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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   AHNAK2_chr14_104932253_104983374  AHNAK2_chr14_104932253_104983374 (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 113146
ensemblid ENSG00000185567.7
hgncid 20125
symbol AHNAK2
name AHNAK nucleoprotein 2
refseq_nuc NM_138420.4
refseq_prot NP_612429.2
ensembl_nuc ENST00000333244.6
ensembl_prot ENSP00000353114.4
mane_status MANE Select
chr chr14
start 104937253
end 104978374
strand -
ver v1.2
region chr14:104937253-104978374
region5000 chr14:104932253-104983374
regionname0 AHNAK2_chr14_104937253_104978374
regionname5000 AHNAK2_chr14_104932253_104983374

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 0/1 5135 21 1 14 0 4 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002 1/0 5795 13 0 0 12 0 0 8 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003 0/0 5795 11 0 1 8 2 0 7 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004 0/0 5960 9 0 0 8 0 1 6 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005 0/0 5795 9 1 4 1 1 2 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0006 0/0 5960 8 0 0 8 0 0 6 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0007 0/0 4970 8 1 6 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0008 0/0 5795 6 0 0 6 0 0 5 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009 0/0 5960 4 0 0 4 0 0 4 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0010 0/0 5960 4 0 0 4 0 0 4 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0011 0/0 5135 4 0 0 4 0 0 4 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0012 0/0 5795 4 0 0 4 0 0 4 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0013 0/0 5795 4 0 0 4 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0014 0/0 5300 4 0 0 4 0 0 4 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015 0/0 5795 4 0 4 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0016 0/0 5960 3 0 1 0 0 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0017 0/0 5960 3 0 0 1 0 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0018 0/0 5135 3 0 0 3 0 0 3 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0019 0/0 5960 3 0 0 3 0 0 3 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0020 0/0 5630 3 0 0 3 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021 0/0 5135 3 0 0 3 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0022 0/0 5135 3 0 1 0 1 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0023 0/0 5795 3 0 0 3 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0024 0/0 5795 3 0 0 3 0 0 3 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0025 0/0 5135 3 0 2 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0026 0/0 5795 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0027 0/0 5960 2 0 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0028 0/0 4805 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0029 0/0 5135 2 0 0 2 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0030 0/0 5135 2 0 0 0 0 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0031 0/0 5135 2 0 0 0 0 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0032 0/0 5795 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0033 0/0 5795 2 0 0 2 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0034 0/0 5795 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0035 0/0 5795 2 0 0 2 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0036 0/0 6455 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0037 0/0 5630 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0038 0/0 5795 2 0 0 2 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0039 0/0 5795 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0040 0/0 5795 2 0 0 2 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0041 0/0 5795 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0042 0/0 5795 2 0 0 2 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0043 0/0 5630 2 0 0 2 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0044 0/0 5795 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0045 0/0 5795 2 2 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0046 0/0 5795 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0047 0/0 5795 2 0 0 2 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0048 0/0 5795 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0049 0/0 5795 2 0 0 0 1 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0050 0/0 5135 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0051 0/0 5135 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0052 0/0 5135 2 0 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0053 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0054 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0055 0/0 4977 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0056 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0057 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0058 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0059 0/0 5960 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0060 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0061 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0062 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0063 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0064 0/0 5465 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0065 0/0 4805 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0066 0/0 5630 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0067 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0068 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0069 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0070 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0071 0/0 6125 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0072 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0073 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0074 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0075 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0076 0/0 6125 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0077 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0078 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0079 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0080 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0081 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0082 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0083 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0084 0/0 5960 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0085 0/0 5960 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0086 0/0 5630 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0087 0/0 5960 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0088 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0089 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0090 0/0 5960 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0091 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0092 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0093 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0094 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0095 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0096 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0097 0/0 5960 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0098 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0099 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0100 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0101 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0102 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0103 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0104 0/0 4640 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0105 0/0 5135 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0106 0/0 4640 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0107 0/0 5135 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0108 0/0 4970 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0109 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0110 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0111 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0112 0/0 5135 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0113 0/0 5135 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0114 0/0 6455 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0115 0/0 5135 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0116 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0117 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0118 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0119 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0120 0/0 4640 1 0 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0121 0/0 5135 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0122 0/0 4970 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0123 0/0 5135 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0124 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0125 0/0 5465 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0126 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0127 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0128 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0129 0/0 5795 1 0 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0130 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0131 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0132 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0133 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0134 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0135 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0136 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0137 0/0 5465 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0138 0/0 5465 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0139 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0140 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0141 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0142 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0143 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0144 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0145 0/0 5795 1 0 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0146 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0147 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0148 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0149 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0150 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0151 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0152 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0153 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0154 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0155 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0156 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0157 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0158 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0159 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0160 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0161 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0162 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0163 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0164 0/0 5300 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0165 0/0 4970 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0166 0/0 4970 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0167 0/0 4805 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0168 0/0 4805 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0169 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0170 0/0 5135 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0171 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0172 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0173 0/0 5630 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0174 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0175 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0176 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0177 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0178 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0179 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0180 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0181 0/0 5630 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0182 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0183 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0184 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0185 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0186 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0187 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0188 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0189 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0190 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0191 0/0 6455 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0192 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0193 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0194 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0195 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0196 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0197 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0198 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0199 0/0 5795 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0200 0/0 5795 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0201 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0202 0/0 5795 1 0 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0203 0/0 5795 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0204 0/0 5630 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0205 0/0 4977 1 0 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0206 0/0 5795 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0207 0/0 5960 1 0 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0208 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0209 0/0 5960 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0210 0/0 2364 1 1 0 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0211 0/0 5960 1 0 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 0/1 15408 11 1 5 0 3 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0002 1/0 17388 8 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0003 0/0 15408 8 0 7 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0004 0/0 14913 7 1 5 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0005 0/0 17883 7 0 0 6 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0006 0/0 17883 7 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0007 0/0 17388 6 0 0 6 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0008 0/0 17388 4 0 0 2 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0009 0/0 15903 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0010 0/0 17388 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0011 0/0 17883 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0012 0/0 15408 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0013 0/0 17388 3 0 1 1 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0014 0/0 17388 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0015 0/0 17883 3 0 0 1 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0016 0/0 17883 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0017 0/0 15408 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0018 0/0 16893 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0019 0/0 14418 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0020 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0021 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0022 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0023 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0024 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0025 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0026 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0027 0/0 17388 2 0 0 0 1 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0028 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0029 0/0 16893 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0030 0/0 19368 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0031 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0032 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0033 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0034 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0035 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0036 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0037 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0038 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0039 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0040 0/0 16893 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0041 0/0 17883 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0042 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0043 0/0 17883 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0044 0/0 15408 2 0 1 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0045 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0046 0/0 15408 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0047 0/0 15408 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0048 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0049 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0050 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0051 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0052 0/0 15408 2 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0053 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0054 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0055 0/0 17884 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0056 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0057 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0058 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0059 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0060 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0061 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0062 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0063 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0064 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0065 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0066 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0067 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0068 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0069 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0070 0/0 13923 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0071 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0072 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0073 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0074 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0075 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0076 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0077 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0078 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0079 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0080 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0081 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0082 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0083 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0084 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0085 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0086 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0087 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0088 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0089 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0090 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0091 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0092 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0093 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0094 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0095 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0096 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0097 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0098 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0099 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0100 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0101 0/0 14418 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0102 0/0 14418 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0103 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0104 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0105 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0106 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0107 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0108 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0109 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0110 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0111 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0112 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0113 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0114 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0115 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0116 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0117 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0118 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0119 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0120 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0121 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0122 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0123 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0124 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0125 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0126 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0127 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0128 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0129 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0130 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0131 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0132 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0133 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0134 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0135 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0136 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0137 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0138 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0139 0/0 15903 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0140 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0141 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0142 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0143 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0144 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0145 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0146 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0147 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0148 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0149 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0150 0/0 19368 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0151 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0152 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0153 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0154 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0155 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0156 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0157 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0158 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0159 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0160 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0161 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0162 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0163 0/0 18378 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0164 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0165 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0166 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0167 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0168 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0169 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0170 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0171 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0172 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0173 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0174 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0175 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0176 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0177 0/0 18378 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0178 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0179 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0180 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0181 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0182 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0183 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0184 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0185 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0186 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0187 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0188 0/0 16893 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0189 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0190 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0191 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0192 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0193 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0194 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0195 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0196 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0197 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0198 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0199 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0200 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0201 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0202 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0203 0/0 14418 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0204 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0205 0/0 14934 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0206 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0207 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0208 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0209 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0210 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0211 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0212 0/0 13923 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0213 0/0 14913 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0214 0/0 13923 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0215 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0216 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0217 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0218 0/0 14913 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0219 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0220 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0221 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0222 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0223 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0224 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0225 0/0 19368 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0226 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0227 0/0 15408 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0228 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0229 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0230 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0231 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0232 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0233 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0234 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0235 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0236 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0237 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0238 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0239 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0240 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0241 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0242 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0243 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0244 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0245 0/0 14934 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0246 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0247 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
c0248 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 948 161 32 32 82 6 8 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0002 0/1 948 131 20 40 42 6 22 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0003 0/0 947 27 27 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0004 0/0 948 11 0 0 9 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0005 0/0 948 8 0 0 8 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0006 0/0 948 4 0 1 0 0 3 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0007 0/0 948 4 1 0 0 0 3 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0008 0/0 948 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0009 0/0 948 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0010 0/0 948 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0011 0/0 948 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0012 0/0 947 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0013 0/0 948 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0014 0/0 948 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
