
C
 T
T
 40 a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0030t0003g0010
others(37): Show 
a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0030t0003g0010
a0003c0031t0003g0369
a0003c0031t0024g0368
a0009c0174t0014g0357
a0009c0178t0014g0350
a0009c0187t0014g0229
a0023c0096t0002g0318
a0023c0102t0002g0342
a0026c0185t0002g0354
a0026c0186t0002g0355
a0042c0088t0002g0371
a0053c0144t0002g0349
a0055c0341t0016g0255
a0064c0150t0001g0051
a0069c0151t0004g0052
a0075c0199t0003g0340
a0076c0198t0003g0228
a0077c0175t0012g0358
a0078c0177t0003g0339
a0079c0342t0003g0338
a0080c0195t0003g0370
a0081c0194t0003g0100
a0082c0193t0003g0376
a0083c0188t0001g0366
a0084c0191t0012g0041
a0085c0190t0001g0348
a0086c0189t0001g0367
a0087c0192t0012g0359
a0088c0179t0001g0341
a0089c0183t0002g0352
a0090c0184t0007g0353
a0091c0180t0002g0374
a0092c0182t0013g0351
a0094c0181t0007g0378
a0095c0196t0002g0356
a0096c0197t0002g0101
a0230c0337t0002g0361
a0273c0090t0007g0372
 42 HG00140.hp1
HG00323.hp1
HG00423.hp1
others(39): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp2
HG01099.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01952.hp2
HG02004.hp1
HG02683.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp1
HG03017.hp1
HG03017.hp2
HG03225.hp1
HG03688.hp1
HG03688.hp2
HG04115.hp2
HG04184.hp2
HG04199.hp1
HG04204.hp1
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19030.hp2
NA19084.hp2
NA20752.hp2
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-46+1886G>A
c.-46+1886G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876552
chr8:143876684 G
G
 A
A
 1 a0278c0074t0002g0195
a0278c0074t0002g0195
 1 HG01106.hp1
HG01106.hp1
 intron_variant MODIFIER c.-46+1754C>T
c.-46+1754C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876684
chr8:143876845 G
G
 C
C
 6 a0025c0161t0001g0196
a0025c0162t0001g0033
a0054c0340t0027g0045
others(3): Show 
a0025c0161t0001g0196
a0025c0162t0001g0033
a0054c0340t0027g0045
a0072c0160t0009g0036
a0073c0339t0009g0039
a0224c0204t0005g0073
 6 HG01884.hp1
HG02109.hp1
HG02300.hp1
others(3): Show 
HG01884.hp1
HG02109.hp1
HG02300.hp1
HG02965.hp2
HG03041.hp2
NA19043.hp2
 intron_variant MODIFIER c.-46+1593C>G
c.-46+1593C>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876845
chr8:143876884 G
G
 A
A
 5 a0013c0014t0011g0021
a0028c0039t0001g0198
a0028c0039t0004g0197
others(2): Show 
a0013c0014t0011g0021
a0028c0039t0001g0198
a0028c0039t0004g0197
a0148c0303t0001g0199
a0286c0061t0002g0315
 6 HG02155.hp2
NA18947.hp1
NA18971.hp2
others(3): Show 
HG02155.hp2
NA18947.hp1
NA18971.hp2
NA18977.hp2
NA18995.hp2
NA19085.hp1
 intron_variant MODIFIER c.-46+1554C>T
c.-46+1554C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876884
chr8:143876890 G
G
 A
A
 3 a0001c0001t0001g0095
a0177c0228t0005g0031
a0182c0232t0001g0094
a0001c0001t0001g0095
a0177c0228t0005g0031
a0182c0232t0001g0094
 3 NA18974.hp2
NA18990.hp2
NA19005.hp1
NA18974.hp2
NA18990.hp2
NA19005.hp1
 intron_variant MODIFIER c.-46+1548C>T
c.-46+1548C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876890
chr8:143876943 G
G
 A
A
 1 a0037c0075t0002g0316
a0037c0075t0002g0316
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.-46+1495C>T
c.-46+1495C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143876943
chr8:143877056 G
G
 A
A
 10 a0027c0042t0001g0035
a0027c0042t0004g0034
a0029c0040t0001g0060
others(7): Show 
a0027c0042t0001g0035
a0027c0042t0004g0034
a0029c0040t0001g0060
a0029c0040t0004g0056
a0097c0330t0004g0273
a0125c0200t0001g0289
a0132c0286t0004g0054
a0140c0298t0001g0099
a0147c0304t0001g0055
a0149c0294t0001g0061
 10 HG02258.hp2
HG02280.hp1
HG02486.hp2
others(7): Show 
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp2
HG02622.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG03041.hp1
 intron_variant MODIFIER c.-46+1382C>T
c.-46+1382C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877056
chr8:143877134 C
C
 T
T
 1 a0010c0015t0001g0202
a0010c0015t0001g0202
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.-46+1304G>A
c.-46+1304G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877134
chr8:143877154 T
T
 A
A
 6 a0002c0002t0001g0074
a0002c0002t0001g0076
a0114c0173t0001g0064
others(3): Show 
a0002c0002t0001g0074
a0002c0002t0001g0076
a0114c0173t0001g0064
a0133c0310t0003g0075
a0143c0308t0001g0387
a0194c0230t0021g0057
 6 HG02109.hp2
HG02257.hp2
HG02976.hp1
others(3): Show 
HG02109.hp2
HG02257.hp2
HG02976.hp1
HG03209.hp1
NA18522.hp2
NA20129.hp2
 intron_variant MODIFIER c.-46+1284A>T
c.-46+1284A>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877154
chr8:143877224 C
C
 G
G
 11 a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
others(8): Show 
a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
a0059c0152t0001g0274
a0060c0154t0001g0046
a0061c0157t0004g0237
a0062c0156t0004g0241
a0064c0150t0001g0051
a0069c0151t0004g0052
a0070c0145t0001g0236
a0115c0172t0001g0221
 11 HG02280.hp2
HG02630.hp2
HG02723.hp1
others(8): Show 
HG02280.hp2
HG02630.hp2
HG02723.hp1
HG02818.hp2
HG03098.hp2
HG03130.hp1
HG03139.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp2
HG03486.hp1
 intron_variant MODIFIER c.-46+1214G>C
c.-46+1214G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877224
chr8:143877326 C
C
 T
T
 4 a0029c0040t0001g0060
a0125c0200t0001g0289
a0140c0298t0001g0099
others(1): Show 
a0029c0040t0001g0060
a0125c0200t0001g0289
a0140c0298t0001g0099
a0149c0294t0001g0061
 4 HG02486.hp2
HG02572.hp2
HG02622.hp1
others(1): Show 
HG02486.hp2
HG02572.hp2
HG02622.hp1
HG02809.hp2
 intron_variant MODIFIER c.-46+1112G>A
c.-46+1112G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877326
chr8:143877330 G
G
 T
T
 3 a0027c0042t0001g0035
a0027c0042t0004g0034
a0097c0330t0004g0273
a0027c0042t0001g0035
a0027c0042t0004g0034
a0097c0330t0004g0273
 3 HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02258.hp2
HG02895.hp1