t0015 0/0 948 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/1 6 0 2 0 3 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0002 0/0 5 0 5 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0003 1/0 5 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0004 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0005 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0006 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0007 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0008 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0009 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0010 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0011 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0012 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0013 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0014 0/0 2 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0015 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0016 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0017 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0018 0/0 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0019 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0020 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0021 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0022 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0023 0/0 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0024 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0025 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0026 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0027 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0028 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0029 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0030 0/0 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0031 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0032 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0033 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0034 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0035 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0036 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0037 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0038 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0039 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0040 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0041 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0042 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0043 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0044 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0045 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0046 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0047 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0048 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0049 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0050 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0051 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0052 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0053 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0054 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0055 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0056 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0057 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0058 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0059 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0060 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0061 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0062 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0063 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0064 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0065 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0066 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0067 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0068 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0069 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0070 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0071 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0072 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0073 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0074 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0075 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0076 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0077 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0078 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0079 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0080 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0081 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0082 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0083 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0084 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0085 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0086 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0087 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0088 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0089 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0090 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0091 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0092 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0093 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0094 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0095 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0096 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0097 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0098 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0099 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0100 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0101 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0102 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0103 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0104 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0105 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0106 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0107 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0108 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0109 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0110 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0111 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0112 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0113 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0114 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0115 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0116 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0117 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0118 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0119 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0120 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0121 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0122 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0123 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0124 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0125 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0126 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0127 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0128 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0129 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0130 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0131 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0132 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0133 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0134 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0135 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0136 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0137 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0138 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0139 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0140 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0141 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0142 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0143 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0144 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0145 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0146 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0147 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0148 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0149 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0150 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0151 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0152 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0153 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0154 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0155 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0156 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0157 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0158 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0159 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0160 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0161 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0162 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0163 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0164 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0165 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0166 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0167 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0168 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0169 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0170 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0171 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0172 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0173 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0174 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0175 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0176 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0177 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0178 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0179 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0180 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0181 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0182 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0183 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0184 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0185 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0186 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0187 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0188 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0189 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0190 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0191 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0192 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0193 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0194 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0195 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0196 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0197 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0198 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0199 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0200 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0201 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0202 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0203 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0204 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0205 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0206 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0207 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0208 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0209 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0210 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0211 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0212 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0213 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0214 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0215 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0216 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0217 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0218 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0219 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0220 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0221 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0222 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0223 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0224 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0225 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0226 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0227 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0228 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0229 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0230 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0231 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0232 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0233 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0234 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0235 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0236 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0237 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0238 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0239 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0240 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0241 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0242 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0243 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0244 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0245 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0246 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0247 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0248 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0249 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0250 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0251 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0252 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0253 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0254 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0255 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0256 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0257 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0258 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0259 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0260 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0261 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0262 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0263 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0264 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0265 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0266 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0267 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0268 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0269 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0270 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0271 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0272 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0273 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0274 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0275 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0276 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0277 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0278 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0279 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0280 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0281 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0282 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0283 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0284 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0285 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0286 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0287 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0288 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0289 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0290 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0291 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0292 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0293 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0294 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0295 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0296 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0297 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0298 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0299 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0300 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0301 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0302 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0303 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
g0304 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 0/1 15408 11 1 5 0 3 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0001c0003 0/0 15408 8 0 7 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0001c0045 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0002 1/0 17388 8 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0031 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0109 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0112 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0113 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0008 0/0 17388 4 0 0 2 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0033 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0115 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0117 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0129 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0134 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0149 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0005 0/0 17883 7 0 0 6 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0157 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0158 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0013 0/0 17388 3 0 1 1 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0025 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0027 0/0 17388 2 0 0 0 1 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0067 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0091 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0006c0006 0/0 17883 7 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0006c0200 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0007c0004 0/0 14913 7 1 5 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0007c0104 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0008c0007 0/0 17388 6 0 0 6 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0043 0/0 17883 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0185 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0186 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0010c0011 0/0 17883 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0011c0012 0/0 15408 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0012c0036 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0012c0039 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0013c0010 0/0 17388 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0014c0009 0/0 15903 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0035 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0122 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0125 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0016c0041 0/0 17883 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0016c0160 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0017c0015 0/0 17883 3 0 0 1 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0018c0017 0/0 15408 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0019c0016 0/0 17883 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0020c0018 0/0 16893 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0219 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0220 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0244 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0022c0044 0/0 15408 2 0 1 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0022c0215 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0023c0021 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0023c0072 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0024c0014 0/0 17388 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0025c0052 0/0 15408 2 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0025c0248 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0026c0042 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0027c0189 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0027c0190 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0028c0019 0/0 14418 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0029c0047 0/0 15408 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0030c0223 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0030c0226 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0031c0046 0/0 15408 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0032c0050 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0033c0022 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0034c0048 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0035c0023 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0036c0030 0/0 19368 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0037c0029 0/0 16893 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0038c0037 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0039c0028 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0040c0038 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0041c0083 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0041c0099 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0042c0026 0/0 17388 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0043c0040 0/0 16893 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0044c0049 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0045c0024 0/0 17388 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0046c0032 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0047c0106 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0047c0111 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0048c0034 0/0 17388 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0049c0118 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0049c0127 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0050c0020 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0051c0051 0/0 15408 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0052c0208 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0052c0209 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0053c0246 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0054c0059 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0055c0205 0/0 14934 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0056c0159 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0057c0156 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0058c0155 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0059c0161 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0060c0162 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0061c0166 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0062c0167 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0063c0168 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0064c0165 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0065c0203 0/0 14418 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0066c0202 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0067c0058 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0068c0169 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0069c0184 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0070c0170 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0071c0177 0/0 18378 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0072c0178 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0073c0171 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0074c0179 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0075c0164 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0076c0163 0/0 18378 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0077c0182 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0078c0175 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0079c0183 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0080c0180 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0081c0173 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0082c0174 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0083c0176 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0084c0181 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0085c0172 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0086c0188 0/0 16893 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0087c0187 0/0 17883 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0088c0198 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0089c0196 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0090c0195 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0091c0193 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0092c0191 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0093c0192 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0094c0194 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0095c0197 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0096c0199 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0097c0201 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0098c0204 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0099c0061 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0100c0062 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0101c0063 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0102c0064 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0103c0065 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0104c0212 0/0 13923 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0105c0211 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0106c0070 0/0 13923 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0107c0234 0/0 15408 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0108c0218 0/0 14913 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0109c0222 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0110c0221 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0111c0232 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0112c0227 0/0 15408 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0113c0216 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0114c0225 0/0 19368 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0115c0217 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0116c0229 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0117c0224 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0118c0230 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0119c0228 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0120c0214 0/0 13923 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0121c0231 0/0 15408 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0122c0213 0/0 14913 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0123c0233 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0124c0071 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0125c0242 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0126c0240 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0127c0241 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0128c0239 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0129c0133 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0130c0075 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0131c0235 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0132c0236 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0133c0097 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0134c0096 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0135c0076 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0136c0140 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0137c0094 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0138c0095 0/0 16398 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0139c0142 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0140c0093 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0141c0092 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0142c0085 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0143c0087 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0144c0238 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0145c0089 0/0 17388 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0146c0090 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0147c0088 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0148c0081 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0149c0086 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0150c0082 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0151c0145 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0152c0146 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0153c0147 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0154c0148 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0155c0084 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0156c0144 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0157c0080 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0158c0143 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0159c0141 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0160c0078 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0161c0079 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0162c0077 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0163c0098 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0164c0139 0/0 15903 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0165c0100 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0166c0103 0/0 14913 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0167c0101 0/0 14418 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0168c0102 0/0 14418 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0169c0237 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0170c0105 0/0 15408 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0171c0107 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0172c0124 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0173c0114 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0174c0110 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0175c0116 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0176c0135 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0177c0119 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0178c0108 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0179c0121 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0180c0120 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0181c0060 0/0 16893 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0182c0128 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0183c0130 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0184c0123 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0185c0126 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0186c0132 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0187c0131 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0188c0074 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0189c0073 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0190c0151 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0191c0150 0/0 19368 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0192c0137 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0193c0138 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0194c0136 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0195c0243 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0196c0207 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0197c0057 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0198c0152 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0199c0069 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0200c0153 0/0 17388 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0201c0154 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0202c0068 0/0 17388 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0203c0210 0/0 17388 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0204c0053 0/0 16893 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0205c0245 0/0 14934 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0206c0066 0/0 17388 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0207c0206 0/0 17883 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0208c0056 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0209c0054 0/0 17883 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0210c0055 0/0 17884 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0211c0247 0/0 17883 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0002 0/1 16355 11 1 5 0 3 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0001c0003t0002 0/0 16355 8 0 7 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0001c0045t0002 0/0 16355 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0002t0001 1/0 18335 8 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0031t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0109t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0112t0008 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0002c0113t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0008t0001 0/0 18335 4 0 0 2 2 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0033t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0115t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0117t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0129t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0134t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0003c0149t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0005t0004 0/0 18830 7 0 0 6 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0157t0004 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0004c0158t0004 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0013t0001 0/0 18335 3 0 1 1 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0025t0001 0/0 18335 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0027t0001 0/0 18335 2 0 0 0 1 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0067t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0005c0091t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0006c0006t0002 0/0 18830 7 0 0 7 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0006c0200t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0007c0004t0001 0/0 15860 7 1 5 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0007c0104t0001 0/0 15860 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0008c0007t0001 0/0 18335 5 0 0 5 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0008c0007t0008 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0043t0002 0/0 18830 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0185t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0009c0186t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0010c0011t0002 0/0 18830 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0011c0012t0002 0/0 16355 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0012c0036t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0012c0039t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0013c0010t0001 0/0 18335 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0014c0009t0001 0/0 16850 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0035t0002 0/0 18335 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0122t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0015c0125t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0016c0041t0006 0/0 18830 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0016c0160t0006 0/0 18830 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0017c0015t0002 0/0 18830 3 0 0 1 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0018c0017t0005 0/0 16355 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0019c0016t0005 0/0 18830 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0020c0018t0002 0/0 17840 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0219t0002 0/0 16355 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0220t0002 0/0 16355 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0021c0244t0002 0/0 16355 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0022c0044t0002 0/0 16355 2 0 1 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0022c0215t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0023c0021t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0023c0072t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0024c0014t0001 0/0 18335 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0025c0052t0002 0/0 16355 2 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0025c0248t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0026c0042t0002 0/0 18335 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0027c0189t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0027c0190t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0028c0019t0009 0/0 15365 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0029c0047t0002 0/0 16355 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0030c0223t0007 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0030c0226t0007 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0031c0046t0002 0/0 16355 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0032c0050t0003 0/0 18334 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0033c0022t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0034c0048t0003 0/0 18334 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0035c0023t0002 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0036c0030t0001 0/0 20315 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0037c0029t0001 0/0 17840 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0038c0037t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0039c0028t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0039c0028t0014 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0040c0038t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0041c0083t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0041c0099t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0042c0026t0001 0/0 18335 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0043c0040t0001 0/0 17840 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0044c0049t0003 0/0 18334 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0045c0024t0001 0/0 18335 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0046c0032t0002 0/0 18335 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0047c0106t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0047c0111t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0048c0034t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0048c0034t0011 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0049c0118t0001 0/0 18335 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0049c0127t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0050c0020t0001 0/0 16355 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0051c0051t0001 0/0 16355 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0052c0208t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0052c0209t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0053c0246t0002 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0054c0059t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0055c0205t0002 0/0 15881 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0056c0159t0004 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0057c0156t0010 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0058c0155t0004 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0059c0161t0013 0/0 18830 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0060c0162t0006 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0061c0166t0002 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0062c0167t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0063c0168t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0064c0165t0001 0/0 17345 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0065c0203t0002 0/0 15365 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0066c0202t0005 0/0 17840 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0067c0058t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0068c0169t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0069c0184t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0070c0170t0002 0/0 18830 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0071c0177t0002 0/0 19325 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0072c0178t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0073c0171t0002 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0074c0179t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0075c0164t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0076c0163t0001 0/0 19325 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0077c0182t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0078c0175t0002 0/0 18830 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0079c0183t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0080c0180t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0081c0173t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0082c0174t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0083c0176t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0084c0181t0002 0/0 18830 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0085c0172t0002 0/0 18830 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0086c0188t0002 0/0 17840 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0087c0187t0002 0/0 18830 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0088c0198t0002 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0089c0196t0002 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0090c0195t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0091c0193t0001 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0092c0191t0001 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0093c0192t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0094c0194t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0095c0197t0005 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0096c0199t0002 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0097c0201t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0098c0204t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0099c0061t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0100c0062t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0101c0063t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0102c0064t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0103c0065t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0104c0212t0002 0/0 14870 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0105c0211t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0106c0070t0001 0/0 14870 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0107c0234t0002 0/0 16355 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0108c0218t0002 0/0 15860 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0109c0222t0007 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0110c0221t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0111c0232t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0112c0227t0007 0/0 16355 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0113c0216t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0114c0225t0002 0/0 20315 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0115c0217t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0116c0229t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0117c0224t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0118c0230t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0119c0228t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0120c0214t0002 0/0 14870 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0121c0231t0002 0/0 16355 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0122c0213t0015 0/0 15860 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0123c0233t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0124c0071t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0125c0242t0003 0/0 17344 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0126c0240t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0127c0241t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0128c0239t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0129c0133t0001 0/0 18335 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0130c0075t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0131c0235t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0132c0236t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0133c0097t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0134c0096t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0135c0076t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0136c0140t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0137c0094t0001 0/0 17345 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0138c0095t0001 0/0 17345 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0139c0142t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0140c0093t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0141c0092t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0142c0085t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0143c0087t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0144c0238t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0145c0089t0001 0/0 18335 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0146c0090t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0147c0088t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0148c0081t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0149c0086t0002 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0150c0082t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0151c0145t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0152c0146t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0153c0147t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0154c0148t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0155c0084t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0156c0144t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0157c0080t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0158c0143t0001 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0159c0141t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0160c0078t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0161c0079t0012 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0162c0077t0001 0/0 18830 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0163c0098t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0164c0139t0001 0/0 16850 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0165c0100t0001 0/0 15860 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0166c0103t0001 0/0 15860 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0167c0101t0001 0/0 15365 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0168c0102t0001 0/0 15365 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0169c0237t0003 0/0 17839 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0170c0105t0002 0/0 16355 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0171c0107t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0172c0124t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0173c0114t0002 0/0 17840 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0174c0110t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0175c0116t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0176c0135t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0177c0119t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0178c0108t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0179c0121t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0180c0120t0002 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0181c0060t0001 0/0 17840 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0182c0128t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0183c0130t0002 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0184c0123t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0185c0126t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0186c0132t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0187c0131t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0188c0074t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0189c0073t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0190c0151t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0191c0150t0001 0/0 20315 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0192c0137t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0193c0138t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0194c0136t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0195c0243t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0196c0207t0002 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0197c0057t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0198c0152t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0199c0069t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0200c0153t0001 0/0 18335 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0201c0154t0001 0/0 18335 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0202c0068t0001 0/0 18335 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0203c0210t0003 0/0 18334 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0204c0053t0001 0/0 17840 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0205c0245t0002 0/0 15881 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0206c0066t0001 0/0 18335 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0207c0206t0002 0/0 18830 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0208c0056t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0209c0054t0003 0/0 18829 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0210c0055t0003 0/0 18830 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374
a0211c0247t0002 0/0 18830 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 copy fasta chr14 104932253 104983374

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0002g0001 0/1 6 0 2 0 3 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0001t0002g0012 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0001t0002g0051 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0001t0002g0053 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0001t0002g0056 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0003t0002g0002 0/0 5 0 5 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0003t0002g0055 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0003t0002g0060 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0003t0002g0264 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0001c0045t0002g0013 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0002t0001g0003 1/0 5 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0002t0001g0048 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0002t0001g0267 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0002t0001g0280 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0031t0001g0271 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0031t0001g0274 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0109t0001g0275 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0112t0008g0034 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0002c0113t0001g0278 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0008t0001g0086 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0008t0001g0100 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0008t0001g0120 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0008t0001g0130 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0033t0001g0022 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0115t0001g0125 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0117t0001g0126 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0129t0001g0104 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0134t0001g0106 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0003c0149t0001g0109 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0005t0004g0010 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0005t0004g0011 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0005t0004g0040 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0005t0004g0041 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0005t0004g0043 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0157t0004g0038 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0004c0158t0004g0039 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0013t0001g0083 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0013t0001g0095 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0013t0001g0202 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0025t0001g0015 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0027t0001g0266 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0027t0001g0282 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0067t0001g0129 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0005c0091t0001g0150 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0006c0006t0002g0005 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0006c0006t0002g0029 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0006c0006t0002g0163 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0006c0200t0002g0199 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0237 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0238 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0242 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0243 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0244 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0245 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0004t0001g0284 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0007c0104t0001g0239 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0008c0007t0001g0032 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0008c0007t0001g0033 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0008c0007t0001g0281 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0008c0007t0008g0037 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0009c0043t0002g0173 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0009c0043t0002g0194 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0009c0185t0002g0193 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0009c0186t0002g0195 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0010c0011t0002g0176 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0010c0011t0002g0179 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0010c0011t0002g0204 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0010c0011t0002g0219 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0011c0012t0002g0006 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0012c0036t0001g0026 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0012c0039t0001g0161 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0012c0039t0001g0190 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0013c0010t0001g0004 0/0 4 0 0 4 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0014c0009t0001g0025 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0014c0009t0001g0167 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0014c0009t0001g0171 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0015c0035t0002g0020 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0015c0122t0002g0102 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0015c0125t0002g0084 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0016c0041t0006g0036 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0016c0041t0006g0045 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0016c0160t0006g0044 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0017c0015t0002g0030 0/0 2 0 0 0 0 2 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0017c0015t0002g0162 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0018c0017t0005g0008 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0019c0016t0005g0028 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0019c0016t0005g0177 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0020c0018t0002g0009 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0021c0219t0002g0260 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0021c0220t0002g0263 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0021c0244t0002g0261 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0022c0044t0002g0057 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0022c0044t0002g0059 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0022c0215t0002g0224 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0023c0021t0001g0221 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0023c0021t0001g0222 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0023c0072t0001g0220 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0024c0014t0001g0007 0/0 3 0 0 3 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0025c0052t0002g0014 0/0 2 0 1 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0025c0248t0002g0063 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0026c0042t0002g0124 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0026c0042t0002g0295 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0027c0189t0002g0227 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0027c0190t0002g0228 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0028c0019t0009g0049 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0028c0019t0009g0050 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0029c0047t0002g0031 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0030c0223t0007g0255 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0030c0226t0007g0256 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0031c0046t0002g0250 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0031c0046t0002g0257 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0032c0050t0003g0136 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0032c0050t0003g0145 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0033c0022t0001g0285 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0033c0022t0001g0287 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0034c0048t0003g0023 0/0 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0035c0023t0002g0017 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0036c0030t0001g0018 0/0 2 2 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0037c0029t0001g0079 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0037c0029t0001g0294 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0038c0037t0001g0027 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0039c0028t0001g0214 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0039c0028t0014g0215 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0040c0038t0001g0174 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0040c0038t0001g0189 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0041c0083t0001g0216 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0041c0099t0001g0217 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0042c0026t0001g0021 0/0 2 0 0 2 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0043c0040t0001g0172 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0043c0040t0001g0191 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0044c0049t0003g0131 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0044c0049t0003g0133 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0045c0024t0001g0142 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0045c0024t0001g0143 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0046c0032t0002g0019 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0047c0106t0001g0273 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0047c0111t0001g0277 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0048c0034t0001g0054 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0048c0034t0011g0151 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0049c0118t0001g0099 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0049c0127t0001g0103 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0050c0020t0001g0016 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0051c0051t0001g0024 0/0 2 0 2 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0052c0208t0002g0231 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0052c0209t0002g0232 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0053c0246t0002g0074 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0054c0059t0001g0119 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0055c0205t0002g0069 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0056c0159t0004g0042 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0057c0156t0010g0046 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0058c0155t0004g0047 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0059c0161t0013g0128 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0060c0162t0006g0035 