HG02896.hp2
 intron_variant MODIFIER c.-46+1108C>A
c.-46+1108C>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877330
chr8:143877388 A
A
 G
G
 10 a0027c0042t0001g0035
a0027c0042t0004g0034
a0029c0040t0001g0060
others(7): Show 
a0027c0042t0001g0035
a0027c0042t0004g0034
a0029c0040t0001g0060
a0029c0040t0004g0056
a0097c0330t0004g0273
a0125c0200t0001g0289
a0132c0286t0004g0054
a0140c0298t0001g0099
a0147c0304t0001g0055
a0149c0294t0001g0061
 10 HG02258.hp2
HG02280.hp1
HG02486.hp2
others(7): Show 
HG02258.hp2
HG02280.hp1
HG02486.hp2
HG02572.hp2
HG02622.hp1
HG02809.hp2
HG02895.hp1
HG02895.hp2
HG02896.hp2
HG03041.hp1
 intron_variant MODIFIER c.-46+1050T>C
c.-46+1050T>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877388
chr8:143877398 G
G
 A
A
 1 a0062c0156t0004g0241
a0062c0156t0004g0241
 1 HG02630.hp2
HG02630.hp2
 intron_variant MODIFIER c.-46+1040C>T
c.-46+1040C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877398
chr8:143877433 C
C
 G
G
 1 a0017c0012t0001g0065
a0017c0012t0001g0065
 1 NA19088.hp2
NA19088.hp2
 intron_variant MODIFIER c.-46+1005G>C
c.-46+1005G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877433
chr8:143877449 G
G
 A
A
 7 a0015c0316t0003g0227
a0106c0164t0009g0224
a0107c0166t0009g0226
others(4): Show 
a0015c0316t0003g0227
a0106c0164t0009g0224
a0107c0166t0009g0226
a0108c0165t0009g0225
a0109c0163t0009g0223
a0116c0171t0009g0200
a0124c0327t0005g0222
 7 HG01175.hp2
HG02559.hp1
HG02559.hp2
others(4): Show 
HG01175.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG03195.hp2
HG03486.hp2
HG03579.hp2
 intron_variant MODIFIER c.-46+989C>T
c.-46+989C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877449
chr8:143877601 C
C
 T
T
 1 a0020c0032t0008g0098
a0020c0032t0008g0098
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.-46+837G>A
c.-46+837G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877601
chr8:143877602 G
G
 A
A
 5 a0105c0338t0007g0287
a0261c0105t0002g0286
a0262c0104t0002g0285
others(2): Show 
a0105c0338t0007g0287
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0265c0101t0025g0288
 5 NA18978.hp1
NA18990.hp1
NA18991.hp2
others(2): Show 
NA18978.hp1
NA18990.hp1
NA18991.hp2
NA19011.hp2
NA19089.hp1
 intron_variant MODIFIER c.-46+836C>T
c.-46+836C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877602
chr8:143877810 G
G
 C
C
 1 a0039c0023t0007g0346
a0039c0023t0007g0346
 1 HG04184.hp1
HG04184.hp1
 intron_variant MODIFIER c.-46+628C>G
c.-46+628C>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877810
chr8:143877814 C
C
 G
G
 3 a0027c0042t0001g0035
a0027c0042t0004g0034
a0097c0330t0004g0273
a0027c0042t0001g0035
a0027c0042t0004g0034
a0097c0330t0004g0273
 3 HG02258.hp2
HG02895.hp1
HG02896.hp2
HG02258.hp2
HG02895.hp1
HG02896.hp2
 intron_variant MODIFIER c.-46+624G>C
c.-46+624G>C
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877814
chr8:143877873 C
C
 T
T
 13 a0002c0296t0001g0215
a0011c0007t0001g0005
a0014c0280t0006g0379
others(10): Show 
a0002c0296t0001g0215
a0011c0007t0001g0005
a0014c0280t0006g0379
a0120c0332t0003g0252
a0121c0333t0004g0253
a0122c0334t0003g0254
a0123c0331t0004g0251
a0128c0277t0022g0032
a0129c0311t0013g0373
a0131c0285t0001g0214
a0153c0279t0002g0375
a0209c0214t0010g0212
a0220c0274t0001g0250
 15 HG01106.hp2
HG01243.hp2
HG01884.hp2
others(12): Show 
HG01106.hp2
HG01243.hp2
HG01884.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp2
HG02735.hp2
HG02886.hp1
HG02896.hp1
HG02965.hp1
HG02970.hp1
HG03139.hp1
NA18522.hp1
NA18906.hp1
NA18906.hp2
 intron_variant MODIFIER c.-46+565G>A
c.-46+565G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877873
chr8:143877940 C
C
 T
T
 1 a0091c0180t0002g0374
a0091c0180t0002g0374
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.-46+498G>A
c.-46+498G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143877940
chr8:143878085 C
C
 T
T
 89 a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0093
others(86): Show 
a0001c0001t0001g0008
a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0308
a0001c0010t0001g0009
a0001c0259t0001g0314
a0002c0299t0005g0092
a0020c0032t0015g0087
a0021c0006t0002g0028
a0021c0006t0007g0037
a0023c0095t0002g0294
a0023c0102t0002g0342
a0030c0257t0002g0243
a0030c0258t0002g0244
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0038c0019t0002g0245
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0046c0026t0002g0302
a0047c0025t0002g0024
a0050c0346t0001g0306
a0051c0345t0002g0280
a0052c0056t0018g0283
a0071c0347t0001g0063
a0074c0335t0002g0307
a0075c0199t0003g0340
a0076c0198t0003g0228
a0078c0177t0003g0339
a0079c0342t0003g0338
a0088c0179t0001g0341
a0105c0338t0007g0287
a0114c0173t0001g0064
a0134c0305t0001g0088
a0158c0289t0002g0281
a0171c0253t0001g0085
a0177c0228t0005g0031
a0180c0243t0001g0382
a0182c0232t0001g0094
a0186c0344t0001g0275
a0187c0240t0001g0084
a0189c0208t0001g0086
a0197c0247t0001g0313
a0202c0218t0002g0091
a0207c0219t0006g0345
a0208c0220t0002g0312
a0234c0065t0005g0291
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0241c0079t0002g0089
a0242c0116t0003g0298
a0243c0115t0013g0297
a0246c0113t0002g0083
a0247c0112t0001g0296
a0249c0108t0001g0295
a0251c0084t0005g0277
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0265c0101t0025g0288
a0266c0098t0002g0090
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0281c0132t0002g0303
a0282c0140t0002g0305
a0283c0130t0002g0310
a0284c0131t0002g0311
a0285c0124t0007g0309
a0286c0061t0002g0315
a0287c0129t0002g0290
a0288c0086t0002g0381
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 97 HG00408.hp2
HG00544.hp1
HG00597.hp1
others(94): Show 
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01168.hp1
HG01934.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02165.hp1
HG02165.hp2
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03669.hp2
HG03688.hp1