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0061c0166t0002g0293 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0062c0167t0002g0230 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0063c0168t0001g0248 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0064c0165t0001g0247 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0065c0203t0002g0201 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0066c0202t0005g0203 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0067c0058t0002g0302 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0068c0169t0002g0071 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0069c0184t0002g0209 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0070c0170t0002g0246 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0071c0177t0002g0144 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0072c0178t0002g0298 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0073c0171t0002g0140 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0074c0179t0003g0297 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0075c0164t0001g0301 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0076c0163t0001g0300 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0077c0182t0003g0170 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0078c0175t0002g0192 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0079c0183t0003g0164 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0080c0180t0002g0181 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0081c0173t0002g0180 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0082c0174t0003g0072 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0083c0176t0003g0073 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0084c0181t0002g0159 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0085c0172t0002g0296 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0086c0188t0002g0182 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0087c0187t0002g0208 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0088c0198t0002g0175 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0089c0196t0002g0198 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0090c0195t0002g0205 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0091c0193t0001g0160 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0092c0191t0001g0196 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0093c0192t0002g0197 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0094c0194t0002g0166 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0095c0197t0005g0178 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0096c0199t0002g0229 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0097c0201t0002g0200 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0098c0204t0002g0292 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0099c0061t0001g0091 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0100c0062t0002g0154 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0101c0063t0002g0155 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0102c0064t0003g0157 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0103c0065t0003g0156 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0104c0212t0002g0259 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0105c0211t0002g0061 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0106c0070t0001g0184 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0107c0234t0002g0252 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0108c0218t0002g0303 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0109c0222t0007g0254 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0110c0221t0002g0253 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0111c0232t0002g0066 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0112c0227t0007g0207 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0113c0216t0002g0058 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0114c0225t0002g0234 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0115c0217t0002g0064 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0116c0229t0002g0233 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0117c0224t0002g0249 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0118c0230t0002g0262 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0119c0228t0002g0258 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0120c0214t0002g0062 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0121c0231t0002g0251 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0122c0213t0015g0304 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0123c0233t0002g0299 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0124c0071t0001g0123 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0125c0242t0003g0137 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0126c0240t0003g0146 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0127c0241t0003g0138 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0128c0239t0003g0135 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0129c0133t0001g0052 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0130c0075t0002g0093 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0131c0235t0003g0132 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0132c0236t0003g0147 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0133c0097t0001g0116 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0134c0096t0001g0218 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0135c0076t0001g0213 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0136c0140t0001g0186 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0137c0094t0001g0111 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0138c0095t0001g0112 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0139c0142t0001g0127 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0140c0093t0001g0210 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0141c0092t0001g0096 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0142c0085t0001g0212 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0143c0087t0001g0085 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0144c0238t0003g0070 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0145c0089t0001g0080 0/0 1 0 0 0 1 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0146c0090t0001g0113 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0147c0088t0001g0082 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0148c0081t0001g0283 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0149c0086t0002g0081 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0150c0082t0001g0088 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0151c0145t0001g0165 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0152c0146t0001g0187 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0153c0147t0001g0188 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0154c0148t0001g0265 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0155c0084t0001g0211 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0156c0144t0001g0158 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0157c0080t0003g0121 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0158c0143t0001g0169 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0159c0141t0001g0108 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0160c0078t0001g0117 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0161c0079t0012g0141 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0162c0077t0001g0094 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0163c0098t0001g0122 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0164c0139t0001g0185 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0165c0100t0001g0240 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0166c0103t0001g0241 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0167c0101t0001g0235 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0168c0102t0001g0236 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0169c0237t0003g0139 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0170c0105t0002g0076 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0171c0107t0001g0097 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0172c0124t0001g0225 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0173c0114t0002g0288 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0174c0110t0001g0276 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0175c0116t0001g0152 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0176c0135t0001g0077 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0177c0119t0001g0089 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0178c0108t0001g0098 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0179c0121t0002g0101 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0180c0120t0002g0279 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0181c0060t0001g0272 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0182c0128t0002g0269 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0183c0130t0002g0105 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0184c0123t0001g0268 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0185c0126t0001g0291 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0186c0132t0001g0290 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0187c0131t0001g0289 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0188c0074t0001g0092 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0189c0073t0001g0087 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0190c0151t0001g0168 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0191c0150t0001g0090 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0192c0137t0001g0078 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0193c0138t0001g0075 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0194c0136t0001g0107 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0195c0243t0003g0148 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0196c0207t0002g0153 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0197c0057t0001g0068 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0198c0152t0001g0118 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0199c0069t0001g0226 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0200c0153t0001g0270 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0201c0154t0001g0110 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0202c0068t0001g0286 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0203c0210t0003g0149 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0204c0053t0001g0065 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0205c0245t0002g0067 0/0 1 0 1 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0206c0066t0001g0183 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0207c0206t0002g0223 0/0 1 0 0 0 0 1 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0208c0056t0003g0115 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0209c0054t0003g0134 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0210c0055t0003g0114 0/0 1 1 0 0 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
a0211c0247t0002g0206 0/0 1 0 0 1 0 0 AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0022 c0044 t0002 g0059 EUR GBR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00099 hp2 a0120 c0214 t0002 g0062 EUR GBR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00140 hp1 a0049 c0118 t0001 g0099 EUR GBR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00140 hp2 a0145 c0089 t0001 g0080 EUR GBR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00323 hp1 a0001 c0003 t0002 g0264 EUR FIN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00323 hp2 a0003 c0008 t0001 g0086 EUR FIN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00438 hp1 a0040 c0038 t0001 g0174 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00438 hp2 a0004 c0158 t0004 g0039 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00558 hp1 a0004 c0157 t0004 g0038 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00558 hp2 a0006 c0006 t0002 g0005 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00597 hp1 a0002 c0031 t0001 g0274 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00597 hp2 a0090 c0195 t0002 g0205 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00609 hp1 a0066 c0202 t0005 g0203 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00609 hp2 a0013 c0010 t0001 g0004 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00621 hp1 a0013 c0010 t0001 g0004 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00621 hp2 a0149 c0086 t0002 g0081 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00639 hp1 a0101 c0063 t0002 g0155 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00639 hp2 a0007 c0104 t0001 g0239 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00642 hp1 a0001 c0003 t0002 g0060 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00642 hp2 a0046 c0032 t0002 g0019 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00673 hp1 a0181 c0060 t0001 g0272 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00673 hp2 a0152 c0146 t0001 g0187 EAS CHS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00733 hp1 a0205 c0245 t0002 g0067 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00733 hp2 a0175 c0116 t0001 g0152 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00735 hp1 a0176 c0135 t0001 g0077 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00735 hp2 a0025 c0052 t0002 g0014 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00738 hp1 a0046 c0032 t0002 g0019 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00738 hp2 a0007 c0004 t0001 g0237 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00741 hp1 a0001 c0001 t0002 g0001 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG00741 hp2 a0105 c0211 t0002 g0061 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01071 hp1 a0052 c0208 t0002 g0231 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01071 hp2 a0001 c0001 t0002 g0012 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01074 hp1 a0039 c0028 t0001 g0214 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01074 hp2 a0123 c0233 t0002 g0299 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01081 hp1 a0052 c0209 t0002 g0232 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01081 hp2 a0001 c0003 t0002 g0002 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01099 hp1 a0016 c0160 t0006 g0044 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01099 hp2 a0072 c0178 t0002 g0298 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01106 hp1 a0003 c0134 t0001 g0106 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01106 hp2 a0113 c0216 t0002 g0058 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01109 hp1 a0167 c0101 t0001 g0235 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01109 hp2 a0025 c0248 t0002 g0063 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01167 hp1 a0051 c0051 t0001 g0024 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01167 hp2 a0081 c0173 t0002 g0180 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01168 hp1 a0005 c0025 t0001 g0015 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01168 hp2 a0059 c0161 t0013 g0128 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01169 hp1 a0051 c0051 t0001 g0024 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01169 hp2 a0005 c0025 t0001 g0015 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01175 hp1 a0178 c0108 t0001 g0098 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01175 hp2 a0084 c0181 t0002 g0159 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01192 hp1 a0007 c0004 t0001 g0284 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01192 hp2 a0134 c0096 t0001 g0218 AMR PUR AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01255 hp1 a0115 c0217 t0002 g0064 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01255 hp2 a0085 c0172 t0002 g0296 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01256 hp1 a0001 c0045 t0002 g0013 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01256 hp2 a0155 c0084 t0001 g0211 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01257 hp1 a0001 c0001 t0002 g0051 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01257 hp2 a0050 c0020 t0001 g0016 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01258 hp1 a0050 c0020 t0001 g0016 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01258 hp2 a0001 c0045 t0002 g0013 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01261 hp1 a0001 c0003 t0002 g0002 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01261 hp2 a0015 c0035 t0002 g0020 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01346 hp1 a0005 c0013 t0001 g0202 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01346 hp2 a0005 c0067 t0001 g0129 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01433 hp1 a0001 c0001 t0002 g0012 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01433 hp2 a0022 c0044 t0002 g0057 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01496 hp1 a0054 c0059 t0001 g0119 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01496 hp2 a0177 c0119 t0001 g0089 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01517 hp1 a0129 c0133 t0001 g0052 EUR IBS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01517 hp2 a0001 c0001 t0002 g0001 EUR IBS AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01884 hp1 a0061 c0166 t0002 g0293 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01884 hp2 a0076 c0163 t0001 g0300 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01891 hp1 a0001 c0001 t0002 g0053 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01891 hp2 a0099 c0061 t0001 g0091 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01928 hp1 a0165 c0100 t0001 g0240 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01928 hp2 a0168 c0102 t0001 g0236 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01934 hp1 a0041 c0083 t0001 g0216 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01934 hp2 a0048 c0034 t0011 g0151 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01952 hp1 a0007 c0004 t0001 g0238 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01952 hp2 a0015 c0122 t0002 g0102 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01975 hp1 a0015 c0125 t0002 g0084 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01975 hp2 a0001 c0001 t0002 g0001 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01978 hp1 a0200 c0153 t0001 g0270 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01978 hp2 a0007 c0004 t0001 g0242 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01981 hp1 a0001 c0003 t0002 g0002 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01981 hp2 a0039 c0028 t0014 g0215 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01993 hp1 a0182 c0128 t0002 g0269 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01993 hp2 a0041 c0099 t0001 g0217 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02004 hp1 a0183 c0130 t0002 g0105 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02004 hp2 a0135 c0076 t0001 g0213 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02015 hp1 a0192 c0137 t0001 g0078 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02015 hp2 a0104 c0212 t0002 g0259 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02027 hp1 a0035 c0023 t0002 g0017 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02027 hp2 a0027 c0190 t0002 g0228 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02040 hp1 a0002 c0002 t0001 g0280 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02040 hp2 a0097 c0201 t0002 g0200 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02055 hp1 a0037 c0029 t0001 g0079 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02055 hp2 a0083 c0176 t0003 g0073 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02056 hp1 a0020 c0018 t0002 g0009 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02056 hp2 a0042 c0026 t0001 g0021 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02074 hp1 a0202 c0068 t0001 g0286 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02074 hp2 a0142 c0085 t0001 g0212 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02080 hp1 a0002 c0109 t0001 g0275 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02080 hp2 a0017 c0015 t0002 g0162 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02083 hp1 a0006 c0006 t0002 g0005 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02083 hp2 a0007 c0004 t0001 g0243 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02129 hp1 a0021 c0220 t0002 g0263 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02129 hp2 a0013 c0010 t0001 g0004 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02132 hp1 a0027 c0189 t0002 g0227 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02132 hp2 a0023 c0021 t0001 g0221 EAS KHV AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02148 hp1 a0007 c0004 t0001 g0244 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02148 hp2 a0015 c0035 t0002 g0020 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02155 hp1 a0013 c0010 t0001 g0004 EAS CDX AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02155 hp2 a0023 c0021 t0001 g0222 EAS CDX AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02165 hp1 a0190 c0151 t0001 g0168 EAS CDX AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02165 hp2 a0021 c0219 t0002 g0260 EAS CDX AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02257 hp1 a0071 c0177 t0002 g0144 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02257 hp2 a0007 c0004 t0001 g0245 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02258 hp1 a0026 c0042 t0002 g0124 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02258 hp2 a0131 c0235 t0003 g0132 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02273 hp1 a0087 c0187 t0002 g0208 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02273 hp2 a0170 c0105 t0002 g0076 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02280 hp1 a0191 c0150 t0001 g0090 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02280 hp2 a0188 c0074 t0001 g0092 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02293 hp1 a0166 c0103 t0001 g0241 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02293 hp2 a0001 c0003 t0002 g0055 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02300 hp1 a0179 c0121 t0002 g0101 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02300 hp2 a0001 c0003 t0002 g0002 AMR PEL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02451 hp1 a0078 c0175 t0002 g0192 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02451 hp2 a0203 c0210 t0003 g0149 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02572 hp1 a0108 c0218 t0002 g0303 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02572 hp2 a0209 c0054 t0003 g0134 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02602 hp1 a0109 c0222 t0007 g0254 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02602 hp2 a0053 c0246 t0002 g0074 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02615 hp1 a0032 c0050 t0003 g0136 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02615 hp2 a0210 c0055 t0003 g0114 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02622 hp1 a0032 c0050 t0003 g0145 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02622 hp2 a0201 c0154 t0001 g0110 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02630 hp1 a0068 c0169 t0002 g0071 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02630 hp2 a0133 c0097 t0001 g0116 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02647 hp1 a0138 c0095 t0001 g0112 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02647 hp2 a0208 c0056 t0003 g0115 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02698 hp1 a0118 c0230 t0002 g0262 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02698 hp2 a0056 c0159 t0004 g0042 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02717 hp1 a0073 c0171 t0002 g0140 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02717 hp2 a0075 c0164 t0001 g0301 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02723 hp1 a0126 c0240 t0003 g0146 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02723 hp2 a0204 c0053 t0001 g0065 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02735 hp1 a0049 c0127 t0001 g0103 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02735 hp2 a0016 c0041 t0006 g0036 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02738 hp1 a0110 c0221 t0002 g0253 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02738 hp2 a0096 c0199 t0002 g0229 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02809 hp1 a0137 c0094 t0001 g0111 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02809 hp2 a0098 c0204 t0002 g0292 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02896 hp1 a0028 c0019 t0009 g0049 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02896 hp2 a0044 c0049 t0003 g0133 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02897 hp1 a0044 c0049 t0003 g0131 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02897 hp2 a0028 c0019 t0009 g0050 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02922 hp1 a0036 c0030 t0001 g0018 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02922 hp2 a0197 c0057 t0001 g0068 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02965 hp1 a0189 c0073 t0001 g0087 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02965 hp2 a0150 c0082 t0001 g0088 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02976 hp1 a0102 c0064 t0003 g0157 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02976 hp2 a0130 c0075 t0002 g0093 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03017 hp1 a0147 c0088 t0001 g0082 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03017 hp2 a0089 c0196 t0002 g0198 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03041 hp1 a0160 c0078 t0001 g0117 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03041 hp2 a0026 c0042 t0002 g0295 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03098 hp1 a0079 c0183 t0003 g0164 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03098 hp2 a0034 c0048 t0003 g0023 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03130 hp1 a0064 c0165 t0001 g0247 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03130 hp2 a0159 c0141 t0001 g0108 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03139 hp1 a0045 c0024 t0001 g0143 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03139 hp2 a0037 c0029 t0001 g0294 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03195 hp1 a0141 c0092 t0001 g0096 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03195 hp2 a0080 c0180 t0002 g0181 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03209 hp1 a0070 c0170 t0002 g0246 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03209 hp2 a0036 c0030 t0001 g0018 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03225 hp1 a0195 c0243 t0003 g0148 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03225 hp2 a0169 c0237 t0003 g0139 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03453 hp1 a0062 c0167 t0002 g0230 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03453 hp2 a0163 c0098 t0001 g0122 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03486 hp1 a0144 c0238 t0003 g0070 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03486 hp2 a0157 c0080 t0003 g0121 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03491 hp1 a0031 c0046 t0002 g0250 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03491 hp2 a0005 c0013 t0001 g0083 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03492 hp1 a0031 c0046 t0002 g0257 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03492 hp2 a0207 c0206 t0002 g0223 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03516 hp1 a0146 c0090 t0001 g0113 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03516 hp2 a0161 c0079 t0012 g0141 AFR ESN AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03540 hp1 a0034 c0048 t0003 g0023 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03540 hp2 a0112 c0227 t0007 g0207 AFR GWD AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03654 hp1 a0022 c0215 t0002 g0224 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03654 hp2 a0121 c0231 t0002 g0251 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03669 hp1 a0172 c0124 t0001 g0225 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03669 hp2 a0117 c0224 t0002 g0249 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03688 hp1 a0114 c0225 t0002 g0234 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03688 hp2 a0119 c0228 t0002 g0258 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03704 hp1 a0025 c0052 t0002 g0014 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03704 hp2 a0206 c0066 t0001 g0183 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03710 hp1 a0005 c0027 t0001 g0282 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03710 hp2 a0004 c0005 t0004 g0043 SAS PJL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03834 hp1 a0016 c0041 t0006 g0045 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03834 hp2 a0088 c0198 t0002 g0175 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03927 hp1 a0194 c0136 t0001 g0107 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03927 hp2 a0017 c0015 t0002 g0030 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03942 hp1 a0086 c0188 t0002 g0182 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03942 hp2 a0065 c0203 t0002 g0201 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04115 hp1 a0030 c0226 t0007 g0256 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04115 hp2 a0017 c0015 t0002 g0030 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04184 hp1 a0001 c0001 t0002 g0056 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04184 hp2 a0136 c0140 t0001 g0186 SAS BEB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04228 hp1 a0060 c0162 t0006 g0035 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG04228 hp2 a0111 c0232 t0002 g0066 SAS STU AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18522 hp1 a0128 c0239 t0003 g0135 AFR YRI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18522 hp2 a0082 c0174 t0003 g0072 AFR YRI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18612 hp1 a0002 c0002 t0001 g0003 EAS CHB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18612 hp2 a0008 c0007 t0008 g0037 EAS CHB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18747 hp1 a0003 c0129 t0001 g0104 EAS CHB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18747 hp2 a0023 c0072 t0001 g0220 EAS CHB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18906 hp1 a0045 c0024 t0001 g0142 AFR YRI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18906 hp2 a0132 c0236 t0003 g0147 AFR YRI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18940 hp1 a0003 c0008 t0001 g0100 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18940 hp2 a0021 c0244 t0002 g0261 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18941 hp1 a0042 c0026 t0001 g0021 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18941 hp2 a0006 c0006 t0002 g0163 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18943 hp1 a0002 c0002 t0001 g0003 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18943 hp2 a0043 c0040 t0001 g0191 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18945 hp1 a0038 c0037 t0001 g0027 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18945 hp2 a0019 c0016 t0005 g0028 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18948 hp1 a0171 c0107 t0001 g0097 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18948 hp2 a0018 c0017 t0005 g0008 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18950 hp1 a0140 c0093 t0001 g0210 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18950 hp2 a0151 c0145 t0001 g0165 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18951 hp1 a0057 c0156 t0010 g0046 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18951 hp2 a0184 c0123 t0001 g0268 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18952 hp1 a0010 c0011 t0002 g0179 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18952 hp2 a0003 c0033 t0001 g0022 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18953 hp1 a0107 c0234 t0002 g0252 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18953 hp2 a0153 c0147 t0001 g0188 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18954 hp1 a0020 c0018 t0002 g0009 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18954 hp2 a0198 c0152 t0001 g0118 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18956 hp1 a0199 c0069 t0001 g0226 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18956 hp2 a0004 c0005 t0004 g0041 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18959 hp1 a0014 c0009 t0001 g0167 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18959 hp2 a0010 c0011 t0002 g0219 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18961 hp1 a0014 c0009 t0001 g0025 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18961 hp2 a0187 c0131 t0001 g0289 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18963 hp1 a0038 c0037 t0001 g0027 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18963 hp2 a0047 c0106 t0001 g0273 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18964 hp1 a0185 c0126 t0001 g0291 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18964 hp2 a0010 c0011 t0002 g0176 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18966 hp1 a0010 c0011 t0002 g0204 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18966 hp2 a0211 c0247 t0002 g0206 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18967 hp1 a0002 c0031 t0001 g0271 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18967 hp2 a0014 c0009 t0001 g0025 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18968 hp1 a0005 c0013 t0001 g0095 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18968 hp2 a0093 c0192 t0002 g0197 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18969 hp1 a0094 c0194 t0002 g0166 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18969 hp2 a0002 c0002 t0001 g0267 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18970 hp1 a0058 c0155 t0004 g0047 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18970 hp2 a0003 c0115 t0001 g0125 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18977 hp1 a0002 c0002 t0001 g0003 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18977 hp2 a0018 c0017 t0005 g0008 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18980 hp1 a0139 c0142 t0001 g0127 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18980 hp2 a0143 c0087 t0001 g0085 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18981 hp1 a0004 c0005 t0004 g0011 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18981 hp2 a0035 c0023 t0002 g0017 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18983 hp1 a0012 c0039 t0001 g0161 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18983 hp2 a0012 c0036 t0001 g0026 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18984 hp1 a0047 c0111 t0001 g0277 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18984 hp2 a0006 c0200 t0002 g0199 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18986 hp1 a0009 c0186 t0002 g0195 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18986 hp2 a0002 c0113 t0001 g0278 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18995 hp1 a0092 c0191 t0001 g0196 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18995 hp2 a0008 c0007 t0001 g0033 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18998 hp1 a0040 c0038 t0001 g0189 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18998 hp2 a0019 c0016 t0005 g0028 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18999 hp1 a0012 c0036 t0001 g0026 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA18999 hp2 a0173 c0114 t0002 g0288 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19000 hp1 a0024 c0014 t0001 g0007 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19000 hp2 a0164 c0139 t0001 g0185 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19002 hp1 a0011 c0012 t0002 g0006 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19002 hp2 a0091 c0193 t0001 g0160 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19004 hp1 a0002 c0002 t0001 g0003 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19004 hp2 a0011 c0012 t0002 g0006 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19005 hp1 a0095 c0197 t0005 g0178 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19005 hp2 a0004 c0005 t0004 g0010 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19007 hp1 a0024 c0014 t0001 g0007 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19007 hp2 a0006 c0006 t0002 g0005 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19009 hp1 a0006 c0006 t0002 g0029 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19009 hp2 a0033 c0022 t0001 g0287 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19010 hp1 a0003 c0033 t0001 g0022 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19010 hp2 a0006 c0006 t0002 g0005 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19011 hp1 a0009 c0185 t0002 g0193 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19011 hp2 a0024 c0014 t0001 g0007 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19012 hp1 a0186 c0132 t0001 g0290 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19012 hp2 a0020 c0018 t0002 g0009 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19030 hp1 a0067 c0058 t0002 g0302 AFR LWK AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19030 hp2 a0100 c0062 t0002 g0154 AFR LWK AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19043 hp1 a0124 c0071 t0001 g0123 AFR LWK AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19043 hp2 a0122 c0213 t0015 g0304 AFR LWK AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19055 hp1 a0043 c0040 t0001 g0172 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19055 hp2 a0011 c0012 t0002 g0006 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19058 hp1 a0003 c0008 t0001 g0120 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19058 hp2 a0019 c0016 t0005 g0177 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19063 hp1 a0009 c0043 t0002 g0194 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19063 hp2 a0008 c0007 t0001 g0032 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19065 hp1 a0006 c0006 t0002 g0029 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19065 hp2 a0106 c0070 t0001 g0184 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19070 hp1 a0012 c0039 t0001 g0190 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19070 hp2 a0004 c0005 t0004 g0010 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19074 hp1 a0009 c0043 t0002 g0173 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19074 hp2 a0004 c0005 t0004 g0040 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19076 hp1 a0004 c0005 t0004 g0011 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19076 hp2 a0158 c0143 t0001 g0169 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19077 hp1 a0156 c0144 t0001 g0158 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19077 hp2 a0003 c0117 t0001 g0126 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19079 hp1 a0008 c0007 t0001 g0033 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19079 hp2 a0002 c0112 t0008 g0034 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19081 hp1 a0002 c0002 t0001 g0048 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19081 hp2 a0018 c0017 t0005 g0008 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19084 hp1 a0008 c0007 t0001 g0032 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19084 hp2 a0029 c0047 t0002 g0031 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19085 hp1 a0174 c0110 t0001 g0276 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19085 hp2 a0014 c0009 t0001 g0171 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19088 hp1 a0008 c0007 t0001 g0281 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19088 hp2 a0011 c0012 t0002 g0006 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19090 hp1 a0033 c0022 t0001 g0285 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19090 hp2 a0029 c0047 t0002 g0031 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19091 hp1 a0154 c0148 t0001 g0265 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA19091 hp2 a0003 c0149 t0001 g0109 EAS JPT AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20129 hp1 a0069 c0184 t0002 g0209 AFR ASW AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20129 hp2 a0074 c0179 t0003 g0297 AFR ASW AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20752 hp1 a0001 c0001 t0002 g0001 EUR TSI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20752 hp2 a0003 c0008 t0001 g0130 EUR TSI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20805 hp1 a0005 c0027 t0001 g0266 EUR TSI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20805 hp2 a0001 c0001 t0002 g0001 EUR TSI AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20905 hp1 a0116 c0229 t0002 g0233 SAS GIH AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20905 hp2 a0030 c0223 t0007 g0255 SAS GIH AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01123 hp1 a0001 c0003 t0002 g0002 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG01123 hp2 a0048 c0034 t0001 g0054 AMR CLM AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02109 hp1 a0055 c0205 t0002 g0069 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02109 hp2 a0005 c0091 t0001 g0150 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02486 hp1 a0193 c0138 t0001 g0075 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02486 hp2 a0196 c0207 t0002 g0153 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02559 hp1 a0148 c0081 t0001 g0283 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG02559 hp2 a0127 c0241 t0003 g0138 AFR ACB AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03471 hp1 a0077 c0182 t0003 g0170 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG03471 hp2 a0162 c0077 t0001 g0094 AFR MSL AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG06807 hp1 a0063 c0168 t0001 g0248 AFR USA AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
HG06807 hp2 a0125 c0242 t0003 g0137 AFR USA AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20300 hp1 a0180 c0120 t0002 g0279 AFR USA AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
NA20300 hp2 a0103 c0065 t0003 g0156 AFR USA AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0001 REF REF AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374
homoSapiens_grch38 hp1 a0002 c0002 t0001 g0003 REF REF AHNAK2_chr14_104932253_104983374 AHNAK2 chr14 104932253 104983374

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
chr14:104938197 C
C
 T
T
 3 a0061
a0062
a0098
a0061
a0062
a0098
 3 HG01884.hp1
HG02809.hp2
HG03453.hp1
HG01884.hp1
HG02809.hp2
HG03453.hp1
 missense_variant MODERATE c.17254G>A
c.17254G>A
 p.Gly5752Arg
p.Gly5752Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 17391/18335 17254/17388 5752/5795 chr14 104938197
chr14:104938256 G
G
 A
A
 5 a0036
a0064
a0133
others(2): Show 
a0036
a0064
a0133
a0191
a0204
 6 HG02280.hp1
HG02630.hp2
HG02723.hp2
others(3): Show 
HG02280.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
 missense_variant MODERATE c.17195C>T
c.17195C>T
 p.Thr5732Met
p.Thr5732Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 17332/18335 17195/17388 5732/5795 chr14 104938256
chr14:104938518 G
G
 A
A
 1 a0105
a0105
 1 HG00741.hp2
HG00741.hp2
 missense_variant MODERATE c.16933C>T
c.16933C>T
 p.Leu5645Phe
p.Leu5645Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 17070/18335 16933/17388 5645/5795 chr14 104938518
chr14:104938523 C
C
 A
A
 1 a0211
a0211
 1 NA18966.hp2
NA18966.hp2
 missense_variant MODERATE c.16928G>T
c.16928G>T
 p.Gly5643Val
p.Gly5643Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 17065/18335 16928/17388 5643/5795 chr14 104938523
chr14:104938607 G
G
 A
A
 1 a0176
a0176
 1 HG00735.hp1
HG00735.hp1
 missense_variant MODERATE c.16844C>T
c.16844C>T
 p.Pro5615Leu
p.Pro5615Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16981/18335 16844/17388 5615/5795 chr14 104938607
chr14:104938739 C
C
 G
G
 1 a0093
a0093
 1 NA18968.hp2
NA18968.hp2
 missense_variant MODERATE c.16712G>C
c.16712G>C
 p.Gly5571Ala
p.Gly5571Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16849/18335 16712/17388 5571/5795 chr14 104938739
chr14:104938943 T
T
 A
A
 1 a0168
a0168
 1 HG01928.hp2
HG01928.hp2
 missense_variant MODERATE c.16508A>T
c.16508A>T
 p.Glu5503Val
p.Glu5503Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16645/18335 16508/17388 5503/5795 chr14 104938943
chr14:104939262 G
G
 C
C
 117 a0001
a0004
a0006
others(114): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 192 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(189): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.16189C>G
c.16189C>G
 p.Pro5397Ala
p.Pro5397Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16326/18335 16189/17388 5397/5795 chr14 104939262
chr14:104939687 G
G
 C
C
 1 a0196
a0196
 1 HG02486.hp2
HG02486.hp2
 missense_variant MODERATE c.15764C>G
c.15764C>G
 p.Ala5255Gly
p.Ala5255Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15901/18335 15764/17388 5255/5795 chr14 104939687
chr14:104939864 C
C
 T
T
 1 a0108
a0108
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.15587G>A
c.15587G>A
 p.Arg5196His
p.Arg5196His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15724/18335 15587/17388 5196/5795 chr14 104939864
chr14:104939898 A
A
 C
C
 1 a0049
a0049
 2 HG00140.hp1
HG02735.hp1
HG00140.hp1
HG02735.hp1
 missense_variant MODERATE c.15553T>G
c.15553T>G
 p.Ser5185Ala
p.Ser5185Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15690/18335 15553/17388 5185/5795 chr14 104939898
chr14:104939901 A
A
 C
C
 125 a0001
a0004
a0006
others(122): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
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
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0191
a0195
a0196
a0197
a0203
a0204
a0205
a0207
a0208
a0209
a0210
a0211
 201 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(198): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.15550T>G
c.15550T>G
 p.Tyr5184Asp
p.Tyr5184Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15687/18335 15550/17388 5184/5795 chr14 104939901
chr14:104940035 C
C
 T
T
 41 a0001
a0011
a0021
others(38): Show 
a0001
a0011
a0021
a0022
a0025
a0026
a0029
a0030
a0031
a0052
a0055
a0061
a0062
a0065
a0068
a0071
a0072
a0073
a0085
a0098
a0100
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0196
a0205
 75 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(72): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02109.hp1
HG02129.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02738.hp1
HG02809.hp2
HG03041.hp2
HG03453.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.15416G>A
c.15416G>A
 p.Gly5139Glu
p.Gly5139Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15553/18335 15416/17388 5139/5795 chr14 104940035
chr14:104940237 C
C
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.15214G>A
c.15214G>A
 p.Gly5072Arg
p.Gly5072Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15351/18335 15214/17388 5072/5795 chr14 104940237
chr14:104940916 G
G
 T
T
 5 a0137
a0138
a0141
others(2): Show 
a0137
a0138
a0141
a0188
a0189
 5 HG02280.hp2
HG02647.hp1
HG02809.hp1
others(2): Show 
HG02280.hp2
HG02647.hp1
HG02809.hp1
HG02965.hp1
HG03195.hp1
 missense_variant MODERATE c.14535C>A
c.14535C>A
 p.His4845Gln
p.His4845Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14672/18335 14535/17388 4845/5795 chr14 104940916
chr14:104940990 G
G
 A
A
 6 a0004
a0016
a0056
others(3): Show 
a0004
a0016
a0056
a0058
a0059
a0060
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.14461C>T
c.14461C>T
 p.Pro4821Ser
p.Pro4821Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14598/18335 14461/17388 4821/5795 chr14 104940990
chr14:104941188 G
G
 A
A
 6 a0004
a0016
a0056
others(3): Show 
a0004
a0016
a0056
a0058
a0059
a0060
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.14263C>T
c.14263C>T
 p.Pro4755Ser
p.Pro4755Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14400/18335 14263/17388 4755/5795 chr14 104941188
chr14:104941264 T
T
 C
C
 1 a0177
a0177
 1 HG01496.hp2
HG01496.hp2
 missense_variant MODERATE c.14187A>G
c.14187A>G
 p.Ile4729Met
p.Ile4729Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14324/18335 14187/17388 4729/5795 chr14 104941264
chr14:104941329 T
T
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.14122A>G
c.14122A>G
 p.Lys4708Glu
p.Lys4708Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14259/18335 14122/17388 4708/5795 chr14 104941329
chr14:104941339 A
A
 C
C
 1 a0098
a0098
 1 HG02809.hp2
HG02809.hp2
 missense_variant MODERATE c.14112T>G
c.14112T>G
 p.Phe4704Leu
p.Phe4704Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14249/18335 14112/17388 4704/5795 chr14 104941339
chr14:104941461 T
T
 C
C
 116 a0001
a0004
a0006
others(113): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.13990A>G
c.13990A>G
 p.Thr4664Ala
p.Thr4664Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14127/18335 13990/17388 4664/5795 chr14 104941461
chr14:104941593 C
C
 A
A
 1 a0130
a0130
 1 HG02976.hp2
HG02976.hp2
 missense_variant MODERATE c.13858G>T
c.13858G>T
 p.Asp4620Tyr
p.Asp4620Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13995/18335 13858/17388 4620/5795 chr14 104941593
chr14:104941628 G
G
 A
A
 1 a0208
a0208
 1 HG02647.hp2
HG02647.hp2
 missense_variant MODERATE c.13823C>T
c.13823C>T
 p.Ala4608Val
p.Ala4608Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13960/18335 13823/17388 4608/5795 chr14 104941628
chr14:104941640 A
A
 G
G
 6 a0039
a0041
a0134
others(3): Show 
a0039
a0041
a0134
a0135
a0140
a0155
 8 HG01074.hp1
HG01192.hp2
HG01256.hp2
others(5): Show 
HG01074.hp1
HG01192.hp2
HG01256.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
NA18950.hp1
 missense_variant MODERATE c.13811T>C
c.13811T>C
 p.Met4604Thr
p.Met4604Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13948/18335 13811/17388 4604/5795 chr14 104941640
chr14:104941845 T
T
 G
G
 108 a0001
a0006
a0009
others(105): Show 
a0001
a0006
a0009
a0010
a0011
a0015
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0057
a0061
a0062
a0065
a0066
a0067
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 172 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(169): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.13606A>C
c.13606A>C
 p.Met4536Leu
p.Met4536Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13743/18335 13606/17388 4536/5795 chr14 104941845
chr14:104941997 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.13454C>T
c.13454C>T
 p.Ser4485Leu
p.Ser4485Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13591/18335 13454/17388 4485/5795 chr14 104941997
chr14:104941998 A
A
 G
G
 1 a0010
a0010
 4 NA18952.hp1
NA18959.hp2
NA18964.hp2
others(1): Show 
NA18952.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
 missense_variant MODERATE c.13453T>C
c.13453T>C
 p.Ser4485Pro
p.Ser4485Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13590/18335 13453/17388 4485/5795 chr14 104941998
chr14:104942004 C
C
 T
T
 3 a0061
a0062
a0098
a0061
a0062
a0098
 3 HG01884.hp1
HG02809.hp2
HG03453.hp1
HG01884.hp1
HG02809.hp2
HG03453.hp1
 missense_variant MODERATE c.13447G>A
c.13447G>A
 p.Glu4483Lys
p.Glu4483Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13584/18335 13447/17388 4483/5795 chr14 104942004
chr14:104942038 TGGCATCT
others(488): Show 
TGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGT
CCTTGTCAGCCAGGGACAGGTCCCCCTCCAGCCGCGTACTGTCCAGCTTG
GCTCCTGGGGCTTGGATGTCCACCTCCATGCTGGGCAGAGACACGTCCAG
GTTGGGGGACGTCACCTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGA
CATTAACGTCTATCTGGGGACCCTTGAGGTCCACTTTGGGTACCTTGAAA
CTGGGCATCTGCAGCTTCGGCAGGTGCCCTTTGAGGCCGGCTCCCTCATG
CACAGGGCCCTCTGGGAGTTTCACATCCTCTTGGCCAGCCTGGACCTCCA
GATCAGCGGAAGGGGGCTGAATGCTGAGGTGAGTGGTCTTCAGGTCCCCC
TGCATGGAGGGGAGGCTCACGTCAGCCTCCACCTTCAGCGCAGACACATC
CAACGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGAC
 T
T
 1 a0073
a0073
 1 HG02717.hp1
HG02717.hp1
 disruptive_inframe_deletion MODERATE c.12918_13412del
c.12918_13412del
 p.Ser4307_Pro4471del
p.Ser4307_Pro4471del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13549/18335 12918/17388 4306/5795 chr14 104942038
chr14:104942093 T
T
 A
A
 1 a0130
a0130
 1 HG02976.hp2
HG02976.hp2
 missense_variant MODERATE c.13358A>T
c.13358A>T
 p.Asp4453Val
p.Asp4453Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13495/18335 13358/17388 4453/5795 chr14 104942093
chr14:104942125 A
A
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.13326T>G
c.13326T>G
 p.Ser4442Arg
p.Ser4442Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13463/18335 13326/17388 4442/5795 chr14 104942125
chr14:104942183 T
T
 A
A
 2 a0037
a0150
a0037
a0150
 3 HG02055.hp1
HG02965.hp2
HG03139.hp2
HG02055.hp1
HG02965.hp2
HG03139.hp2
 missense_variant MODERATE c.13268A>T
c.13268A>T
 p.Asp4423Val
p.Asp4423Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13405/18335 13268/17388 4423/5795 chr14 104942183
chr14:104942416 G
G
 C
C
 1 a0069
a0069
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.13035C>G
c.13035C>G
 p.His4345Gln
p.His4345Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13172/18335 13035/17388 4345/5795 chr14 104942416
chr14:104942468 A
A
 G
G
 1 a0020
a0020
 3 HG02056.hp1
NA18954.hp1
NA19012.hp2
HG02056.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.12983T>C
c.12983T>C
 p.Val4328Ala
p.Val4328Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13120/18335 12983/17388 4328/5795 chr14 104942468
chr14:104942474 A
A
 G
G
 114 a0001
a0004
a0006
others(111): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0028
a0030
a0031
a0032
a0035
a0036
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0133
a0144
a0149
a0157
a0161
a0169
a0170
a0179
a0180
a0182
a0183
a0191
a0196
a0203
a0204
a0205
a0207
a0208
a0209
a0210
a0211
 187 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(184): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.12977T>C
c.12977T>C
 p.Leu4326Pro
p.Leu4326Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13114/18335 12977/17388 4326/5795 chr14 104942474
chr14:104942477 G
G
 A
A
 2 a0063
a0159
a0063
a0159
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 missense_variant MODERATE c.12974C>T
c.12974C>T
 p.Ala4325Val
p.Ala4325Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13111/18335 12974/17388 4325/5795 chr14 104942477
chr14:104942490 A
A
 C
C
 108 a0001
a0004
a0006
others(105): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0028
a0030
a0031
a0032
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0144
a0149
a0157
a0161
a0169
a0170
a0179
a0180
a0182
a0183
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 180 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(177): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19088.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.12961T>G
c.12961T>G
 p.Leu4321Val
p.Leu4321Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13098/18335 12961/17388 4321/5795 chr14 104942490
chr14:104942618 A
A
 G
G
 121 a0001
a0004
a0006
others(118): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0191
a0195
a0196
a0203
a0204
a0205
a0207
a0208
a0209
a0210
a0211
 197 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(194): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.12833T>C
c.12833T>C
 p.Val4278Ala
p.Val4278Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12970/18335 12833/17388 4278/5795 chr14 104942618
chr14:104942682 C
C
 T
T
 1 a0100
a0100
 1 NA19030.hp2
NA19030.hp2
 missense_variant MODERATE c.12769G>A
c.12769G>A
 p.Val4257Met
p.Val4257Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12906/18335 12769/17388 4257/5795 chr14 104942682
chr14:104942702 G
G
 A
A
 1 a0183
a0183
 1 HG02004.hp1
HG02004.hp1
 missense_variant MODERATE c.12749C>T
c.12749C>T
 p.Ala4250Val
p.Ala4250Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12886/18335 12749/17388 4250/5795 chr14 104942702
chr14:104942846 G
G
 A
A
 1 a0042
a0042
 2 HG02056.hp2
NA18941.hp1
HG02056.hp2
NA18941.hp1
 missense_variant MODERATE c.12605C>T
c.12605C>T
 p.Pro4202Leu
p.Pro4202Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12742/18335 12605/17388 4202/5795 chr14 104942846
chr14:104943018 C
C
 T
T
 2 a0055
a0205
a0055
a0205
 2 HG00733.hp1
HG02109.hp1
HG00733.hp1
HG02109.hp1
 missense_variant MODERATE c.12433G>A
c.12433G>A
 p.Val4145Met
p.Val4145Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12570/18335 12433/17388 4145/5795 chr14 104943018
chr14:104943146 T
T
 A
A
 1 a0068
a0068
 1 HG02630.hp1
HG02630.hp1
 missense_variant MODERATE c.12305A>T
c.12305A>T
 p.Asp4102Val
p.Asp4102Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12442/18335 12305/17388 4102/5795 chr14 104943146
chr14:104943392 G
G
 A
A
 1 a0115
a0115
 1 HG01255.hp1
HG01255.hp1
 missense_variant MODERATE c.12059C>T
c.12059C>T
 p.Pro4020Leu
p.Pro4020Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12196/18335 12059/17388 4020/5795 chr14 104943392
chr14:104943471 T
T
 A
A
 2 a0028
a0086
a0028
a0086
 3 HG02896.hp1
HG02897.hp2
HG03942.hp1
HG02896.hp1
HG02897.hp2
HG03942.hp1
 missense_variant MODERATE c.11980A>T
c.11980A>T
 p.Thr3994Ser
p.Thr3994Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12117/18335 11980/17388 3994/5795 chr14 104943471
chr14:104943485 G
G
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11966C>A
c.11966C>A
 p.Ala3989Glu
p.Ala3989Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12103/18335 11966/17388 3989/5795 chr14 104943485
chr14:104943492 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11959A>G
c.11959A>G
 p.Met3987Val
p.Met3987Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12096/18335 11959/17388 3987/5795 chr14 104943492
chr14:104943566 G
G
 A
A
 3 a0036
a0133
a0191
a0036
a0133
a0191
 4 HG02280.hp1
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02280.hp1
HG02630.hp2
HG02922.hp1
HG03209.hp2
 missense_variant MODERATE c.11885C>T
c.11885C>T
 p.Thr3962Met
p.Thr3962Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12022/18335 11885/17388 3962/5795 chr14 104943566
chr14:104943570 T
T
 C
C
 30 a0001
a0011
a0021
others(27): Show 
a0001
a0011
a0021
a0022
a0025
a0028
a0029
a0030
a0031
a0052
a0065
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0209
 64 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(61): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG02896.hp1
HG02897.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.11881A>G
c.11881A>G
 p.Met3961Val
p.Met3961Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12018/18335 11881/17388 3961/5795 chr14 104943570
chr14:104943605 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11846G>A
c.11846G>A
 p.Arg3949Gln
p.Arg3949Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11983/18335 11846/17388 3949/5795 chr14 104943605
chr14:104943608 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11843C>T
c.11843C>T
 p.Ala3948Val
p.Ala3948Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11980/18335 11843/17388 3948/5795 chr14 104943608
chr14:104943627 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11824G>A
c.11824G>A
 p.Gly3942Arg
p.Gly3942Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11961/18335 11824/17388 3942/5795 chr14 104943627
chr14:104943636 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11815G>C
c.11815G>C
 p.Glu3939Gln
p.Glu3939Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11952/18335 11815/17388 3939/5795 chr14 104943636
chr14:104943651 C
C
 T
T
 2 a0028
a0047
a0028
a0047
 4 HG02896.hp1
HG02897.hp2
NA18963.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
NA18963.hp2
NA18984.hp1
 missense_variant MODERATE c.11800G>A
c.11800G>A
 p.Val3934Met
p.Val3934Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11937/18335 11800/17388 3934/5795 chr14 104943651
chr14:104943657 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11794C>T
c.11794C>T
 p.Pro3932Ser
p.Pro3932Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11931/18335 11794/17388 3932/5795 chr14 104943657
chr14:104943666 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11785G>A
c.11785G>A
 p.Val3929Ile
p.Val3929Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11922/18335 11785/17388 3929/5795 chr14 104943666
chr14:104943669 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.11782G>A
c.11782G>A
 p.Glu3928Lys
p.Glu3928Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11919/18335 11782/17388 3928/5795 chr14 104943669
chr14:104943683 G
G
 A
A
 3 a0061
a0062
a0098
a0061
a0062
a0098
 3 HG01884.hp1
HG02809.hp2
HG03453.hp1
HG01884.hp1
HG02809.hp2
HG03453.hp1
 missense_variant MODERATE c.11768C>T
c.11768C>T
 p.Thr3923Ile
p.Thr3923Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11905/18335 11768/17388 3923/5795 chr14 104943683
chr14:104943691 CACCTTGG
others(983): Show 
CACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAG
GGCCCTTGAGGTCGACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG
GGCAGGTGTCCTTTGAGGCCGGCTTCCTCGGGCACGTGGCCCTCCAGGAG
TTTCATGTCCACCTGGCGAGCTTGGACCGTCAGGTCGGCAGAATGGGGCT
GAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTC
ACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCTCAATGGA
CTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTGGGCATTT
TGAATTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCC
CCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGACGTCCAC
CTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCT
TGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC
TTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAG
GTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCA
CATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATG
CTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACATC
GGCTTCCACCTTGGGTGCAGACACATCCACCGAGGCCTCCATGGACTTCC