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18747.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp2
NA18978.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18994.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 intron_variant MODIFIER c.-46+353G>A
c.-46+353G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878085
chr8:143878091 A
A
 C
C
 100 a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
others(97): Show 
a0001c0001t0001g0008
a0001c0001t0001g0019
a0001c0001t0001g0025
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0308
a0001c0010t0001g0009
a0001c0259t0001g0314
a0002c0299t0005g0092
a0015c0041t0013g0097
a0016c0319t0008g0249
a0020c0032t0015g0087
a0021c0006t0002g0028
a0021c0006t0007g0037
a0023c0095t0002g0294
a0023c0102t0002g0342
a0030c0257t0002g0243
a0030c0258t0002g0244
a0036c0016t0001g0022
a0037c0075t0002g0316
a0037c0143t0002g0384
a0038c0019t0002g0245
a0039c0023t0002g0278
a0039c0023t0007g0346
a0040c0018t0002g0026
a0041c0022t0002g0023
a0046c0026t0002g0302
a0046c0026t0002g0347
a0047c0025t0002g0024
a0050c0346t0001g0306
a0051c0345t0002g0280
a0052c0056t0018g0283
a0071c0347t0001g0063
a0074c0335t0002g0307
a0075c0199t0003g0340
a0076c0198t0003g0228
a0078c0177t0003g0339
a0079c0342t0003g0338
a0088c0179t0001g0341
a0105c0338t0007g0287
a0114c0173t0001g0064
a0134c0305t0001g0088
a0158c0289t0002g0281
a0162c0284t0002g0096
a0171c0253t0001g0085
a0177c0228t0005g0031
a0180c0243t0001g0382
a0182c0232t0001g0094
a0186c0344t0001g0275
a0187c0240t0001g0084
a0188c0241t0001g0246
a0189c0208t0001g0086
a0197c0247t0001g0313
a0200c0250t0001g0317
a0202c0218t0002g0091
a0207c0219t0006g0345
a0208c0220t0002g0312
a0212c0271t0004g0247
a0213c0270t0001g0235
a0214c0272t0001g0248
a0233c0142t0002g0030
a0234c0065t0005g0291
a0238c0077t0002g0293
a0239c0076t0002g0292
a0240c0078t0002g0038
a0241c0079t0002g0089
a0242c0116t0003g0298
a0243c0115t0013g0297
a0246c0113t0002g0083
a0247c0112t0001g0296
a0249c0108t0001g0295
a0251c0084t0005g0277
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0265c0101t0025g0288
a0266c0098t0002g0090
a0267c0137t0003g0304
a0268c0122t0002g0299
a0269c0123t0002g0337
a0270c0093t0001g0343
a0281c0132t0002g0303
a0282c0140t0002g0305
a0283c0130t0002g0310
a0284c0131t0002g0311
a0285c0124t0007g0309
a0286c0061t0002g0315
a0287c0129t0002g0290
a0288c0086t0002g0381
a0289c0126t0002g0300
a0290c0128t0001g0301
a0291c0127t0002g0242
a0292c0125t0002g0279
a0293c0136t0002g0344
a0302c0066t0002g0383
a0303c0062t0006g0081
a0304c0064t0006g0276
a0305c0063t0006g0082
a0306c0058t0002g0234
 109 HG00408.hp2
HG00544.hp1
HG00597.hp1
others(106): Show 
HG00408.hp2
HG00544.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01168.hp1
HG01934.hp1
HG02027.hp1
HG02071.hp1
HG02074.hp1
HG02132.hp1
HG02165.hp1
HG02165.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02738.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03516.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
HG04184.hp2
HG04204.hp2
NA18747.hp2
NA18944.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp2
NA18954.hp1
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18963.hp2
NA18968.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18972.hp1
NA18974.hp1
NA18974.hp2
NA18975.hp2
NA18978.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp2
NA18986.hp1
NA18986.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp2
NA18993.hp1
NA18994.hp2
NA18995.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19012.hp1
NA19054.hp2
NA19064.hp1
NA19065.hp1
NA19065.hp2
NA19074.hp2
NA19076.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp2
NA19082.hp1
NA19084.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp1
NA19089.hp1
NA19089.hp2
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.-46+347T>G
c.-46+347T>G
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878091
chr8:143878203 ACTCGGAG
ACTCGGAG
 A
A
 8 a0003c0008t0003g0027
a0003c0031t0003g0369
a0003c0031t0024g0368
others(5): Show 
a0003c0008t0003g0027
a0003c0031t0003g0369
a0003c0031t0024g0368
a0042c0088t0002g0371
a0080c0195t0003g0370
a0083c0188t0001g0366
a0086c0189t0001g0367
a0273c0090t0007g0372
 9 HG00733.hp1
HG01099.hp1
HG01192.hp2
others(6): Show 
HG00733.hp1
HG01099.hp1
HG01192.hp2
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG04199.hp1
NA21309.hp2
 intron_variant MODIFIER c.-46+228_-46+234del
others(7): Show 
c.-46+228_-46+234delCTCCGAG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878203
chr8:143878219 G
G
 T
T
 4 a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
others(1): Show 
a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
a0113c0048t0010g0216
 4 HG02145.hp2
HG03130.hp2
HG03471.hp1
others(1): Show 
HG02145.hp2
HG03130.hp2
HG03471.hp1
NA19240.hp1
 intron_variant MODIFIER c.-46+219C>A
c.-46+219C>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878219
chr8:143878343 G
G
 A
A
 4 a0014c0044t0002g0018
a0138c0282t0001g0201
a0144c0307t0001g0058
others(1): Show 
a0014c0044t0002g0018
a0138c0282t0001g0201
a0144c0307t0001g0058
a0145c0309t0001g0062
 5 HG00733.hp2
HG01070.hp1
HG01071.hp2
others(2): Show 
HG00733.hp2
HG01070.hp1
HG01071.hp2
HG03209.hp2
NA19240.hp2
 intron_variant MODIFIER c.-46+95C>T
c.-46+95C>T
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878343
chr8:143878350 G
G
 GCCCGCA
GCCCGCA
 14 a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
others(11): Show 
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0019c0038t0001g0209
a0019c0245t0001g0210
a0054c0340t0027g0045
a0064c0150t0001g0051
a0069c0151t0004g0052
a0097c0330t0004g0273
a0098c0055t0009g0211
a0104c0167t0001g0208
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
 14 HG01109.hp2
HG01884.hp1
HG02145.hp1
others(11): Show 
HG01109.hp2
HG01884.hp1
HG02145.hp1
HG02257.hp1
HG02258.hp2
HG02647.hp1
HG02723.hp1
HG02886.hp2
HG02922.hp1
HG02976.hp2
HG03225.hp1
HG03453.hp2