CTGGGGCCGATACCCTGAATGACGGCATCTTGAATTTGGGCATTTTGAAC
TTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCTCCCTC
CAGCCGCCCAGCATCCAGCTTGGCCTTCGGGGCCTGGACATCCACCTCCA
CGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCT
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 disruptive_inframe_deletion MODERATE c.10770_11759del
c.10770_11759del
 p.Glu3591_Val3920del
p.Glu3591_Val3920del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11896/18335 10770/17388 3590/5795 chr14 104943691
chr14:104943692 A
A
 G
G
 1 a0196
a0196
 1 HG02486.hp2
HG02486.hp2
 missense_variant MODERATE c.11759T>C
c.11759T>C
 p.Val3920Ala
p.Val3920Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11896/18335 11759/17388 3920/5795 chr14 104943692
chr14:104943745 C
C
 G
G
 5 a0036
a0064
a0133
others(2): Show 
a0036
a0064
a0133
a0191
a0204
 6 HG02280.hp1
HG02630.hp2
HG02723.hp2
others(3): Show 
HG02280.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
 missense_variant MODERATE c.11706G>C
c.11706G>C
 p.Lys3902Asn
p.Lys3902Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11843/18335 11706/17388 3902/5795 chr14 104943745
chr14:104943846 T
T
 C
C
 116 a0001
a0004
a0006
others(113): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 190 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(187): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.11605A>G
c.11605A>G
 p.Met3869Val
p.Met3869Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11742/18335 11605/17388 3869/5795 chr14 104943846
chr14:104943884 T
T
 TGGGGCTG
others(488): Show 
TGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG
GAGACTCACATCGGCCTCCACCTTGGGTGCAGACACGTGCACCGAGGCCT
CAATGGACTTGCCTGGGGCAGACACCCCAAATGACGGCATCTTGAACTTG
GGCATTTTGAATTTGCTGTCTTTGGCAGTCACATCCTTGTTGGCCAGGGA
CAGGTCCCCCTCCAGCTGTGCACTATCCAGTTTGGCTCTTGGGGCCTGGA
CGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACT
TCCGCCTTGGAGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTG
GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT
TGGGCAGGTGCTCTTTGAGGCCGGCTCCCTCGGGCACCTGGCCCTCCGGG
AGCTTCACATCCATCTGGCCAGCCTGGACCTTCAGGTCGGCAGAAG
 3 a0068
a0074
a0126
a0068
a0074
a0126
 3 HG02630.hp1
HG02723.hp1
NA20129.hp2
HG02630.hp1
HG02723.hp1
NA20129.hp2
 conservative_inframe_insertion MODERATE c.11566_11567insCTTC
others(491): Show 
c.11566_11567insCTTCTGCCGACCTGAAGGTCCAGGCTGGCCAGAT
GGATGTGAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCCGGCCTCAAAG
AGCACCTGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCAAAGTGGAC
CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGT
CTCCAAGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCG
TGGAGGTGGACGTCCAGGCCCCAAGAGCCAAACTGGATAGTGCACAGCTG
GAGGGGGACCTGTCCCTGGCCAACAAGGATGTGACTGCCAAAGACAGCAA
ATTCAAAATGCCCAAGTTCAAGATGCCGTCATTTGGGGTGTCTGCCCCAG
GCAAGTCCATTGAGGCCTCGGTGCACGTGTCTGCACCCAAGGTGGAGGCC
GATGTGAGTCTCCCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAG
CATTCAGCCCC
 p.Pro3855_His3856ins
others(495): Show 
p.Pro3855_His3856insProSerAlaAspLeuLysValGlnAlaGly
GlnMetAspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLe
uLysGluHisLeuProLysValGluMetProSerLeuLysMetProLysV
alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu
LysValSerLysAlaGluValThrAlaProAspValGluValSerLeuPr
oSerValGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaG
lnLeuGluGlyAspLeuSerLeuAlaAsnLysAspValThrAlaLysAsp
SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl
aProGlyLysSerIleGluAlaSerValHisValSerAlaProLysValG
luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAsp
LeuSerIleGlnPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11703/18335 11566/17388 3856/5795 chr14 104943884
chr14:104943942 C
C
 T
T
 1 a0160
a0160
 1 HG03041.hp1
HG03041.hp1
 missense_variant MODERATE c.11509G>A
c.11509G>A
 p.Val3837Met
p.Val3837Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11646/18335 11509/17388 3837/5795 chr14 104943942
chr14:104943992 T
T
 C
C
 1 a0056
a0056
 1 HG02698.hp2
HG02698.hp2
 missense_variant MODERATE c.11459A>G
c.11459A>G
 p.Lys3820Arg
p.Lys3820Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11596/18335 11459/17388 3820/5795 chr14 104943992
chr14:104944074 C
C
 T
T
 116 a0001
a0004
a0006
others(113): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 190 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(187): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.11377G>A
c.11377G>A
 p.Asp3793Asn
p.Asp3793Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11514/18335 11377/17388 3793/5795 chr14 104944074
chr14:104944085 A
A
 C
C
 1 a0058
a0058
 1 NA18970.hp1
NA18970.hp1
 missense_variant MODERATE c.11366T>G
c.11366T>G
 p.Leu3789Arg
p.Leu3789Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11503/18335 11366/17388 3789/5795 chr14 104944085
chr14:104944119 C
C
 T
T
 3 a0031
a0118
a0119
a0031
a0118
a0119
 4 HG02698.hp1
HG03491.hp1
HG03492.hp1
others(1): Show 
HG02698.hp1
HG03491.hp1
HG03492.hp1
HG03688.hp2
 missense_variant MODERATE c.11332G>A
c.11332G>A
 p.Ala3778Thr
p.Ala3778Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11469/18335 11332/17388 3778/5795 chr14 104944119
chr14:104944134 C
C
 T
T
 3 a0036
a0133
a0191
a0036
a0133
a0191
 4 HG02280.hp1
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02280.hp1
HG02630.hp2
HG02922.hp1
HG03209.hp2
 missense_variant MODERATE c.11317G>A
c.11317G>A
 p.Val3773Ile
p.Val3773Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11454/18335 11317/17388 3773/5795 chr14 104944134
chr14:104944446 C
C
 G
G
 1 a0140
a0140
 1 NA18950.hp1
NA18950.hp1
 missense_variant MODERATE c.11005G>C
c.11005G>C
 p.Glu3669Gln
p.Glu3669Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11142/18335 11005/17388 3669/5795 chr14 104944446
chr14:104944490 C
C
 T
T
 114 a0001
a0004
a0006
others(111): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0044
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0144
a0149
a0157
a0161
a0169
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0208
a0209
a0210
a0211
 188 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(185): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.10961G>A
c.10961G>A
 p.Gly3654Glu
p.Gly3654Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11098/18335 10961/17388 3654/5795 chr14 104944490
chr14:104944681 TGCCTTGG
others(1973): Show 
TGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGG
GGCCCTTGAGGTCCACTTTGGGCGTCTTTAAACTGGGCATCTCCACTTTG
GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCCAGGAG
TTCCACATCCACTTGGACAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCT
GAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTC
ACGTCGGCCTCCACCTTCGGCGCAGACACATCCAGCGAGGCCTCGATGGA
CCTGCCTGGGGCCGACACCCCGAAGGAGGGCATCTTGAACTTGGGCATTT
TGAACTTGCTGTCTTTGGCAGTCACATCCTTTTCAGCCAGGGACAGGTCC
CCCTCCAGCCGCGCACCATCCAGCTTGGCTCTCGGGGCCTGGACGTCCAC
CTCCACGCTGGGCAGAGACACCTCCACATCAGGGACTGTCACTTCCGCCT
TGGGGACTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCTC
TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAG
GTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCA
CGTCCACCTGGCCAGCCTGGACCTCCAGGTCCACAGAAGGGAGCTGAATG
CTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTC
GGCCTCCGCCTTCGGCGCAGACACATCCACCGAGGCCTGGATGGACTTGC
CTGGGGCAGACGCCCTGTACGACGGCATCTTGAATTTGGGCATTTTGAAC
TTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTC
CAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACGTCCACCTCCA
TGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCACATCCATCTTCGGG
CCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGCG
ATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCC
CTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCC
ACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGAT
GTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCT
CCACCTTTGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGG
GCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT
GTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCC
GTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCG
GGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTT
CAGGTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTA
CTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTG
AGGCCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTG
GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAG
TGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACC
TTCGGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGA
CACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTT
TGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCA
CCATCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAG
AGACACCTCCACGTCGGGGGCCGTCACCTCC
 T
T
 1 a0170
a0170
 1 HG02273.hp2
HG02273.hp2
 disruptive_inframe_deletion MODERATE c.8790_10769del
c.8790_10769del
 p.Glu2931_Ala3590del
p.Glu2931_Ala3590del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10906/18335 8790/17388 2930/5795 chr14 104944681
chr14:104944742 T
T
 G
G
 2 a0186
a0187
a0186
a0187
 2 NA18961.hp2
NA19012.hp1
NA18961.hp2
NA19012.hp1
 missense_variant MODERATE c.10709A>C
c.10709A>C
 p.Asp3570Ala
p.Asp3570Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10846/18335 10709/17388 3570/5795 chr14 104944742
chr14:104944754 G
G
 A
A
 23 a0028
a0032
a0034
others(20): Show 
a0028
a0032
a0034
a0074
a0077
a0079
a0082
a0083
a0102
a0103
a0125
a0126
a0127
a0128
a0131
a0132
a0157
a0161
a0195
a0203
a0208
a0209
a0210
 26 HG02055.hp2
HG02258.hp2
HG02451.hp2
others(23): Show 
HG02055.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 missense_variant MODERATE c.10697C>T
c.10697C>T
 p.Thr3566Met
p.Thr3566Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10834/18335 10697/17388 3566/5795 chr14 104944754
chr14:104944759 T
T
 G
G
 23 a0028
a0032
a0034
others(20): Show 
a0028
a0032
a0034
a0074
a0077
a0079
a0082
a0083
a0102
a0103
a0125
a0126
a0127
a0128
a0131
a0132
a0157
a0161
a0195
a0203
a0208
a0209
a0210
 26 HG02055.hp2
HG02258.hp2
HG02451.hp2
others(23): Show 
HG02055.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 missense_variant MODERATE c.10692A>C
c.10692A>C
 p.Leu3564Phe
p.Leu3564Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10829/18335 10692/17388 3564/5795 chr14 104944759
chr14:104944773 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10678G>C
c.10678G>C
 p.Glu3560Gln
p.Glu3560Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10815/18335 10678/17388 3560/5795 chr14 104944773
chr14:104944800 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10651G>A
c.10651G>A
 p.Gly3551Ser
p.Gly3551Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10788/18335 10651/17388 3551/5795 chr14 104944800
chr14:104944812 G
G
 A
A
 1 a0046
a0046
 2 HG00642.hp2
HG00738.hp1
HG00642.hp2
HG00738.hp1
 missense_variant MODERATE c.10639C>T
c.10639C>T
 p.Pro3547Ser
p.Pro3547Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10776/18335 10639/17388 3547/5795 chr14 104944812
chr14:104944826 A
A
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10625T>C
c.10625T>C
 p.Leu3542Pro
p.Leu3542Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10762/18335 10625/17388 3542/5795 chr14 104944826
chr14:104944833 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10618G>A
c.10618G>A
 p.Glu3540Lys
p.Glu3540Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10755/18335 10618/17388 3540/5795 chr14 104944833
chr14:104944847 A
A
 C
C
 4 a0028
a0141
a0188
others(1): Show 
a0028
a0141
a0188
a0189
 5 HG02280.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02280.hp2
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG03195.hp1
 missense_variant MODERATE c.10604T>G
c.10604T>G
 p.Val3535Gly
p.Val3535Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10741/18335 10604/17388 3535/5795 chr14 104944847
chr14:104944874 G
G
 A
A
 1 a0059
a0059
 1 HG01168.hp2
HG01168.hp2
 missense_variant MODERATE c.10577C>T
c.10577C>T
 p.Pro3526Leu
p.Pro3526Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10714/18335 10577/17388 3526/5795 chr14 104944874
chr14:104944874 G
G
 T
T
 5 a0026
a0071
a0072
others(2): Show 
a0026
a0071
a0072
a0073
a0085
 6 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(3): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG03041.hp2
 missense_variant MODERATE c.10577C>A
c.10577C>A
 p.Pro3526His
p.Pro3526His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10714/18335 10577/17388 3526/5795 chr14 104944874
chr14:104944884 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10567A>G
c.10567A>G
 p.Ile3523Val
p.Ile3523Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10704/18335 10567/17388 3523/5795 chr14 104944884
chr14:104944890 G
G
 T
T
 1 a0084
a0084
 1 HG01175.hp2
HG01175.hp2
 missense_variant MODERATE c.10561C>A
c.10561C>A
 p.Leu3521Ile
p.Leu3521Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10698/18335 10561/17388 3521/5795 chr14 104944890
chr14:104944899 C
C
 T
T
 4 a0059
a0084
a0137
others(1): Show 
a0059
a0084
a0137
a0155
 4 HG01168.hp2
HG01175.hp2
HG01256.hp2
others(1): Show 
HG01168.hp2
HG01175.hp2
HG01256.hp2
HG02809.hp1
 missense_variant MODERATE c.10552G>A
c.10552G>A
 p.Ala3518Thr
p.Ala3518Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10689/18335 10552/17388 3518/5795 chr14 104944899
chr14:104944923 A
A
 G
G
 9 a0022
a0028
a0037
others(6): Show 
a0022
a0028
a0037
a0064
a0105
a0107
a0137
a0146
a0150
 13 HG00099.hp1
HG00741.hp2
HG01433.hp2
others(10): Show 
HG00099.hp1
HG00741.hp2
HG01433.hp2
HG02055.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp2
HG03130.hp1
HG03139.hp2
HG03516.hp1
HG03654.hp1
NA18953.hp1
 missense_variant MODERATE c.10528T>C
c.10528T>C
 p.Ser3510Pro
p.Ser3510Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10665/18335 10528/17388 3510/5795 chr14 104944923
chr14:104944932 C
C
 T
T
 1 a0146
a0146
 1 HG03516.hp1
HG03516.hp1
 missense_variant MODERATE c.10519G>A
c.10519G>A
 p.Val3507Met
p.Val3507Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10656/18335 10519/17388 3507/5795 chr14 104944932
chr14:104944943 A
A
 G
G
 1 a0099
a0099
 1 HG01891.hp2
HG01891.hp2
 missense_variant MODERATE c.10508T>C
c.10508T>C
 p.Val3503Ala
p.Val3503Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10645/18335 10508/17388 3503/5795 chr14 104944943
chr14:104944949 G
G
 A
A
 6 a0039
a0041
a0134
others(3): Show 
a0039
a0041
a0134
a0135
a0140
a0155
 8 HG01074.hp1
HG01192.hp2
HG01256.hp2
others(5): Show 
HG01074.hp1
HG01192.hp2
HG01256.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
NA18950.hp1
 missense_variant MODERATE c.10502C>T
c.10502C>T
 p.Pro3501Leu
p.Pro3501Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10639/18335 10502/17388 3501/5795 chr14 104944949
chr14:104944950 G
G
 A
A
 6 a0039
a0041
a0134
others(3): Show 
a0039
a0041
a0134
a0135
a0140
a0155
 8 HG01074.hp1
HG01192.hp2
HG01256.hp2
others(5): Show 
HG01074.hp1
HG01192.hp2
HG01256.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
NA18950.hp1
 missense_variant MODERATE c.10501C>T
c.10501C>T
 p.Pro3501Ser
p.Pro3501Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10638/18335 10501/17388 3501/5795 chr14 104944950
chr14:104944956 A
A
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10495T>A
c.10495T>A
 p.Ser3499Thr
p.Ser3499Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10632/18335 10495/17388 3499/5795 chr14 104944956
chr14:104944965 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10486C>G
c.10486C>G
 p.Leu3496Val
p.Leu3496Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10623/18335 10486/17388 3496/5795 chr14 104944965
chr14:104944975 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10476C>G
c.10476C>G
 p.Ile3492Met
p.Ile3492Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10613/18335 10476/17388 3492/5795 chr14 104944975
chr14:104944982 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10469G>A
c.10469G>A
 p.Arg3490Lys
p.Arg3490Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10606/18335 10469/17388 3490/5795 chr14 104944982
chr14:104944997 A
A
 G
G
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10454T>C
c.10454T>C
 p.Val3485Ala
p.Val3485Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10591/18335 10454/17388 3485/5795 chr14 104944997
chr14:104945001 C
C
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10450G>A
c.10450G>A
 p.Gly3484Arg
p.Gly3484Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10587/18335 10450/17388 3484/5795 chr14 104945001
chr14:104945003 A
A
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10448T>A
c.10448T>A
 p.Phe3483Tyr
p.Phe3483Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10585/18335 10448/17388 3483/5795 chr14 104945003
chr14:104945055 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10396G>A
c.10396G>A
 p.Val3466Met
p.Val3466Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10533/18335 10396/17388 3466/5795 chr14 104945055
chr14:104945056 A
A
 C
C
 1 a0174
a0174
 1 NA19085.hp1
NA19085.hp1
 missense_variant MODERATE c.10395T>G
c.10395T>G
 p.Asp3465Glu
p.Asp3465Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10532/18335 10395/17388 3465/5795 chr14 104945056
chr14:104945062 T
T
 G
G
 3 a0028
a0174
a0204
a0028
a0174
a0204
 4 HG02723.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02723.hp2
HG02896.hp1
HG02897.hp2
NA19085.hp1
 missense_variant MODERATE c.10389A>C
c.10389A>C
 p.Glu3463Asp
p.Glu3463Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10526/18335 10389/17388 3463/5795 chr14 104945062
chr14:104945112 T
T
 C
C
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10339A>G
c.10339A>G
 p.Arg3447Gly
p.Arg3447Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10476/18335 10339/17388 3447/5795 chr14 104945112
chr14:104945121 G
G
 C
C
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10330C>G
c.10330C>G
 p.Gln3444Glu
p.Gln3444Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10467/18335 10330/17388 3444/5795 chr14 104945121
chr14:104945136 C
C
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10315G>A
c.10315G>A
 p.Val3439Met
p.Val3439Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10452/18335 10315/17388 3439/5795 chr14 104945136
chr14:104945144 A
A
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10307T>A
c.10307T>A
 p.Leu3436Gln
p.Leu3436Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10444/18335 10307/17388 3436/5795 chr14 104945144
chr14:104945165 A
A
 G
G
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10286T>C
c.10286T>C
 p.Val3429Ala
p.Val3429Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10423/18335 10286/17388 3429/5795 chr14 104945165
chr14:104945173 T
T
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10278A>T
c.10278A>T
 p.Glu3426Asp
p.Glu3426Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10415/18335 10278/17388 3426/5795 chr14 104945173
chr14:104945177 G
G
 A
A
 3 a0028
a0050
a0204
a0028
a0050
a0204
 5 HG01257.hp2
HG01258.hp1
HG02723.hp2
others(2): Show 
HG01257.hp2
HG01258.hp1
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10274C>T
c.10274C>T
 p.Ala3425Val
p.Ala3425Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10411/18335 10274/17388 3425/5795 chr14 104945177
chr14:104945178 C
C
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10273G>A
c.10273G>A
 p.Ala3425Thr
p.Ala3425Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10410/18335 10273/17388 3425/5795 chr14 104945178
chr14:104945186 A
A
 C
C
 2 a0183
a0204
a0183
a0204
 2 HG02004.hp1
HG02723.hp2
HG02004.hp1
HG02723.hp2
 missense_variant MODERATE c.10265T>G
c.10265T>G
 p.Val3422Gly
p.Val3422Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10402/18335 10265/17388 3422/5795 chr14 104945186
chr14:104945186 A
A
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10265T>A
c.10265T>A
 p.Val3422Asp
p.Val3422Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10402/18335 10265/17388 3422/5795 chr14 104945186
chr14:104945220 C
C
 T
T
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10231G>A
c.10231G>A
 p.Val3411Met
p.Val3411Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10368/18335 10231/17388 3411/5795 chr14 104945220
chr14:104945223 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10228C>G
c.10228C>G
 p.Gln3410Glu
p.Gln3410Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10365/18335 10228/17388 3410/5795 chr14 104945223
chr14:104945229 T
T
 C
C
 3 a0028
a0145
a0204
a0028
a0145
a0204
 4 HG00140.hp2
HG02723.hp2
HG02896.hp1
others(1): Show 
HG00140.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10222A>G
c.10222A>G
 p.Ser3408Gly
p.Ser3408Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10359/18335 10222/17388 3408/5795 chr14 104945229
chr14:104945234 A
A
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10217T>G
c.10217T>G
 p.Leu3406Arg
p.Leu3406Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10354/18335 10217/17388 3406/5795 chr14 104945234
chr14:104945268 C
C
 G
G
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10183G>C
c.10183G>C
 p.Glu3395Gln
p.Glu3395Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10320/18335 10183/17388 3395/5795 chr14 104945268
chr14:104945271 C
C
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10180G>T
c.10180G>T
 p.Val3394Leu
p.Val3394Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10317/18335 10180/17388 3394/5795 chr14 104945271
chr14:104945300 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10151G>A
c.10151G>A
 p.Gly3384Glu
p.Gly3384Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10288/18335 10151/17388 3384/5795 chr14 104945300
chr14:104945306 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10145C>T
c.10145C>T
 p.Pro3382Leu
p.Pro3382Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10282/18335 10145/17388 3382/5795 chr14 104945306
chr14:104945321 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10130C>T
c.10130C>T
 p.Pro3377Leu
p.Pro3377Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10267/18335 10130/17388 3377/5795 chr14 104945321
chr14:104945343 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10108G>C
c.10108G>C
 p.Gly3370Arg
p.Gly3370Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10245/18335 10108/17388 3370/5795 chr14 104945343
chr14:104945354 T
T
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10097A>C
c.10097A>C
 p.Glu3366Ala
p.Glu3366Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10234/18335 10097/17388 3366/5795 chr14 104945354
chr14:104945355 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10096G>A
c.10096G>A
 p.Glu3366Lys
p.Glu3366Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10233/18335 10096/17388 3366/5795 chr14 104945355
chr14:104945359 G
G
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10092C>A
c.10092C>A
 p.Asp3364Glu
p.Asp3364Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10229/18335 10092/17388 3364/5795 chr14 104945359
chr14:104945361 C
C
 G
G
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10090G>C
c.10090G>C
 p.Asp3364His
p.Asp3364His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10227/18335 10090/17388 3364/5795 chr14 104945361
chr14:104945363 A
A
 G
G
 114 a0001
a0004
a0006
others(111): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0191
a0195
a0196
a0203
a0204
a0205
a0207
a0211
 189 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(186): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.10088T>C
c.10088T>C
 p.Val3363Ala
p.Val3363Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10225/18335 10088/17388 3363/5795 chr14 104945363
chr14:104945369 G
G
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10082C>A
c.10082C>A
 p.Pro3361His
p.Pro3361His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10219/18335 10082/17388 3361/5795 chr14 104945369
chr14:104945372 A
A
 G
G
 2 a0028
a0204
a0028
a0204
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.10079T>C
c.10079T>C
 p.Leu3360Pro
p.Leu3360Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10216/18335 10079/17388 3360/5795 chr14 104945372
chr14:104945376 G
G
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10075C>G
c.10075C>G
 p.Gln3359Glu
p.Gln3359Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10212/18335 10075/17388 3359/5795 chr14 104945376
chr14:104945385 G
G
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10066C>A
c.10066C>A
 p.Leu3356Ile
p.Leu3356Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10203/18335 10066/17388 3356/5795 chr14 104945385
chr14:104945393 G
G
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10058C>A
c.10058C>A
 p.Thr3353Asn
p.Thr3353Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10195/18335 10058/17388 3353/5795 chr14 104945393
chr14:104945396 T
T
 C
C
 2 a0036
a0133
a0036
a0133
 3 HG02630.hp2
HG02922.hp1
HG03209.hp2
HG02630.hp2
HG02922.hp1
HG03209.hp2
 missense_variant MODERATE c.10055A>G
c.10055A>G
 p.Lys3352Arg
p.Lys3352Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10192/18335 10055/17388 3352/5795 chr14 104945396
chr14:104945398 GAGGTCCC
others(983): Show 
GAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCGCCTTCGGCG
CAGACACATCCACCGAGGCCTGGATGGACTTGCCTGGGGCAGACGCCCTG
TACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT
CACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCA
ACTTGGCTCCTGGGGCCTCGACGTCCACCTCCATGCTGGGCTGAGACACC
TCCACGTCGGGGGCCGTCACATCCATCTTCGGGCCTTTCAGGTCCAGCTT
GGGGCCCTTGATGTCTATCTGGGGGCCCTTGCGATCTACTTTGGGCATCT
TGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCC
TCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCCTGGAC
CTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTTCAGGT
CCCCCTGCATGGAGGGGAGGCTCAGGTCGGCCTCCACCTTTGGCGCAGAC
ACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGA
CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT
CCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTG
GCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCTCCAC
GTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGC
CCTTGACATCTATCTGGGGTCCCTTGCGATCTACTTTGGGCATCTTGAAA
CTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGG
AACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCTGGACCTCCA
GTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 disruptive_inframe_deletion MODERATE c.9063_10052del
c.9063_10052del
 p.Lys3022_Leu3351del
p.Lys3022_Leu3351del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10189/18335 9063/17388 3021/5795 chr14 104945398
chr14:104945411 A
A
 G
G
 1 a0067
a0067
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.10040T>C
c.10040T>C
 p.Met3347Thr
p.Met3347Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10177/18335 10040/17388 3347/5795 chr14 104945411
chr14:104945438 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.10013C>T
c.10013C>T
 p.Ala3338Val
p.Ala3338Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10150/18335 10013/17388 3338/5795 chr14 104945438
chr14:104945444 G
G
 A
A
 108 a0001
a0004
a0006
others(105): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 181 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(178): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.10007C>T
c.10007C>T
 p.Pro3336Leu
p.Pro3336Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10144/18335 10007/17388 3336/5795 chr14 104945444
chr14:104945462 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9989C>T
c.9989C>T
 p.Ser3330Leu
p.Ser3330Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10126/18335 9989/17388 3330/5795 chr14 104945462
chr14:104945465 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9986C>T
c.9986C>T
 p.Ala3329Val
p.Ala3329Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10123/18335 9986/17388 3329/5795 chr14 104945465
chr14:104945469 G
G
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9982C>G
c.9982C>G
 p.Gln3328Glu
p.Gln3328Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10119/18335 9982/17388 3328/5795 chr14 104945469
chr14:104945492 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9959C>T
c.9959C>T
 p.Ala3320Val
p.Ala3320Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10096/18335 9959/17388 3320/5795 chr14 104945492
chr14:104945496 T
T
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9955A>G
c.9955A>G
 p.Arg3319Gly
p.Arg3319Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10092/18335 9955/17388 3319/5795 chr14 104945496
chr14:104945498 T
T
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9953A>T
c.9953A>T
 p.Tyr3318Phe
p.Tyr3318Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10090/18335 9953/17388 3318/5795 chr14 104945498
chr14:104945515 TTTGGGCA
others(488): Show 
TTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCA
GGGACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCC
TCGACGTCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGT
CACATCCATCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTA
TCTGGGGGCCCTTGCGATCTACTTTGGGCATCTTGAAACTGGGCATCTGC
AACTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTC
TGGGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGG
GGGGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGG
AGGCTCAGGTCGGCCTCCACCTTTGGCGCAGACACATCCACCAAGACCTC
AATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAAC
 T
T
 37 a0001
a0011
a0021
others(34): Show 
a0001
a0011
a0021
a0022
a0025
a0029
a0030
a0031
a0052
a0061
a0062
a0065
a0067
a0098
a0100
a0101
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0167
a0168
a0196
 70 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(67): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp2
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG02809.hp2
HG03453.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 disruptive_inframe_deletion MODERATE c.9441_9935del
c.9441_9935del
 p.Phe3148_Lys3312del
p.Phe3148_Lys3312del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10072/18335 9441/17388 3147/5795 chr14 104945515
chr14:104945634 T
T
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9817A>G
c.9817A>G
 p.Ser3273Gly
p.Ser3273Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9954/18335 9817/17388 3273/5795 chr14 104945634
chr14:104945652 C
C
 T
T
 1 a0193
a0193
 1 HG02486.hp1
HG02486.hp1
 missense_variant MODERATE c.9799G>A
c.9799G>A
 p.Val3267Met
p.Val3267Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9936/18335 9799/17388 3267/5795 chr14 104945652
chr14:104945672 A
A
 G
G
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9779T>C
c.9779T>C
 p.Met3260Thr
p.Met3260Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9916/18335 9779/17388 3260/5795 chr14 104945672
chr14:104945729 C
C
 CGATCTAC
others(1973): Show 
CGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTG
CCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGT
CCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTG
ATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGC
CTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTG
GGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTG
CTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAG
CCGTGCACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGC
CGGGCTGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCT
TTCAGGTCCAGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATC
TACTTTGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTT
TGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACC
TGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTC
AGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCA
CCTTCGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCA
GACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC
TTTGGCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTG
CACCATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGC
TGAGACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAG
GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGTCCCTTGCGATCTACTT
TGGGCATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGG
CCAGCTCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCC
AGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGG
TCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC
GGCGCAGACACATCCACCGAGACCTCAATGGACTTGCCTGGGGCAGACAC
CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG
CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGTGCACCA
TCCAGCTTTGCTCTCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGA
CACCTCCACGTCGGGGGCCGTCACCTCCGCCTTGGGGCCTTTCAGGTCCA
GCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGGC
ATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAGC
TCCCTCGGGAACGTGGCCCTCTGGGAGCTTCAGGTCCACCTGGCCAGCCT
GGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGGTCTTC
AGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCGGCGC
AGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACACCCCGA
ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC
ACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACCATCCAA
CTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAGACACCT
CCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTG
GGGCCCTTGATGTCTATCTGGGGGCCCTTGT
 2 a0036
a0191
a0036
a0191
 3 HG02280.hp1
HG02922.hp1
HG03209.hp2
HG02280.hp1
HG02922.hp1
HG03209.hp2
 conservative_inframe_insertion MODERATE c.9721_9722insACAAGG
others(1974): Show 
c.9721_9722insACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGC
TGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTG
TCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGA
TGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTG
CCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGG
GTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCC
GAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGA
CCACTGACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCT
GGCCAGGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGG
CCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCA
AAGTAGATCACAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGAC
CTGAAAGGCCCCAAGGCGGAGGTGACGGCCCCCGACGTGGAGGTGTCTCT
GCCCAGCGTGGAGGTGGACGTCGAGGCCCCGAGAGCAAAGCTGGATGGTG
CACGGCTGGAGGGTGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAA
GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTC
TGCCCCAGGCAAGTCCATTGAGGTCTCGGTGGATGTGTCTGCGCCGAAGG
TGGAGGCCGAAGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGACCACT
GACATCAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCA
GGTGGACCTGAAGCTCCCAGAGGGCCACGTTCCCGAGGGAGCTGGCCTCA
AAGGGCACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTA
GATCGCAAGGGACCCCAGATAGATGTCAAGGGCCCCAAGCTGGACCTGAA
AGGCCCGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCG
GCATGGAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGG
CTGGAGGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAG
CAAGTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCC
CAGGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAG
GCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACAT
CAGCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGG
ACGTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGG
CACCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCA
CAAGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCC
CGAAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCGGCATG
GAGGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGA
GGGGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGT
TCAAAATGCCCAAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCAGGC
AAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGCCGA
CGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCAGCA
TTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGACGTG
AAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCACCT
GCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATC
 p.Asp3240_Arg3241ins
others(1980): Show 
p.Asp3240_Arg3241insHisLysGlyProGlnIleAspIleLysGly
ProLysLeuAspLeuLysGlyProLysThrAspValThrAlaProAspVa
lGluValSerGlnProGlyMetGluValAspValGluAlaProGlyAlaL
ysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAsp
ValThrAlaLysAspSerLysPheLysMetProLysPheLysMetProSe
rPheGlyValSerAlaProGlyLysSerIleGluValLeuValAspValS
erAlaProLysValGluAlaAspValSerLeuProSerMetGlnGlyAsp
LeuLysThrThrAspIleSerIleGluProProSerAlaGlnLeuGluVa
lGlnAlaGlyGlnValAspLeuLysLeuProGluGlyHisValProGluG
lyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLys
MetProLysValAspHisLysGlyProGlnIleAspIleLysGlyProLy
sLeuAspLeuLysGlyProLysAlaGluValThrAlaProAspValGluV
alSerLeuProSerValGluValAspValGluAlaProArgAlaLysLeu
AspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValTh
rAlaLysAspSerLysPheLysMetProLysPheLysMetProSerPheG
lyValSerAlaProGlyLysSerIleGluValSerValAspValSerAla
ProLysValGluAlaGluValSerLeuProSerMetGlnGlyAspLeuLy
sThrThrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnA
laGlyGlnValAspLeuLysLeuProGluGlyHisValProGluGlyAla
GlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetPr
oLysValAspArgLysGlyProGlnIleAspValLysGlyProLysLeuA
spLeuLysGlyProLysThrAspValThrAlaProAspValGluValSer
GlnProGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGl
yAlaArgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaL
ysAspSerLysPheLysMetProLysPheLysMetProSerPheGlyVal
SerAlaProGlyLysSerIleGluValLeuValAspValSerAlaProLy
sValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnT
hrAspIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGly
GlnValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLe
uLysGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysV
alAspHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeu
LysGlyProLysThrAspValThrAlaProAspValGluValSerGlnPr
oGlyMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaA
rgLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp
SerLysPheLysMetProLysPheLysMetProSerPheGlyValSerAl
aProGlyLysSerIleGluValLeuValAspValSerAlaProLysValG
luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrAsp
IleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGlnVa
lAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLysG
lyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValAsp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9858/18335 9721/17388 3241/5795 chr14 104945729
chr14:104945729 C
C
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.9722G>A
c.9722G>A
 p.Arg3241His
p.Arg3241His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9859/18335 9722/17388 3241/5795 chr14 104945729
chr14:104945795 C
C
 T
T
 3 a0075
a0076
a0197
a0075
a0076
a0197
 3 HG01884.hp2
HG02717.hp2
HG02922.hp2
HG01884.hp2
HG02717.hp2
HG02922.hp2
 missense_variant MODERATE c.9656G>A
c.9656G>A
 p.Gly3219Glu
p.Gly3219Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9793/18335 9656/17388 3219/5795 chr14 104945795
chr14:104945819 A
A
 G
G
 1 a0166
a0166
 1 HG02293.hp1
HG02293.hp1
 missense_variant MODERATE c.9632T>C
c.9632T>C
 p.Leu3211Pro
p.Leu3211Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9769/18335 9632/17388 3211/5795 chr14 104945819
chr14:104945922 G
G
 C
C
 80 a0004
a0006
a0009
others(77): Show 
a0004
a0006
a0009
a0010
a0015
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0032
a0034
a0035
a0036
a0046
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0064
a0066
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0102
a0103
a0114
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0191
a0195
a0197
a0203
a0204
a0205
a0207
a0211
 121 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(118): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01884.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 missense_variant MODERATE c.9529C>G
c.9529C>G
 p.Leu3177Val
p.Leu3177Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9666/18335 9529/17388 3177/5795 chr14 104945922
chr14:104945923 G
G
 C
C
 72 a0004
a0006
a0009
others(69): Show 
a0004
a0006
a0009
a0010
a0015
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0032
a0034
a0035
a0046
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0066
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0093
a0094
a0095
a0096
a0097
a0102
a0103
a0114
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0195
a0203
a0205
a0207
a0211
 112 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(109): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03471.hp1
HG03486.hp2
HG03492.hp2
HG03540.hp1
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
 missense_variant MODERATE c.9528C>G
c.9528C>G
 p.Asp3176Glu
p.Asp3176Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9665/18335 9528/17388 3176/5795 chr14 104945923
chr14:104945938 T
T
 TGGCGCAG
others(488): Show 
TGGCGCAGACACATCCACCAAGACCTCAATGGACTTGCCTGGGGCAGACA
CCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTG
GCAGTCACATCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGTGCACC
ATCCAACTTGGCTCCTGGGGCCTCGACATCCACCTCCATGCCGGGCTGAG
ACACCTCCACGTCGGGGGCCGTCACGTCCGTCTTCGGGCCTTTCAGGTCC
AGCTTGGGGCCCTTGATGTCTATCTGGGGGCCCTTGTGATCTACTTTGGG
CATCTTGAAACTGGGCATCTGCAACTTGGGCAGGTGCCCTTTGAGGCCAG
CTCCCTCGAGAACGTGGCCCTCTGGGAGCTTCACGTCCACCTGGCCAGCC
TGGACCTCCAGTTGGGCAGAGGGGGGCTCAATGCTGATGTCAGTGTTCTT
CAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC
 2 a0075
a0076
a0075
a0076
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 disruptive_inframe_insertion MODERATE c.9512_9513insGAAGGT
others(489): Show 
c.9512_9513insGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCA
GGGGGACCTGAAGAACACTGACATCAGCATTGAGCCCCCCTCTGCCCAAC
TGGAGGTCCAGGCTGGCCAGGTGGACGTGAAGCTCCCAGAGGGCCACGTT
CTCGAGGGAGCTGGCCTCAAAGGGCACCTGCCCAAGTTGCAGATGCCCAG
TTTCAAGATGCCCAAAGTAGATCACAAGGGCCCCCAGATAGACATCAAGG
GCCCCAAGCTGGACCTGAAAGGCCCGAAGACGGACGTGACGGCCCCCGAC
GTGGAGGTGTCTCAGCCCGGCATGGAGGTGGATGTCGAGGCCCCAGGAGC
CAAGTTGGATGGTGCACGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGG
ATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCG
TCGTTCGGGGTGTCTGCCCCAGGCAAGTCCATTGAGGTCTTGGTGGATGT
GTCTGCGCC
 p.Pro3171_Lys3172ins
others(495): Show 
p.Pro3171_Lys3172insLysValGluAlaAspValSerLeuProSer
MetGlnGlyAspLeuLysAsnThrAspIleSerIleGluProProSerAl
aGlnLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyH
isValLeuGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMet
ProSerPheLysMetProLysValAspHisLysGlyProGlnIleAspIl
eLysGlyProLysLeuAspLeuLysGlyProLysThrAspValThrAlaP
roAspValGluValSerGlnProGlyMetGluValAspValGluAlaPro
GlyAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAs
pLysAspValThrAlaLysAspSerLysPheLysMetProLysPheLysM
etProSerPheGlyValSerAlaProGlyLysSerIleGluValLeuVal
AspValSerAlaPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9649/18335 9512/17388 3171/5795 chr14 104945938
chr14:104946012 T
T
 TGGGCATT
others(488): Show 
TGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGG
GACAGGTCCCCCTCCAGCCGTGCACCATCCAACTTGGCTCCTGGGGCCTC
GACATCCACCTCCATGCTGGGCTGAGACACCTCCACGTCGGGGGCCGTCA
CGTCCGTCTTCGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGATGTCTATC
TGGGGGCCCTTGTGATCTACTTTGGGCATCTTGAAACTGGGCATCTGCAA
CTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGAGAACGTGGCCCTCTG
GGAGCTTCACGTCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAGGGG
GGCTCAATGCTGATGTCAGTGTTCTTCAGGTCCCCCTGCATGGAGGGGAG
GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCAAGACCTCAA
TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTC
 1 a0197
a0197
 1 HG02922.hp2
HG02922.hp2
 conservative_inframe_insertion MODERATE c.9438_9439insGAGTTC
others(489): Show 
c.9438_9439insGAGTTCAAGATGCCGTCGTTCGGGGTGTCTGCCCCA
GGCAAGTCCATTGAGGTCTTGGTGGATGTGTCTGCGCCGAAGGTGGAGGC
CGACGTGAGCCTCCCCTCCATGCAGGGGGACCTGAAGAACACTGACATCA
GCATTGAGCCCCCCTCTGCCCAACTGGAGGTCCAGGCTGGCCAGGTGGAC
GTGAAGCTCCCAGAGGGCCACGTTCTCGAGGGAGCTGGCCTCAAAGGGCA
CCTGCCCAAGTTGCAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCACA
AGGGCCCCCAGATAGACATCAAGGGCCCCAAGCTGGACCTGAAAGGCCCG
AAGACGGACGTGACGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCATGGA
GGTGGATGTCGAGGCCCCAGGAGCCAAGTTGGATGGTGCACGGCTGGAGG
GGGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTC
AAAATGCCC
 p.Pro3146_Lys3147ins
others(495): Show 
p.Pro3146_Lys3147insGluPheLysMetProSerPheGlyValSer
AlaProGlyLysSerIleGluValLeuValAspValSerAlaProLysVa
lGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAsnThrA
spIleSerIleGluProProSerAlaGlnLeuGluValGlnAlaGlyGln
ValAspValLysLeuProGluGlyHisValLeuGluGlyAlaGlyLeuLy
sGlyHisLeuProLysLeuGlnMetProSerPheLysMetProLysValA
spHisLysGlyProGlnIleAspIleLysGlyProLysLeuAspLeuLys
GlyProLysThrAspValThrAlaProAspValGluValSerGlnProSe
rMetGluValAspValGluAlaProGlyAlaLysLeuAspGlyAlaArgL
euGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSer
LysPheLysMetPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9575/18335 9438/17388 3146/5795 chr14 104946012
chr14:104946204 C
C
 T
T
 110 a0001
a0004
a0006
others(107): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 183 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9247G>A
c.9247G>A
 p.Val3083Ile
p.Val3083Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9384/18335 9247/17388 3083/5795 chr14 104946204
chr14:104946224 C
C
 T
T
 110 a0001
a0004
a0006
others(107): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 183 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.9227G>A
c.9227G>A
 p.Arg3076His
p.Arg3076His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9364/18335 9227/17388 3076/5795 chr14 104946224
chr14:104946296 G
G
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.9155C>T
c.9155C>T
 p.Pro3052Leu
p.Pro3052Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9292/18335 9155/17388 3052/5795 chr14 104946296
chr14:104946321 G
G
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.9130C>G
c.9130C>G
 p.Leu3044Val
p.Leu3044Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9267/18335 9130/17388 3044/5795 chr14 104946321
chr14:104946366 C
C
 G
G
 3 a0021
a0065
a0104
a0021
a0065
a0104
 5 HG02015.hp2
HG02129.hp1
HG02165.hp2
others(2): Show 
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG03942.hp2
NA18940.hp2
 missense_variant MODERATE c.9085G>C
c.9085G>C
 p.Glu3029Gln
p.Glu3029Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9222/18335 9085/17388 3029/5795 chr14 104946366
chr14:104946383 G
G
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.9068C>A
c.9068C>A
 p.Thr3023Asn
p.Thr3023Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9205/18335 9068/17388 3023/5795 chr14 104946383
chr14:104946418 T
T
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.9033A>T
c.9033A>T
 p.Glu3011Asp
p.Glu3011Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9170/18335 9033/17388 3011/5795 chr14 104946418
chr14:104946418 T
T
 G
G
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.9033A>C
c.9033A>C
 p.Glu3011Asp
p.Glu3011Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9170/18335 9033/17388 3011/5795 chr14 104946418
chr14:104946447 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.9004G>C
c.9004G>C
 p.Asp3002His
p.Asp3002His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9141/18335 9004/17388 3002/5795 chr14 104946447
chr14:104946452 G
G
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8999C>T
c.8999C>T
 p.Ser3000Leu
p.Ser3000Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9136/18335 8999/17388 3000/5795 chr14 104946452
chr14:104946455 A
A
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8996T>C
c.8996T>C
 p.Val2999Ala
p.Val2999Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9133/18335 8996/17388 2999/5795 chr14 104946455
chr14:104946527 T
T
 C
C
 1 a0132
a0132
 1 NA18906.hp2
NA18906.hp2
 missense_variant MODERATE c.8924A>G
c.8924A>G
 p.Asp2975Gly
p.Asp2975Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9061/18335 8924/17388 2975/5795 chr14 104946527
chr14:104946575 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8876G>A
c.8876G>A
 p.Arg2959Gln
p.Arg2959Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9013/18335 8876/17388 2959/5795 chr14 104946575
chr14:104946582 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8869G>A
c.8869G>A
 p.Gly2957Ser
p.Gly2957Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9006/18335 8869/17388 2957/5795 chr14 104946582
chr14:104946597 T
T
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8854A>G
c.8854A>G
 p.Arg2952Gly
p.Arg2952Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8991/18335 8854/17388 2952/5795 chr14 104946597
chr14:104946606 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8845G>C
c.8845G>C
 p.Glu2949Gln
p.Glu2949Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8982/18335 8845/17388 2949/5795 chr14 104946606
chr14:104946621 C
C
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8830G>A
c.8830G>A
 p.Val2944Met
p.Val2944Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8967/18335 8830/17388 2944/5795 chr14 104946621
chr14:104946624 T
T
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8827A>G
c.8827A>G
 p.Ser2943Gly
p.Ser2943Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8964/18335 8827/17388 2943/5795 chr14 104946624
chr14:104946629 A
A
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8822T>A
c.8822T>A
 p.Leu2941Gln
p.Leu2941Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8959/18335 8822/17388 2941/5795 chr14 104946629
chr14:104946650 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.8801C>T
c.8801C>T
 p.Ala2934Val
p.Ala2934Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8938/18335 8801/17388 2934/5795 chr14 104946650
chr14:104946658 C
C
 G
G
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8793G>C
c.8793G>C
 p.Glu2931Asp
p.Glu2931Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8930/18335 8793/17388 2931/5795 chr14 104946658
chr14:104946663 C
C
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8788G>A
c.8788G>A
 p.Ala2930Thr
p.Ala2930Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8925/18335 8788/17388 2930/5795 chr14 104946663
chr14:104946669 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8782C>T
c.8782C>T
 p.Pro2928Ser
p.Pro2928Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8919/18335 8782/17388 2928/5795 chr14 104946669
chr14:104946671 C
C
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8780G>T
c.8780G>T
 p.Gly2927Val
p.Gly2927Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8917/18335 8780/17388 2927/5795 chr14 104946671
chr14:104946699 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8752G>A
c.8752G>A
 p.Val2918Ile
p.Val2918Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8889/18335 8752/17388 2918/5795 chr14 104946699
chr14:104946703 T
T
 C
C
 2 a0028
a0170
a0028
a0170
 3 HG02273.hp2
HG02896.hp1
HG02897.hp2
HG02273.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8748A>G
c.8748A>G
 p.Ile2916Met
p.Ile2916Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8885/18335 8748/17388 2916/5795 chr14 104946703
chr14:104946705 T
T
 C
C
 2 a0028
a0170
a0028
a0170
 3 HG02273.hp2
HG02896.hp1
HG02897.hp2
HG02273.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8746A>G
c.8746A>G
 p.Ile2916Val
p.Ile2916Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8883/18335 8746/17388 2916/5795 chr14 104946705
chr14:104946719 A
A
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8732T>G
c.8732T>G
 p.Leu2911Arg
p.Leu2911Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8869/18335 8732/17388 2911/5795 chr14 104946719
chr14:104946731 G
G
 C
C
 2 a0130
a0196
a0130
a0196
 2 HG02486.hp2
HG02976.hp2
HG02486.hp2
HG02976.hp2
 missense_variant MODERATE c.8720C>G
c.8720C>G
 p.Pro2907Arg
p.Pro2907Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8857/18335 8720/17388 2907/5795 chr14 104946731
chr14:104946739 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8712C>G
c.8712C>G
 p.Phe2904Leu
p.Phe2904Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8849/18335 8712/17388 2904/5795 chr14 104946739
chr14:104946753 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8698C>G
c.8698C>G
 p.Gln2900Glu
p.Gln2900Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8835/18335 8698/17388 2900/5795 chr14 104946753
chr14:104946756 C
C
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8695G>T
c.8695G>T
 p.Val2899Leu
p.Val2899Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8832/18335 8695/17388 2899/5795 chr14 104946756
chr14:104946770 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8681G>A
c.8681G>A
 p.Gly2894Glu
p.Gly2894Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8818/18335 8681/17388 2894/5795 chr14 104946770
chr14:104946796 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8655C>G
c.8655C>G
 p.His2885Gln
p.His2885Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8792/18335 8655/17388 2885/5795 chr14 104946796
chr14:104946816 C
C
 G
G
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8635G>C
c.8635G>C
 p.Val2879Leu
p.Val2879Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8772/18335 8635/17388 2879/5795 chr14 104946816
chr14:104946822 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8629G>A
c.8629G>A
 p.Val2877Met
p.Val2877Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8766/18335 8629/17388 2877/5795 chr14 104946822
chr14:104946840 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8611G>A
c.8611G>A
 p.Glu2871Lys
p.Glu2871Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8748/18335 8611/17388 2871/5795 chr14 104946840
chr14:104946844 T
T
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8607A>C
c.8607A>C
 p.Gln2869His
p.Gln2869His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8744/18335 8607/17388 2869/5795 chr14 104946844
chr14:104946846 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8605C>G
c.8605C>G
 p.Gln2869Glu
p.Gln2869Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8742/18335 8605/17388 2869/5795 chr14 104946846
chr14:104946861 G
G
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8590C>G
c.8590C>G
 p.Gln2864Glu
p.Gln2864Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8727/18335 8590/17388 2864/5795 chr14 104946861
chr14:104946867 G
G
 T
T
 116 a0001
a0004
a0006
others(113): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0028
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
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
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0170
a0173
a0179
a0182
a0183
a0191
a0195
a0196
a0197
a0203
a0204
a0205
a0207
a0211
 190 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(187): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.8584C>A
c.8584C>A
 p.Arg2862Ser
p.Arg2862Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8721/18335 8584/17388 2862/5795 chr14 104946867
chr14:104946870 T
T
 G
G
 2 a0027
a0028
a0027
a0028
 4 HG02027.hp2
HG02132.hp1
HG02896.hp1
others(1): Show 
HG02027.hp2
HG02132.hp1
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8581A>C
c.8581A>C
 p.Ile2861Leu
p.Ile2861Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8718/18335 8581/17388 2861/5795 chr14 104946870
chr14:104946906 A
A
 G
G
 6 a0028
a0064
a0069
others(3): Show 
a0028
a0064
a0069
a0080
a0081
a0133
 7 HG01167.hp2
HG02630.hp2
HG02896.hp1
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.8545T>C
c.8545T>C
 p.Phe2849Leu
p.Phe2849Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8682/18335 8545/17388 2849/5795 chr14 104946906
chr14:104946908 C
C
 T
T
 1 a0095
a0095
 1 NA19005.hp1
NA19005.hp1
 missense_variant MODERATE c.8543G>A
c.8543G>A
 p.Ser2848Asn
p.Ser2848Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8680/18335 8543/17388 2848/5795 chr14 104946908
chr14:104946911 C
C
 A
A
 7 a0028
a0064
a0069
others(4): Show 
a0028
a0064
a0069
a0070
a0080
a0081
a0133
 8 HG01167.hp2
HG02630.hp2
HG02896.hp1
others(5): Show 
HG01167.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
NA20129.hp1
 missense_variant MODERATE c.8540G>T
c.8540G>T
 p.Gly2847Val
p.Gly2847Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8677/18335 8540/17388 2847/5795 chr14 104946911
chr14:104946912 C
C
 T
T
 4 a0069
a0070
a0080
others(1): Show 
a0069
a0070
a0080
a0081
 4 HG01167.hp2
HG03195.hp2
HG03209.hp1
others(1): Show 
HG01167.hp2
HG03195.hp2
HG03209.hp1
NA20129.hp1
 missense_variant MODERATE c.8539G>A
c.8539G>A
 p.Gly2847Arg
p.Gly2847Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8676/18335 8539/17388 2847/5795 chr14 104946912
chr14:104946913 G
G
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8538C>A
c.8538C>A
 p.Asp2846Glu
p.Asp2846Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8675/18335 8538/17388 2846/5795 chr14 104946913
chr14:104946929 A
A
 G
G
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8522T>C
c.8522T>C
 p.Leu2841Pro
p.Leu2841Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8659/18335 8522/17388 2841/5795 chr14 104946929
chr14:104946932 T
T
 G
G
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8519A>C
c.8519A>C
 p.Glu2840Ala
p.Glu2840Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8656/18335 8519/17388 2840/5795 chr14 104946932
chr14:104946949 GGCCTCGA
others(488): Show 
GGCCTCGATGGACTTGCCTGGGGCCGACACCCCGAATGACGGCATCTTGA
ACTTGGGCATTTTGAACTTGCTGTCTTTGGCTGTCATGCCCTTGTCGGCC
AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC
CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG
TCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGGGCCCTTAACATCT
ATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGAAACTGGGCATCTG
CAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCT
CTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTCCAGTTGGGCAGAG
GGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCCCTTGCATGGAGGG
GAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACATCCACCAAC
 G
G
 1 a0037
a0037
 2 HG02055.hp1
HG03139.hp2
HG02055.hp1
HG03139.hp2
 disruptive_inframe_deletion MODERATE c.8007_8501del
c.8007_8501del
 p.Leu2670_Ala2834del
p.Leu2670_Ala2834del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8638/18335 8007/17388 2669/5795 chr14 104946949
chr14:104946950 G
G
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8501C>T
c.8501C>T
 p.Ala2834Val
p.Ala2834Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8638/18335 8501/17388 2834/5795 chr14 104946950
chr14:104946953 T
T
 G
G
 2 a0137
a0138
a0137
a0138
 2 HG02647.hp1
HG02809.hp1
HG02647.hp1
HG02809.hp1
 missense_variant MODERATE c.8498A>C
c.8498A>C
 p.Glu2833Ala
p.Glu2833Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8635/18335 8498/17388 2833/5795 chr14 104946953
chr14:104946955 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8496C>G
c.8496C>G
 p.Ile2832Met
p.Ile2832Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8633/18335 8496/17388 2832/5795 chr14 104946955
chr14:104946963 T
T
 C
C
 3 a0062
a0098
a0150
a0062
a0098
a0150
 3 HG02809.hp2
HG02965.hp2
HG03453.hp1
HG02809.hp2
HG02965.hp2
HG03453.hp1
 missense_variant MODERATE c.8488A>G
c.8488A>G
 p.Lys2830Glu
p.Lys2830Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8625/18335 8488/17388 2830/5795 chr14 104946963
chr14:104946965 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8486G>A
c.8486G>A
 p.Gly2829Asp
p.Gly2829Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8623/18335 8486/17388 2829/5795 chr14 104946965
chr14:104946981 C
C
 T
T
 7 a0028
a0044
a0051
others(4): Show 
a0028
a0044
a0051
a0144
a0150
a0169
a0189
 10 HG01167.hp1
HG01169.hp1
HG02896.hp1
others(7): Show 
HG01167.hp1
HG01169.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03225.hp2
HG03486.hp1
 missense_variant MODERATE c.8470G>A
c.8470G>A
 p.Gly2824Arg
p.Gly2824Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8607/18335 8470/17388 2824/5795 chr14 104946981
chr14:104947016 T
T
 A
A
 3 a0026
a0073
a0085
a0026
a0073
a0085
 4 HG01255.hp2
HG02258.hp1
HG02717.hp1
others(1): Show 
HG01255.hp2
HG02258.hp1
HG02717.hp1
HG03041.hp2
 missense_variant MODERATE c.8435A>T
c.8435A>T
 p.Lys2812Met
p.Lys2812Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8572/18335 8435/17388 2812/5795 chr14 104947016
chr14:104947035 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8416A>G
c.8416A>G
 p.Met2806Val
p.Met2806Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8553/18335 8416/17388 2806/5795 chr14 104947035
chr14:104947036 GCCCTTGT
others(488): Show 
GCCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCT
TTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTC
ACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCACGTTGGG
GCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTCAGGCATCTTGA
AACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCG
GGAACGTGGCCCTCTGGGAGTTTCACATCCACCTGGCCAGCCTGGACCTC
CAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAGTGGTCTTAAGGTCCC
CTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACCTTCAGCTCAGACACA
TCCACCAACGCCTCGATGGACTCGCCTGGGGCCGACACCCTGAATGATGG
CATCTTGAACTTGGGCATTTTGAACTTGCTATCTTTGGCTGTCACA
 G
G
 1 a0150
a0150
 1 HG02965.hp2
HG02965.hp2
 disruptive_inframe_deletion MODERATE c.7920_8414del
c.7920_8414del
 p.Val2641_Gly2805del
p.Val2641_Gly2805del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8551/18335 7920/17388 2640/5795 chr14 104947036
chr14:104947037 C
C
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8414G>A
c.8414G>A
 p.Gly2805Asp
p.Gly2805Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8551/18335 8414/17388 2805/5795 chr14 104947037
chr14:104947073 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8378C>G
c.8378C>G
 p.Ala2793Gly
p.Ala2793Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8515/18335 8378/17388 2793/5795 chr14 104947073
chr14:104947076 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8375G>C
c.8375G>C
 p.Gly2792Ala
p.Gly2792Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8512/18335 8375/17388 2792/5795 chr14 104947076
chr14:104947091 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8360G>A
c.8360G>A
 p.Arg2787Lys
p.Arg2787Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8497/18335 8360/17388 2787/5795 chr14 104947091
chr14:104947101 G
G
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.8350C>G
c.8350C>G
 p.Gln2784Glu
p.Gln2784Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8487/18335 8350/17388 2784/5795 chr14 104947101
chr14:104947116 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8335A>G
c.8335A>G
 p.Met2779Val
p.Met2779Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8472/18335 8335/17388 2779/5795 chr14 104947116
chr14:104947122 A
A
 G
G
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8329T>C
c.8329T>C
 p.Ser2777Pro
p.Ser2777Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8466/18335 8329/17388 2777/5795 chr14 104947122
chr14:104947131 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8320A>G
c.8320A>G
 p.Met2774Val