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.-46+82_-46+87dupTG
others(4): Show 
c.-46+82_-46+87dupTGCGGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878350
chr8:143878354 G
G
 T
T
 4 a0033c0268t0006g0077
a0035c0043t0011g0079
a0142c0295t0001g0078
others(1): Show 
a0033c0268t0006g0077
a0035c0043t0011g0079
a0142c0295t0001g0078
a0229c0336t0011g0080
 4 HG02027.hp2
NA18959.hp1
NA18997.hp1
others(1): Show 
HG02027.hp2
NA18959.hp1
NA18997.hp1
NA19055.hp1
 intron_variant MODIFIER c.-46+84C>A
c.-46+84C>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878354
chr8:143878356 A
A
 ACCCGCAC
others(12): Show 
ACCCGCACCCGCCGCACCTG
 8 a0061c0157t0004g0237
a0062c0156t0004g0241
a0070c0145t0001g0236
others(5): Show 
a0061c0157t0004g0237
a0062c0156t0004g0241
a0070c0145t0001g0236
a0101c0168t0005g0238
a0102c0169t0001g0239
a0103c0170t0005g0240
a0213c0270t0001g0235
a0306c0058t0002g0234
 8 HG01192.hp1
HG01975.hp1
HG02055.hp2
others(5): Show 
HG01192.hp1
HG01975.hp1
HG02055.hp2
HG02280.hp2
HG02630.hp2
HG03471.hp2
NA18952.hp2
NA19004.hp1
 intron_variant MODIFIER c.-46+63_-46+81dupCA
others(17): Show 
c.-46+63_-46+81dupCAGGTGCGGCGGGTGCGGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878356
chr8:143878372 C
C
 T
T
 1 a0269c0123t0002g0337
a0269c0123t0002g0337
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.-46+66G>A
c.-46+66G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878372
chr8:143878382 C
C
 T
T
 10 a0029c0040t0001g0060
a0029c0040t0004g0056
a0125c0200t0001g0289
others(7): Show 
a0029c0040t0001g0060
a0029c0040t0004g0056
a0125c0200t0001g0289
a0128c0277t0022g0032
a0132c0286t0004g0054
a0144c0307t0001g0058
a0145c0309t0001g0062
a0147c0304t0001g0055
a0149c0294t0001g0061
a0194c0230t0021g0057
 10 HG02257.hp2
HG02280.hp1
HG02486.hp2
others(7): Show 
HG02257.hp2
HG02280.hp1
HG02486.hp2
HG02622.hp1
HG02809.hp2
HG02895.hp2
HG02896.hp1
HG03041.hp1
HG03209.hp2
NA19240.hp2
 intron_variant MODIFIER c.-46+56G>A
c.-46+56G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878382
chr8:143878385 GCCGCACC
others(3): Show 
GCCGCACCTGC
 G
G
 6 a0006c0003t0004g0230
a0009c0187t0014g0229
a0076c0198t0003g0228
others(3): Show 
a0006c0003t0004g0230
a0009c0187t0014g0229
a0076c0198t0003g0228
a0169c0217t0001g0233
a0204c0222t0001g0231
a0255c0141t0002g0232
 6 HG01952.hp2
HG01981.hp2
HG04184.hp2
others(3): Show 
HG01952.hp2
HG01981.hp2
HG04184.hp2
HG04199.hp2
NA18952.hp1
NA19012.hp2
 intron_variant MODIFIER c.-46+43_-46+52delGC
others(8): Show 
c.-46+43_-46+52delGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878385
chr8:143878393 T
T
 TGCCCGCA
others(22): Show 
TGCCCGCACCCGCCCGCACCCGCCGCACCC
 1 a0059c0152t0001g0274
a0059c0152t0001g0274
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.-46+44_-46+45insGG
others(27): Show 
c.-46+44_-46+45insGGGTGCGGCGGGTGCGGGCGGGTGCGGGC
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878393
chr8:143878395 C
C
 CCCGCACC
others(2): Show 
CCCGCACCCG
 150 a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0093
others(147): Show 
a0001c0001t0001g0001
a0001c0001t0001g0008
a0001c0001t0001g0093
a0001c0001t0001g0095
a0001c0001t0001g0191
a0001c0001t0005g0151
a0001c0005t0001g0123
a0001c0005t0001g0180
a0001c0005t0004g0192
a0001c0010t0001g0009
a0001c0010t0001g0117
a0001c0033t0001g0017
a0001c0035t0001g0179
a0001c0035t0004g0178
a0001c0209t0001g0116
a0001c0242t0001g0124
a0001c0249t0001g0126
a0002c0002t0001g0003
a0002c0299t0005g0092
a0002c0318t0001g0142
a0002c0320t0008g0143
a0003c0030t0003g0010
a0005c0004t0001g0004
a0006c0003t0001g0011
a0007c0013t0002g0134
a0007c0013t0006g0133
a0007c0013t0012g0132
a0007c0273t0002g0131
a0008c0017t0002g0014
a0008c0021t0002g0015
a0010c0015t0001g0202
a0010c0015t0001g0203
a0010c0050t0001g0204
a0012c0009t0001g0002
a0013c0014t0008g0137
a0014c0044t0002g0018
a0015c0041t0003g0140
a0015c0041t0013g0097
a0016c0312t0008g0189
a0016c0322t0008g0145
a0017c0012t0001g0104
a0018c0034t0001g0012
a0018c0206t0001g0115
a0019c0038t0001g0209
a0019c0038t0004g0125
a0019c0245t0001g0210
a0020c0032t0008g0098
a0020c0032t0015g0087
a0022c0024t0002g0153
a0022c0024t0002g0169
a0022c0094t0006g0152
a0025c0161t0001g0196
a0028c0039t0001g0198
a0028c0039t0004g0197
a0031c0036t0001g0013
a0032c0037t0004g0122
a0033c0213t0002g0118
a0033c0268t0006g0077
a0034c0260t0002g0128
a0034c0261t0006g0183
a0035c0043t0011g0079
a0035c0043t0011g0149
a0038c0019t0012g0163
a0043c0085t0026g0165
a0048c0072t0001g0159
a0049c0028t0002g0016
a0081c0194t0003g0100
a0093c0176t0007g0106
a0096c0197t0002g0101
a0098c0055t0009g0211
a0099c0054t0001g0103
a0104c0167t0001g0208
a0116c0171t0009g0200
a0117c0051t0004g0205
a0118c0052t0001g0206
a0119c0053t0004g0207
a0126c0202t0001g0112
a0127c0203t0001g0113
a0134c0305t0001g0088
a0135c0300t0001g0187
a0136c0321t0008g0144
a0137c0297t0001g0138
a0138c0282t0001g0201
a0140c0298t0001g0099
a0141c0301t0001g0188
a0142c0295t0001g0078
a0146c0302t0001g0105
a0148c0303t0001g0199
a0151c0281t0008g0135
a0152c0293t0001g0102
a0154c0291t0002g0193
a0155c0292t0002g0186
a0156c0290t0002g0185
a0159c0288t0023g0136
a0160c0317t0003g0141
a0162c0284t0002g0096
a0163c0313t0002g0190
a0166c0212t0003g0109
a0167c0215t0005g0119
a0171c0253t0001g0085
a0173c0225t0005g0107
a0174c0323t0001g0146
a0175c0324t0001g0147
a0179c0229t0001g0150
a0182c0232t0001g0094
a0183c0239t0017g0121
a0185c0210t0001g0176
a0187c0240t0001g0084
a0189c0208t0001g0086
a0190c0251t0001g0182
a0195c0231t0001g0177
a0196c0246t0001g0181
a0199c0252t0001g0127
a0201c0226t0001g0120
a0202c0218t0002g0091
a0210c0263t0002g0110
a0215c0269t0002g0111
a0216c0264t0002g0184
a0217c0267t0002g0130
a0219c0265t0002g0129
a0221c0201t0001g0108
a0222c0205t0002g0114
a0223c0325t0016g0194
a0225c0315t0003g0139
a0228c0328t0003g0148
a0229c0336t0011g0080
a0232c0057t0002g0154
a0235c0068t0002g0156
a0236c0067t0002g0155
a0241c0079t0002g0089
a0244c0111t0002g0173
a0245c0110t0002g0172
a0246c0113t0002g0083
a0252c0107t0001g0171
a0253c0080t0007g0161
a0254c0081t0002g0162
a0256c0082t0002g0164
a0258c0106t0002g0170
a0264c0099t0007g0168
a0266c0098t0002g0090
a0272c0091t0002g0167
a0275c0120t0002g0174
a0277c0121t0002g0175
a0278c0074t0002g0195
a0279c0087t0002g0166
a0298c0070t0020g0158
a0300c0073t0001g0160
a0301c0069t0001g0157
a0303c0062t0006g0081
a0305c0063t0006g0082
 171 HG00099.hp2
HG00140.hp2
HG00280.hp1
others(168): Show 
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp2
HG00408.hp1
HG00544.hp1
HG00558.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01358.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01928.hp2
HG01934.hp2
HG01952.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02080.hp1
HG02080.hp2
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02257.hp1
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp2
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp1
HG02818.hp1
HG02886.hp2
HG02922.hp1
HG02922.hp2
HG02970.hp2
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03927.hp2
HG03942.hp2
HG04204.hp2
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp1
NA18945.hp2
NA18951.hp2
NA18954.hp2
NA18956.hp2
NA18957.hp2
NA18959.hp1
NA18960.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp1
NA18968.hp2
NA18969.hp1
NA18971.hp1
NA18973.hp1
NA18973.hp2
NA18977.hp1
NA18977.hp2
NA18978.hp2
NA18979.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18986.hp1
NA18990.hp2
NA18991.hp1
NA18993.hp2
NA18994.hp1
NA18997.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp1
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19058.hp2
NA19064.hp1
NA19065.hp2
NA19066.hp1
NA19074.hp1
NA19076.hp2
NA19080.hp2
NA19081.hp1
NA19085.hp1
NA19088.hp1
NA19090.hp2
NA19091.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-46+34_-46+42dupCG
others(7): Show 
c.-46+34_-46+42dupCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(40): Show 
CCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCCG
 4 a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
others(1): Show 
a0056c0158t0001g0048
a0057c0153t0001g0049
a0058c0155t0001g0047
a0060c0154t0001g0046
 4 HG02818.hp2
HG03098.hp2
HG03225.hp2
others(1): Show 
HG02818.hp2
HG03098.hp2
HG03225.hp2
HG03486.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(45): Show 
c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGGCGGGTGCGGCGGG
TGCGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(31): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCG
 7 a0015c0316t0003g0227
a0106c0164t0009g0224
a0107c0166t0009g0226
others(4): Show 
a0015c0316t0003g0227
a0106c0164t0009g0224
a0107c0166t0009g0226
a0108c0165t0009g0225
a0109c0163t0009g0223
a0115c0172t0001g0221
a0124c0327t0005g0222
 7 HG02559.hp1
HG02559.hp2
HG02572.hp1
others(4): Show 
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG03130.hp1
HG03195.hp2
HG03486.hp2
HG03579.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(36): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGG
GTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(125): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCGCC
GCACCCGCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCA
CCTGCCCGCACCCGCCGCACCTGCCCGCACCCG
 1 a0131c0285t0001g0214
a0131c0285t0001g0214
 1 HG01884.hp2
HG01884.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(130): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGGTG
CGGCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(116): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCGCC
GCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCTGCCCGC
ACCCGCCGCACCTGCCCGCACCCG
 1 a0002c0296t0001g0215
a0002c0296t0001g0215
 1 NA18522.hp1
NA18522.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(121): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGGTG
CGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(69): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC
CGCACCCGCCGCACCTGCCCGCACCCG
 3 a0029c0040t0001g0060
a0145c0309t0001g0062
a0149c0294t0001g0061
a0029c0040t0001g0060
a0145c0309t0001g0062
a0149c0294t0001g0061
 3 HG02486.hp2
HG02809.hp2
HG03209.hp2
HG02486.hp2
HG02809.hp2
HG03209.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(74): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(88): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC
CGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG
 5 a0029c0040t0004g0056
a0132c0286t0004g0054
a0144c0307t0001g0058
others(2): Show 
a0029c0040t0004g0056
a0132c0286t0004g0054
a0144c0307t0001g0058
a0147c0304t0001g0055
a0194c0230t0021g0057
 5 HG02257.hp2
HG02280.hp1
HG02895.hp2
others(2): Show 
HG02257.hp2
HG02280.hp1
HG02895.hp2
HG03041.hp1
NA19240.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(93): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTG
CGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(98): Show 
CCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC
CGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCGCACCTGCCCG
CACCCG
 4 a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
others(1): Show 
a0065c0149t0002g0219
a0066c0148t0007g0218
a0067c0147t0002g0217
a0113c0048t0010g0216
 4 HG02145.hp2
HG03130.hp2
HG03471.hp1
others(1): Show 
HG02145.hp2
HG03130.hp2
HG03471.hp1
NA19240.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(103): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGT
GCGGCGGGTGCGGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(11): Show 
CCCGCACCCGCCGCACCCG
 5 a0043c0089t0002g0042
a0054c0340t0027g0045
a0084c0191t0012g0041
others(2): Show 
a0043c0089t0002g0042
a0054c0340t0027g0045
a0084c0191t0012g0041
a0237c0139t0001g0043
a0280c0134t0006g0044
 5 HG00140.hp1
HG01255.hp2
HG01515.hp1
others(2): Show 
HG00140.hp1
HG01255.hp2
HG01515.hp1
HG01884.hp1
NA20805.hp2
 intron_variant MODIFIER c.-46+25_-46+42dupCG
others(16): Show 
c.-46+25_-46+42dupCGGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(20): Show 
CCCGCACCCGCCGCACCCGCCGCACCCG
 3 a0021c0006t0007g0037
a0073c0339t0009g0039
a0240c0078t0002g0038
a0021c0006t0007g0037
a0073c0339t0009g0039
a0240c0078t0002g0038
 3 HG02109.hp1
NA18998.hp2
NA19081.hp2
HG02109.hp1
NA18998.hp2
NA19081.hp2
 intron_variant MODIFIER c.-46+16_-46+42dupCG
others(25): Show 
c.-46+16_-46+42dupCGGGTGCGGCGGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(29): Show 
CCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCG
 1 a0072c0160t0009g0036
a0072c0160t0009g0036
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.-46+7_-46+42dupCGG
others(33): Show 
c.-46+7_-46+42dupCGGGTGCGGCGGGTGCGGCGGGTGCGGCGGGTG
CGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(38): Show 
CCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCG
 2 a0027c0042t0001g0035
a0027c0042t0004g0034
a0027c0042t0001g0035
a0027c0042t0004g0034
 2 HG02895.hp1
HG02896.hp2
HG02895.hp1
HG02896.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(43): Show 
c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGCGGGTGCGGCGGGT
GCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(56): Show 
CCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGC
ACCCGCCGCACCCG
 1 a0025c0162t0001g0033
a0025c0162t0001g0033
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(61): Show 
c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGCGGGTGCGGCGGGT
GCGGCGGGTGCGGCGGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(30): Show 
CCCGCACCCGCCGCACCCGCCGCACCTGCCCGCACCCG
 2 a0064c0150t0001g0051
a0069c0151t0004g0052
a0064c0150t0001g0051
a0069c0151t0004g0052
 2 HG02723.hp1
HG03225.hp1
HG02723.hp1
HG03225.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(35): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGG
TGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(21): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCG
 14 a0002c0002t0001g0074
a0002c0002t0001g0076
a0017c0012t0001g0065
others(11): Show 
a0002c0002t0001g0074
a0002c0002t0001g0076
a0017c0012t0001g0065
a0017c0012t0001g0066
a0071c0347t0001g0063
a0110c0046t0010g0071
a0111c0047t0010g0072
a0112c0045t0010g0070
a0114c0173t0001g0064
a0133c0310t0003g0075
a0157c0278t0002g0067
a0191c0237t0001g0068
a0198c0248t0001g0069
a0224c0204t0005g0073
 14 HG01361.hp1
HG02109.hp2
HG02300.hp1
others(11): Show 
HG01361.hp1
HG02109.hp2
HG02300.hp1
HG02723.hp2
HG02976.hp1
HG03516.hp1
HG03540.hp1
HG03654.hp2
HG04228.hp2
NA18522.hp2
NA19057.hp1
NA19088.hp2
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(26): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(154): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCCGCACCCGCCGCACCCGCC
CGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGC
ACCCGCCCGCACCCGCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACC
TGCCCGCACCCG
 1 a0257c0083t0002g0053
a0257c0083t0002g0053
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(159): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGCGGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGTGCGGGCAGGTG
CGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGTGCGG
GCGGGTGCGGGCAGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(117): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCCGCACCCGCCGCACCCGCC
CGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCTGCCCG
CACCCGCCGCACCTGCCCGCACCCG
 1 a0130c0283t0006g0220
a0130c0283t0006g0220
 1 HG01099.hp2
HG01099.hp2
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(122): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGT
GCGGCGGGTGCGGGCGGGTGCGGGCAGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(30): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCG
 1 a0100c0049t0010g0040
a0100c0049t0010g0040
 1 NA21309.hp1
NA21309.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(35): Show 
c.-46+42_-46+43insCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGG
TGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(58): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCGCCGCACCCGCCG
CACCTGCCCGCACCCG
 1 a0226c0326t0005g0050
a0226c0326t0005g0050
 1 NA19076.hp1
NA19076.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(63): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGG
TGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(40): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG
 2 a0024c0029t0001g0007
a0063c0159t0004g0059
a0024c0029t0001g0007
a0063c0159t0004g0059
 3 HG02809.hp1
HG03453.hp1
HG03579.hp1
HG02809.hp1
HG03453.hp1
HG03579.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(45): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(163): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCC
CGCACCCGCCGCACCTGCCCGCACCCGCCGCACCCGCCGCACCCGCCGCA
CCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCTGCCCGCACC
CGCCGCACCTGCCCGCACCCG
 1 a0068c0146t0003g0213
a0068c0146t0003g0213
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(168): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGGTG
CGGCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG
GCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 C
C
 CCCGCACC
others(182): Show 
CCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCC
GCACCTGCCCGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGC
ACCCGCCGCACCCGCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCT
GCCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCG
 1 a0209c0214t0010g0212
a0209c0214t0010g0212
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.-46+42_-46+43insCG
others(187): Show 
c.-46+42_-46+43insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGCGGGTG
CGGCGGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGG
GCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCG
GGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878395 CCCGCACC
others(2): Show 
CCCGCACCCG
 C
C
 37 a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0031t0003g0369
others(34): Show 
a0003c0008t0003g0027
a0003c0008t0003g0360
a0003c0031t0003g0369
a0003c0031t0024g0368
a0009c0174t0014g0357
a0009c0178t0014g0350
a0023c0102t0002g0342
a0026c0185t0002g0354
a0026c0186t0002g0355
a0039c0023t0007g0346
a0040c0018t0002g0026
a0042c0088t0002g0371
a0045c0027t0002g0363
a0045c0027t0006g0362
a0046c0026t0002g0347
a0053c0144t0002g0349
a0075c0199t0003g0340
a0077c0175t0012g0358
a0078c0177t0003g0339
a0079c0342t0003g0338
a0080c0195t0003g0370
a0083c0188t0001g0366
a0085c0190t0001g0348
a0086c0189t0001g0367
a0087c0192t0012g0359
a0088c0179t0001g0341
a0089c0183t0002g0352
a0090c0184t0007g0353
a0092c0182t0013g0351
a0095c0196t0002g0356
a0207c0219t0006g0345
a0230c0337t0002g0361
a0270c0093t0001g0343
a0271c0138t0001g0365
a0273c0090t0007g0372
a0274c0135t0007g0364
a0293c0136t0002g0344
 39 HG00423.hp1
HG00558.hp2
HG00733.hp1
others(36): Show 
HG00423.hp1
HG00558.hp2
HG00733.hp1
HG00738.hp2
HG01099.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01257.hp1
HG01346.hp1
HG01361.hp2
HG01515.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG02004.hp1
HG02523.hp2
HG02683.hp1
HG02698.hp2
HG03017.hp1
HG03017.hp2
HG03491.hp1
HG03492.hp1
HG03669.hp1
HG03688.hp1
HG04115.hp2
HG04184.hp1
HG04199.hp1
HG04204.hp1
NA18953.hp1
NA18972.hp1
NA18974.hp1
NA19009.hp2
NA19079.hp1
NA19084.hp2
NA20752.hp1
NA20905.hp2
NA21309.hp2
 intron_variant MODIFIER c.-46+34_-46+42delCG
others(7): Show 
c.-46+34_-46+42delCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878395
chr8:143878396 C
C
 CCGCACCC
others(67): Show 
CCGCACCCGCCCGCACCCGCCGCACCTGCCGCACCCGCCGCACCTGCCCG
CACCCGCCGCACCTGCCCGCACCCG
 1 a0128c0277t0022g0032
a0128c0277t0022g0032
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.-46+41_-46+42insCG
others(72): Show 
c.-46+41_-46+42insCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAG
GTGCGGCGGGTGCGGCAGGTGCGGCGGGTGCGGGCGGGTGCG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878396
chr8:143878403 C
C
 T
T
 1 a0094c0181t0007g0378
a0094c0181t0007g0378
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.-46+35G>A
c.-46+35G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878403
chr8:143878404 G
G
 GCACCCGC
others(72): Show 
GCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCACCC
GCCGCACCTGCCCGCACCCGCCGCACCTGC
 1 a0269c0123t0002g0337
a0269c0123t0002g0337
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(77): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGG
GTGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCCGCAC
others(90): Show 
GCCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCTGC
CCGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCGCACCTGC
 1 a0094c0181t0007g0378
a0094c0181t0007g0378
 1 HG00741.hp1
HG00741.hp1
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(95): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCA
GGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGT
GCGGGCGGGTGCGGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCCGCAC
others(51): Show 
GCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGC
CGCACCTGC
 1 a0125c0200t0001g0289
a0125c0200t0001g0289
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(56): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGG
GTGCGGGCAGGTGCGGCGGGTGCGGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(39): Show 
GCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCCGCCGCACCTGC
 1 a0186c0344t0001g0275
a0186c0344t0001g0275
 1 NA18969.hp2
NA18969.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(44): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGCGGGTGCGGCGGG
TGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(3): Show 
GCCGCACCTGC
 51 a0001c0001t0001g0025
a0001c0001t0001g0308
a0001c0005t0001g0335
others(48): Show 
a0001c0001t0001g0025
a0001c0001t0001g0308
a0001c0005t0001g0335
a0001c0236t0001g0327
a0001c0259t0001g0314
a0023c0095t0002g0294
a0023c0096t0002g0318
a0032c0037t0001g0328
a0036c0016t0001g0022
a0037c0075t0002g0316
a0041c0022t0002g0023
a0046c0026t0002g0302
a0047c0025t0002g0024
a0048c0060t0001g0333
a0050c0346t0001g0306
a0074c0335t0002g0307
a0139c0314t0019g0331
a0165c0207t0002g0336
a0168c0216t0001g0324
a0192c0235t0001g0326
a0193c0233t0001g0325
a0197c0247t0001g0313
a0200c0250t0001g0317
a0208c0220t0002g0312
a0211c0262t0002g0329
a0218c0266t0002g0330
a0234c0065t0005g0291
a0238c0077t0002g0293
a0239c0076t0002g0292
a0242c0116t0003g0298
a0243c0115t0013g0297
a0247c0112t0001g0296
a0249c0108t0001g0295
a0250c0114t0001g0319
a0259c0097t0002g0334
a0267c0137t0003g0304
a0268c0122t0002g0299
a0276c0133t0007g0322
a0281c0132t0002g0303
a0282c0140t0002g0305
a0283c0130t0002g0310
a0284c0131t0002g0311
a0285c0124t0007g0309
a0286c0061t0002g0315
a0287c0129t0002g0290
a0289c0126t0002g0300
a0290c0128t0001g0301
a0294c0119t0002g0321
a0295c0117t0002g0323
a0296c0118t0002g0320
a0299c0059t0001g0332
 55 HG00408.hp2
HG00423.hp2
HG00544.hp2
others(52): Show 
HG00408.hp2
HG00423.hp2
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00621.hp1
HG00621.hp2
HG00673.hp2
HG01081.hp2
HG01123.hp2
HG01168.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01975.hp2
HG01993.hp1
HG02040.hp2
HG02071.hp1
HG02129.hp1
HG02135.hp2
HG02155.hp1
HG02738.hp2
HG03239.hp2
HG03688.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04115.hp1
NA18747.hp2
NA18944.hp2
NA18949.hp1
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18954.hp1
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18963.hp2
NA18968.hp1
NA18970.hp1
NA18971.hp2
NA18975.hp2
NA18986.hp2
NA18995.hp1
NA18997.hp2
NA19011.hp1
NA19012.hp1
NA19054.hp2
NA19066.hp2
NA19074.hp2
NA19079.hp2
NA19080.hp1
NA19082.hp1
NA19090.hp1
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(8): Show 
c.-46+33_-46+34insGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(99): Show 
GCCGCACCTGCCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGC
CGCACCCGCCCGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCG
CACCTGC
 1 a0014c0280t0006g0379
a0014c0280t0006g0379
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(104): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCA
GGTGCGGCGGGTGCGGGCGGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGT
GCGGGCGGGTGCGGGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(80): Show 
GCCGCACCTGCCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGC
CGCACCCGCCCGCACCTGCCCGCACCCGCCGCACCTGC
 1 a0297c0071t0001g0380
a0297c0071t0001g0380
 1 NA20805.hp1
NA20805.hp1
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(85): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCG
GGTGCGGCGGGTGCGGGCGGGTGCGGCGGGTGCGGGCGGGTGCGGGCAGG
TGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(99): Show 
GCCGCACCTGCCCGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGC
CGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCG
CACCTGC
 4 a0042c0092t0002g0377
a0082c0193t0003g0376
a0091c0180t0002g0374
others(1): Show 
a0042c0092t0002g0377
a0082c0193t0003g0376
a0091c0180t0002g0374
a0153c0279t0002g0375
 4 HG00099.hp1
HG00323.hp1
HG01243.hp2
others(1): Show 
HG00099.hp1
HG00323.hp1
HG01243.hp2
HG02735.hp1
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(104): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCA
GGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGT
GCGGGCGGGTGCGGGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(22): Show 
GCCGCACCTGCCCGCACCCGCCGCACCTGC
 13 a0039c0023t0002g0278
a0051c0345t0002g0280
a0052c0056t0018g0283
others(10): Show 
a0039c0023t0002g0278
a0051c0345t0002g0280
a0052c0056t0018g0283
a0105c0338t0007g0287
a0158c0289t0002g0281
a0251c0084t0005g0277
a0260c0103t0002g0282
a0261c0105t0002g0286
a0262c0104t0002g0285
a0263c0100t0002g0284
a0265c0101t0025g0288
a0292c0125t0002g0279
a0304c0064t0006g0276
 13 HG01934.hp1
HG02027.hp1
HG02602.hp1
others(10): Show 
HG01934.hp1
HG02027.hp1
HG02602.hp1
HG03831.hp2
NA18970.hp2
NA18978.hp1
NA18983.hp2
NA18990.hp1
NA18991.hp2
NA19011.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(27): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(41): Show 
GCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGC
 1 a0233c0142t0002g0030
a0233c0142t0002g0030
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(46): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGG
GTGCGGGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878404 G
G
 GCCGCACC
others(137): Show 
GCCGCACCTGCCCGCACCCGCCGCACCTGCCCGCACCCGCCGCACCTGCC
CGCACCCGCCCGCACCCGCCGCACCCGCCCGCACCCGCCGCACCTGCCCG
CACCCGCCGCACCTGCCCGCACCTGCCCGCACCCGCCGCACCTGC
 1 a0129c0311t0013g0373
a0129c0311t0013g0373
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.-46+33_-46+34insGC
others(142): Show 
c.-46+33_-46+34insGCAGGTGCGGCGGGTGCGGGCAGGTGCGGGCA
GGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCGGGTGCGGCGGGT
GCGGGCGGGTGCGGGCAGGTGCGGCGGGTGCGGGCAGGTGCGGCGGGTGC
GGGCAGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878404
chr8:143878412 C
C
 T
T
 8 a0001c0001t0001g0386
a0006c0003t0001g0385
a0021c0006t0002g0028
others(5): Show 
a0001c0001t0001g0386
a0006c0003t0001g0385
a0021c0006t0002g0028
a0037c0143t0002g0384
a0143c0308t0001g0387
a0180c0243t0001g0382
a0288c0086t0002g0381
a0302c0066t0002g0383
 9 HG01978.hp1
HG02165.hp1
HG03209.hp1
others(6): Show 
HG01978.hp1
HG02165.hp1
HG03209.hp1
NA18947.hp2
NA18994.hp2
NA18999.hp1
NA19065.hp1
NA19084.hp1
NA19091.hp2
 intron_variant MODIFIER c.-46+26G>A
c.-46+26G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878412
chr8:143878413 G
G
 GC
GC
 8 a0001c0001t0001g0386
a0006c0003t0001g0385
a0021c0006t0002g0028
others(5): Show 
a0001c0001t0001g0386
a0006c0003t0001g0385
a0021c0006t0002g0028
a0037c0143t0002g0384
a0143c0308t0001g0387
a0180c0243t0001g0382
a0288c0086t0002g0381
a0302c0066t0002g0383
 9 HG01978.hp1
HG02165.hp1
HG03209.hp1
others(6): Show 
HG01978.hp1
HG02165.hp1
HG03209.hp1
NA18947.hp2
NA18994.hp2
NA18999.hp1
NA19065.hp1
NA19084.hp1
NA19091.hp2
 intron_variant MODIFIER c.-46+24dupG
c.-46+24dupG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878413
chr8:143878413 G
G
 GCCGCACC
others(20): Show 
GCCGCACCCGCCGCACCCGCCGCACCCA
 1 a0020c0223t0015g0388
a0020c0223t0015g0388
 1 NA18950.hp1
NA18950.hp1
 intron_variant MODIFIER c.-46+24_-46+25insTG
others(25): Show 
c.-46+24_-46+25insTGGGTGCGGCGGGTGCGGCGGGTGCGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878413
chr8:143878418 A
A
 ACCCGCCG
others(3): Show 
ACCCGCCGCAC
 1 a0177c0228t0005g0031
a0177c0228t0005g0031
 1 NA18974.hp2
NA18974.hp2
 intron_variant MODIFIER c.-46+10_-46+19dupGT
others(8): Show 
c.-46+10_-46+19dupGTGCGGCGGG
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878418
chr8:143878421 C
C
 CGCCGCAC
others(11): Show 
CGCCGCACCCGCCGCACCT
 1 a0176c0227t0001g0029
a0176c0227t0001g0029
 1 HG02135.hp1
HG02135.hp1
 intron_variant MODIFIER c.-47_-46+16dupAGGTG
others(13): Show 
c.-47_-46+16dupAGGTGCGGCGGGTGCGGC
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878421
chr8:143878421 C
C
 T
T
 1 a0233c0142t0002g0030
a0233c0142t0002g0030
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.-46+17G>A
c.-46+17G>A
EPPK1 ENSG00000261150.3 transcript ENST00000615648.2 protein_coding 1/1 chr8 143878421

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

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

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

IGV Connection Help

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

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

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

For more details, please refer to Information → FAQ.