p.Met2774Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8457/18335 8320/17388 2774/5795 chr14 104947131
chr14:104947134 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8317A>G
c.8317A>G
 p.Lys2773Glu
p.Lys2773Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8454/18335 8317/17388 2773/5795 chr14 104947134
chr14:104947145 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8306C>T
c.8306C>T
 p.Ala2769Val
p.Ala2769Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8443/18335 8306/17388 2769/5795 chr14 104947145
chr14:104947148 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8303C>G
c.8303C>G
 p.Thr2768Arg
p.Thr2768Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8440/18335 8303/17388 2768/5795 chr14 104947148
chr14:104947179 C
C
 G
G
 4 a0028
a0064
a0068
others(1): Show 
a0028
a0064
a0068
a0133
 5 HG02630.hp1
HG02630.hp2
HG02896.hp1
others(2): Show 
HG02630.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8272G>C
c.8272G>C
 p.Val2758Leu
p.Val2758Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8409/18335 8272/17388 2758/5795 chr14 104947179
chr14:104947180 G
G
 C
C
 4 a0028
a0064
a0068
others(1): Show 
a0028
a0064
a0068
a0133
 5 HG02630.hp1
HG02630.hp2
HG02896.hp1
others(2): Show 
HG02630.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8271C>G
c.8271C>G
 p.Asn2757Lys
p.Asn2757Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8408/18335 8271/17388 2757/5795 chr14 104947180
chr14:104947194 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.8257G>A
c.8257G>A
 p.Val2753Ile
p.Val2753Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8394/18335 8257/17388 2753/5795 chr14 104947194
chr14:104947214 A
A
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.8237T>A
c.8237T>A
 p.Leu2746His
p.Leu2746His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8374/18335 8237/17388 2746/5795 chr14 104947214
chr14:104947224 C
C
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8227G>A
c.8227G>A
 p.Glu2743Lys
p.Glu2743Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8364/18335 8227/17388 2743/5795 chr14 104947224
chr14:104947229 A
A
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8222T>C
c.8222T>C
 p.Met2741Thr
p.Met2741Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8359/18335 8222/17388 2741/5795 chr14 104947229
chr14:104947234 G
G
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8217C>A
c.8217C>A
 p.Phe2739Leu
p.Phe2739Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8354/18335 8217/17388 2739/5795 chr14 104947234
chr14:104947248 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8203C>G
c.8203C>G
 p.Gln2735Glu
p.Gln2735Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8340/18335 8203/17388 2735/5795 chr14 104947248
chr14:104947251 G
G
 C
C
 2 a0028
a0064
a0028
a0064
 3 HG02896.hp1
HG02897.hp2
HG03130.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8200C>G
c.8200C>G
 p.Leu2734Val
p.Leu2734Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8337/18335 8200/17388 2734/5795 chr14 104947251
chr14:104947292 T
T
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8159A>C
c.8159A>C
 p.His2720Pro
p.His2720Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8296/18335 8159/17388 2720/5795 chr14 104947292
chr14:104947301 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8150C>T
c.8150C>T
 p.Pro2717Leu
p.Pro2717Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8287/18335 8150/17388 2717/5795 chr14 104947301
chr14:104947308 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8143A>G
c.8143A>G
 p.Lys2715Glu
p.Lys2715Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8280/18335 8143/17388 2715/5795 chr14 104947308
chr14:104947311 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.8140G>C
c.8140G>C
 p.Val2714Leu
p.Val2714Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8277/18335 8140/17388 2714/5795 chr14 104947311
chr14:104947320 G
G
 T
T
 2 a0055
a0205
a0055
a0205
 2 HG00733.hp1
HG02109.hp1
HG00733.hp1
HG02109.hp1
 missense_variant MODERATE c.8131C>A
c.8131C>A
 p.Gln2711Lys
p.Gln2711Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8268/18335 8131/17388 2711/5795 chr14 104947320
chr14:104947322 C
C
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8129G>T
c.8129G>T
 p.Gly2710Val
p.Gly2710Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8266/18335 8129/17388 2710/5795 chr14 104947322
chr14:104947339 T
T
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8112A>C
c.8112A>C
 p.Gln2704His
p.Gln2704His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8249/18335 8112/17388 2704/5795 chr14 104947339
chr14:104947341 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8110C>G
c.8110C>G
 p.Gln2704Glu
p.Gln2704Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8247/18335 8110/17388 2704/5795 chr14 104947341
chr14:104947356 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.8095C>G
c.8095C>G
 p.Gln2699Glu
p.Gln2699Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8232/18335 8095/17388 2699/5795 chr14 104947356
chr14:104947365 T
T
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8086A>C
c.8086A>C
 p.Ile2696Leu
p.Ile2696Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8223/18335 8086/17388 2696/5795 chr14 104947365
chr14:104947374 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8077A>G
c.8077A>G
 p.Thr2693Ala
p.Thr2693Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8214/18335 8077/17388 2693/5795 chr14 104947374
chr14:104947398 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8053C>T
c.8053C>T
 p.Pro2685Ser
p.Pro2685Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8190/18335 8053/17388 2685/5795 chr14 104947398
chr14:104947401 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.8050C>T
c.8050C>T
 p.Leu2684Phe
p.Leu2684Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8187/18335 8050/17388 2684/5795 chr14 104947401
chr14:104947406 A
A
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.8045T>G
c.8045T>G
 p.Met2682Arg
p.Met2682Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8182/18335 8045/17388 2682/5795 chr14 104947406
chr14:104947407 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8044A>G
c.8044A>G
 p.Met2682Val
p.Met2682Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8181/18335 8044/17388 2682/5795 chr14 104947407
chr14:104947424 A
A
 G
G
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8027T>C
c.8027T>C
 p.Leu2676Pro
p.Leu2676Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8164/18335 8027/17388 2676/5795 chr14 104947424
chr14:104947427 T
T
 G
G
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8024A>C
c.8024A>C
 p.Glu2675Ala
p.Glu2675Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8161/18335 8024/17388 2675/5795 chr14 104947427
chr14:104947440 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.8011G>C
c.8011G>C
 p.Val2671Leu
p.Val2671Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8148/18335 8011/17388 2671/5795 chr14 104947440
chr14:104947442 A
A
 G
G
 2 a0028
a0064
a0028
a0064
 3 HG02896.hp1
HG02897.hp2
HG03130.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.8009T>C
c.8009T>C
 p.Leu2670Ser
p.Leu2670Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8146/18335 8009/17388 2670/5795 chr14 104947442
chr14:104947445 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.8006C>T
c.8006C>T
 p.Ala2669Val
p.Ala2669Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8143/18335 8006/17388 2669/5795 chr14 104947445
chr14:104947454 G
G
 A
A
 3 a0004
a0056
a0058
a0004
a0056
a0058
 11 HG00438.hp2
HG00558.hp1
HG02698.hp2
others(8): Show 
HG00438.hp2
HG00558.hp1
HG02698.hp2
HG03710.hp2
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.7997C>T
c.7997C>T
 p.Ser2666Phe
p.Ser2666Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8134/18335 7997/17388 2666/5795 chr14 104947454
chr14:104947457 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7994A>G
c.7994A>G
 p.Glu2665Gly
p.Glu2665Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8131/18335 7994/17388 2665/5795 chr14 104947457
chr14:104947458 C
C
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7993G>A
c.7993G>A
 p.Glu2665Lys
p.Glu2665Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8130/18335 7993/17388 2665/5795 chr14 104947458
chr14:104947476 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7975A>G
c.7975A>G
 p.Arg2659Gly
p.Arg2659Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8112/18335 7975/17388 2659/5795 chr14 104947476
chr14:104947530 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7921G>A
c.7921G>A
 p.Val2641Met
p.Val2641Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8058/18335 7921/17388 2641/5795 chr14 104947530
chr14:104947532 C
C
 G
G
 2 a0069
a0080
a0069
a0080
 2 HG03195.hp2
NA20129.hp1
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.7919G>C
c.7919G>C
 p.Gly2640Ala
p.Gly2640Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8056/18335 7919/17388 2640/5795 chr14 104947532
chr14:104947532 C
C
 T
T
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7919G>A
c.7919G>A
 p.Gly2640Asp
p.Gly2640Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8056/18335 7919/17388 2640/5795 chr14 104947532
chr14:104947537 G
G
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7914C>A
c.7914C>A
 p.Asp2638Glu
p.Asp2638Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8051/18335 7914/17388 2638/5795 chr14 104947537
chr14:104947584 C
C
 T
T
 1 a0027
a0027
 2 HG02027.hp2
HG02132.hp1
HG02027.hp2
HG02132.hp1
 missense_variant MODERATE c.7867G>A
c.7867G>A
 p.Ala2623Thr
p.Ala2623Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8004/18335 7867/17388 2623/5795 chr14 104947584
chr14:104947587 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7864A>G
c.7864A>G
 p.Arg2622Gly
p.Arg2622Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8001/18335 7864/17388 2622/5795 chr14 104947587
chr14:104947596 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7855C>G
c.7855C>G
 p.Gln2619Glu
p.Gln2619Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7992/18335 7855/17388 2619/5795 chr14 104947596
chr14:104947611 T
T
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7840A>G
c.7840A>G
 p.Met2614Val
p.Met2614Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7977/18335 7840/17388 2614/5795 chr14 104947611
chr14:104947614 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7837A>G
c.7837A>G
 p.Ser2613Gly
p.Ser2613Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7974/18335 7837/17388 2613/5795 chr14 104947614
chr14:104947617 A
A
 G
G
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7834T>C
c.7834T>C
 p.Ser2612Pro
p.Ser2612Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7971/18335 7834/17388 2612/5795 chr14 104947617
chr14:104947619 A
A
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7832T>A
c.7832T>A
 p.Leu2611Gln
p.Leu2611Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7969/18335 7832/17388 2611/5795 chr14 104947619
chr14:104947626 T
T
 C
C
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7825A>G
c.7825A>G
 p.Met2609Val
p.Met2609Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7962/18335 7825/17388 2609/5795 chr14 104947626
chr14:104947629 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7822G>A
c.7822G>A
 p.Glu2608Lys
p.Glu2608Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7959/18335 7822/17388 2608/5795 chr14 104947629
chr14:104947640 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7811C>T
c.7811C>T
 p.Ala2604Val
p.Ala2604Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7948/18335 7811/17388 2604/5795 chr14 104947640
chr14:104947643 GTCACTTC
others(488): Show 
GTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACATC
TAGCTGGGGGCCCTTGAGGTCCATTTCAGGCATCTTGAAACTGGGCATCT
GCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGCACAGGGCCC
TCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCGGA
AGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGG
AGAGGCTCCCGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGGCC
TCGATGGACTTGCCTGGGGCAGACACCCCGAATGACGGCATCTTGAACTT
GGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATCCTTGTCCGCCACAG
ACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCTCCCGGGGCCTCG
ACATCCACCTCCACGCTGGGCTGAGACACCTCCACGTCGGGGGCCA
 G
G
 2 a0063
a0159
a0063
a0159
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 disruptive_inframe_deletion MODERATE c.7313_7807del
c.7313_7807del
 p.Met2438_Val2602del
p.Met2438_Val2602del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7944/18335 7313/17388 2438/5795 chr14 104947643
chr14:104947648 T
T
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7803A>C
c.7803A>C
 p.Glu2601Asp
p.Glu2601Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7940/18335 7803/17388 2601/5795 chr14 104947648
chr14:104947653 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7798G>A
c.7798G>A
 p.Ala2600Thr
p.Ala2600Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7935/18335 7798/17388 2600/5795 chr14 104947653
chr14:104947661 C
C
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7790G>T
c.7790G>T
 p.Gly2597Val
p.Gly2597Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7927/18335 7790/17388 2597/5795 chr14 104947661
chr14:104947674 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7777C>G
c.7777C>G
 p.Leu2593Val
p.Leu2593Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7914/18335 7777/17388 2593/5795 chr14 104947674
chr14:104947675 C
C
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7776G>C
c.7776G>C
 p.Lys2592Asn
p.Lys2592Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7913/18335 7776/17388 2592/5795 chr14 104947675
chr14:104947689 C
C
 T
T
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7762G>A
c.7762G>A
 p.Val2588Ile
p.Val2588Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7899/18335 7762/17388 2588/5795 chr14 104947689
chr14:104947695 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7756C>G
c.7756C>G
 p.Leu2586Val
p.Leu2586Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7893/18335 7756/17388 2586/5795 chr14 104947695
chr14:104947695 G
G
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7756C>A
c.7756C>A
 p.Leu2586Ile
p.Leu2586Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7893/18335 7756/17388 2586/5795 chr14 104947695
chr14:104947704 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7747G>A
c.7747G>A
 p.Gly2583Ser
p.Gly2583Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7884/18335 7747/17388 2583/5795 chr14 104947704
chr14:104947709 A
A
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7742T>A
c.7742T>A
 p.Leu2581His
p.Leu2581His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7879/18335 7742/17388 2581/5795 chr14 104947709
chr14:104947714 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7737G>A
c.7737G>A
 p.Met2579Ile
p.Met2579Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7874/18335 7737/17388 2579/5795 chr14 104947714
chr14:104947714 CATTTCAG
others(488): Show 
CATTTCAGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTT
TGAGGCCGGCTCCCTCCGGCACAGGGCCCTCTGGGAGTTTCACGTCCACT
TGGCCAGCCTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTC
AGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGGCTCCCGTCGGCCTCCA
CCTTCGGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA
GACACCCCGAATGACGGCATCTTGAACTTGGGAATTTTGAACCTGCTGTC
TTTGGTAGTCACATCCTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACG
CACCATCCAGCTTGGCTCCCGGGGCCTCGACATCCACCTCCACGCTGGGC
TGAGACACCTCCACGTCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAG
GTCCAGCTTGGGGCCCTTGACATCTATCTGGGGGCCCTTGAGATCT
 C
C
 1 a0146
a0146
 1 HG03516.hp1
HG03516.hp1
 disruptive_inframe_deletion MODERATE c.7242_7736del
c.7242_7736del
 p.Asp2415_Met2579del
p.Asp2415_Met2579del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7873/18335 7242/17388 2414/5795 chr14 104947714
chr14:104947716 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7735A>G
c.7735A>G
 p.Met2579Val
p.Met2579Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7872/18335 7735/17388 2579/5795 chr14 104947716
chr14:104947719 C
C
 T
T
 2 a0028
a0133
a0028
a0133
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7732G>A
c.7732G>A
 p.Glu2578Lys
p.Glu2578Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7869/18335 7732/17388 2578/5795 chr14 104947719
chr14:104947743 G
G
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7708C>G
c.7708C>G
 p.Gln2570Glu
p.Gln2570Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7845/18335 7708/17388 2570/5795 chr14 104947743
chr14:104947746 C
C
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7705G>T
c.7705G>T
 p.Val2569Leu
p.Val2569Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7842/18335 7705/17388 2569/5795 chr14 104947746
chr14:104947746 C
C
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7705G>C
c.7705G>C
 p.Val2569Leu
p.Val2569Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7842/18335 7705/17388 2569/5795 chr14 104947746
chr14:104947781 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7670C>T
c.7670C>T
 p.Pro2557Leu
p.Pro2557Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7807/18335 7670/17388 2557/5795 chr14 104947781
chr14:104947787 G
G
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7664C>A
c.7664C>A
 p.Pro2555His
p.Pro2555His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7801/18335 7664/17388 2555/5795 chr14 104947787
chr14:104947805 A
A
 C
C
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7646T>G
c.7646T>G
 p.Val2549Gly
p.Val2549Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7783/18335 7646/17388 2549/5795 chr14 104947805
chr14:104947834 G
G
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7617C>A
c.7617C>A
 p.Asp2539Glu
p.Asp2539Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7754/18335 7617/17388 2539/5795 chr14 104947834
chr14:104947836 C
C
 G
G
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7615G>C
c.7615G>C
 p.Asp2539His
p.Asp2539His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7752/18335 7615/17388 2539/5795 chr14 104947836
chr14:104947847 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7604C>T
c.7604C>T
 p.Pro2535Leu
p.Pro2535Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7741/18335 7604/17388 2535/5795 chr14 104947847
chr14:104947851 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7600C>G
c.7600C>G
 p.Gln2534Glu
p.Gln2534Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7737/18335 7600/17388 2534/5795 chr14 104947851
chr14:104947860 G
G
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7591C>A
c.7591C>A
 p.Leu2531Ile
p.Leu2531Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7728/18335 7591/17388 2531/5795 chr14 104947860
chr14:104947868 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7583C>A
c.7583C>A
 p.Ala2528Asp
p.Ala2528Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7720/18335 7583/17388 2528/5795 chr14 104947868
chr14:104947869 C
C
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7582G>A
c.7582G>A
 p.Ala2528Thr
p.Ala2528Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7719/18335 7582/17388 2528/5795 chr14 104947869
chr14:104947893 A
A
 G
G
 9 a0009
a0028
a0031
others(6): Show 
a0009
a0028
a0031
a0064
a0127
a0133
a0162
a0164
a0204
 14 HG02559.hp2
HG02630.hp2
HG02723.hp2
others(11): Show 
HG02559.hp2
HG02630.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03471.hp2
HG03491.hp1
HG03492.hp1
NA18986.hp1
NA19000.hp2
NA19011.hp1
NA19063.hp1
NA19074.hp1
 missense_variant MODERATE c.7558T>C
c.7558T>C
 p.Ser2520Pro
p.Ser2520Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7695/18335 7558/17388 2520/5795 chr14 104947893
chr14:104947901 C
C
 A
A
 95 a0001
a0004
a0006
others(92): Show 
a0001
a0004
a0006
a0009
a0010
a0016
a0017
a0018
a0019
a0020
a0022
a0025
a0026
a0027
a0028
a0031
a0032
a0034
a0035
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0066
a0067
a0068
a0069
a0071
a0072
a0073
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0105
a0108
a0110
a0111
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0173
a0180
a0195
a0196
a0203
a0205
a0207
a0211
 158 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(155): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7550G>T
c.7550G>T
 p.Gly2517Val
p.Gly2517Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7687/18335 7550/17388 2517/5795 chr14 104947901
chr14:104947902 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7549G>A
c.7549G>A
 p.Gly2517Arg
p.Gly2517Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7686/18335 7549/17388 2517/5795 chr14 104947902
chr14:104947913 A
A
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7538T>C
c.7538T>C
 p.Val2513Ala
p.Val2513Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7675/18335 7538/17388 2513/5795 chr14 104947913
chr14:104947919 G
G
 A
A
 2 a0028
a0064
a0028
a0064
 3 HG02896.hp1
HG02897.hp2
HG03130.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7532C>T
c.7532C>T
 p.Pro2511Leu
p.Pro2511Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7669/18335 7532/17388 2511/5795 chr14 104947919
chr14:104947922 G
G
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7529C>A
c.7529C>A
 p.Ala2510Glu
p.Ala2510Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7666/18335 7529/17388 2510/5795 chr14 104947922
chr14:104947937 G
G
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7514C>T
c.7514C>T
 p.Ser2505Leu
p.Ser2505Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7651/18335 7514/17388 2505/5795 chr14 104947937
chr14:104947940 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7511C>T
c.7511C>T
 p.Ala2504Val
p.Ala2504Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7648/18335 7511/17388 2504/5795 chr14 104947940
chr14:104947943 T
T
 G
G
 180 a0001
a0004
a0005
others(177): Show 
a0001
a0004
a0005
a0006
a0007
a0009
a0010
a0011
a0012
a0014
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0046
a0051
a0052
a0053
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
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
a0124
a0125
a0126
a0127
a0128
a0129
a0130
a0131
a0132
a0134
a0135
a0136
a0137
a0138
a0139
a0140
a0141
a0142
a0143
a0144
a0145
a0148
a0149
a0150
a0151
a0152
a0153
a0154
a0155
a0156
a0157
a0158
a0160
a0161
a0162
a0163
a0164
a0165
a0166
a0167
a0168
a0169
a0170
a0171
a0173
a0175
a0179
a0180
a0182
a0183
a0188
a0189
a0190
a0191
a0192
a0193
a0194
a0195
a0196
a0197
a0199
a0201
a0203
a0204
a0205
a0206
a0207
a0208
a0209
a0210
a0211
 285 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(282): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02004.hp1
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02132.hp1
HG02148.hp1
HG02148.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7508A>C
c.7508A>C
 p.Glu2503Ala
p.Glu2503Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7645/18335 7508/17388 2503/5795 chr14 104947943
chr14:104947944 C
C
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7507G>C
c.7507G>C
 p.Glu2503Gln
p.Glu2503Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7644/18335 7507/17388 2503/5795 chr14 104947944
chr14:104947953 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7498A>G
c.7498A>G
 p.Lys2500Glu
p.Lys2500Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7635/18335 7498/17388 2500/5795 chr14 104947953
chr14:104947967 A
A
 G
G
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7484T>C
c.7484T>C
 p.Val2495Ala
p.Val2495Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7621/18335 7484/17388 2495/5795 chr14 104947967
chr14:104947971 C
C
 T
T
 2 a0028
a0064
a0028
a0064
 3 HG02896.hp1
HG02897.hp2
HG03130.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7480G>A
c.7480G>A
 p.Gly2494Arg
p.Gly2494Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7617/18335 7480/17388 2494/5795 chr14 104947971
chr14:104947973 A
A
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7478T>A
c.7478T>A
 p.Phe2493Tyr
p.Phe2493Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7615/18335 7478/17388 2493/5795 chr14 104947973
chr14:104947979 G
G
 A
A
 3 a0034
a0132
a0195
a0034
a0132
a0195
 4 HG03098.hp2
HG03225.hp1
HG03540.hp1
others(1): Show 
HG03098.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 missense_variant MODERATE c.7472C>T
c.7472C>T
 p.Pro2491Leu
p.Pro2491Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7609/18335 7472/17388 2491/5795 chr14 104947979
chr14:104947996 A
A
 C
C
 8 a0015
a0028
a0046
others(5): Show 
a0015
a0028
a0046
a0064
a0133
a0170
a0182
a0183
 13 HG00642.hp2
HG00738.hp1
HG01261.hp2
others(10): Show 
HG00642.hp2
HG00738.hp1
HG01261.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02148.hp2
HG02273.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7455T>G
c.7455T>G
 p.Ile2485Met
p.Ile2485Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7592/18335 7455/17388 2485/5795 chr14 104947996
chr14:104948006 C
C
 T
T
 6 a0028
a0064
a0069
others(3): Show 
a0028
a0064
a0069
a0080
a0081
a0133
 7 HG01167.hp2
HG02630.hp2
HG02896.hp1
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.7445G>A
c.7445G>A
 p.Arg2482Lys
p.Arg2482Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7582/18335 7445/17388 2482/5795 chr14 104948006
chr14:104948019 T
T
 C
C
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7432A>G
c.7432A>G
 p.Thr2478Ala
p.Thr2478Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7569/18335 7432/17388 2478/5795 chr14 104948019
chr14:104948027 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7424A>G
c.7424A>G
 p.Asp2475Gly
p.Asp2475Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7561/18335 7424/17388 2475/5795 chr14 104948027
chr14:104948040 C
C
 G
G
 5 a0028
a0048
a0064
others(2): Show 
a0028
a0048
a0064
a0133
a0175
 7 HG00733.hp2
HG01123.hp2
HG01934.hp2
others(4): Show 
HG00733.hp2
HG01123.hp2
HG01934.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7411G>C
c.7411G>C
 p.Val2471Leu
p.Val2471Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7548/18335 7411/17388 2471/5795 chr14 104948040
chr14:104948061 A
A
 G
G
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7390T>C
c.7390T>C
 p.Trp2464Arg
p.Trp2464Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7527/18335 7390/17388 2464/5795 chr14 104948061
chr14:104948082 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7369G>A
c.7369G>A
 p.Gly2457Arg
p.Gly2457Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7506/18335 7369/17388 2457/5795 chr14 104948082
chr14:104948091 C
C
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7360G>C
c.7360G>C
 p.Glu2454Gln
p.Glu2454Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7497/18335 7360/17388 2454/5795 chr14 104948091
chr14:104948106 C
C
 T
T
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7345G>A
c.7345G>A
 p.Val2449Met
p.Val2449Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7482/18335 7345/17388 2449/5795 chr14 104948106
chr14:104948109 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7342A>G
c.7342A>G
 p.Ser2448Gly
p.Ser2448Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7479/18335 7342/17388 2448/5795 chr14 104948109
chr14:104948112 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7339C>T
c.7339C>T
 p.Pro2447Ser
p.Pro2447Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7476/18335 7339/17388 2447/5795 chr14 104948112
chr14:104948114 T
T
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7337A>T
c.7337A>T
 p.Gln2446Leu
p.Gln2446Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7474/18335 7337/17388 2446/5795 chr14 104948114
chr14:104948121 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7330G>A
c.7330G>A
 p.Val2444Met
p.Val2444Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7467/18335 7330/17388 2444/5795 chr14 104948121
chr14:104948137 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7314G>A
c.7314G>A
 p.Met2438Ile
p.Met2438Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7451/18335 7314/17388 2438/5795 chr14 104948137
chr14:104948138 A
A
 G
G
 3 a0028
a0064
a0133
a0028
a0064
a0133
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 missense_variant MODERATE c.7313T>C
c.7313T>C
 p.Met2438Thr
p.Met2438Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7450/18335 7313/17388 2438/5795 chr14 104948138
chr14:104948143 G
G
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7308C>A
c.7308C>A
 p.Asp2436Glu
p.Asp2436Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7445/18335 7308/17388 2436/5795 chr14 104948143
chr14:104948147 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7304C>T
c.7304C>T
 p.Thr2435Met
p.Thr2435Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7441/18335 7304/17388 2435/5795 chr14 104948147
chr14:104948148 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7303A>G
c.7303A>G
 p.Thr2435Ala
p.Thr2435Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7440/18335 7303/17388 2435/5795 chr14 104948148
chr14:104948184 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.7267G>A
c.7267G>A
 p.Val2423Ile
p.Val2423Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7404/18335 7267/17388 2423/5795 chr14 104948184
chr14:104948190 T
T
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7261A>C
c.7261A>C
 p.Ile2421Leu
p.Ile2421Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7398/18335 7261/17388 2421/5795 chr14 104948190
chr14:104948204 A
A
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7247T>G
c.7247T>G
 p.Leu2416Arg
p.Leu2416Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7384/18335 7247/17388 2416/5795 chr14 104948204
chr14:104948211 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7240G>A
c.7240G>A
 p.Val2414Ile
p.Val2414Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7377/18335 7240/17388 2414/5795 chr14 104948211
chr14:104948214 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7237A>G
c.7237A>G
 p.Lys2413Glu
p.Lys2413Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7374/18335 7237/17388 2413/5795 chr14 104948214
chr14:104948222 T
T
 C
C
 13 a0032
a0034
a0102
others(10): Show 
a0032
a0034
a0102
a0103
a0125
a0126
a0127
a0128
a0131
a0132
a0157
a0195
a0203
 15 HG02258.hp2
HG02451.hp2
HG02559.hp2
others(12): Show 
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03486.hp2
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA20300.hp2
 missense_variant MODERATE c.7229A>G
c.7229A>G
 p.Lys2410Arg
p.Lys2410Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7366/18335 7229/17388 2410/5795 chr14 104948222
chr14:104948241 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7210C>G
c.7210C>G
 p.Leu2404Val
p.Leu2404Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7347/18335 7210/17388 2404/5795 chr14 104948241
chr14:104948270 C
C
 T
T
 1 a0062
a0062
 1 HG03453.hp1
HG03453.hp1
 missense_variant MODERATE c.7181G>A
c.7181G>A
 p.Gly2394Glu
p.Gly2394Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7318/18335 7181/17388 2394/5795 chr14 104948270
chr14:104948282 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7169C>A
c.7169C>A
 p.Pro2390His
p.Pro2390His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7306/18335 7169/17388 2390/5795 chr14 104948282
chr14:104948292 G
G
 A
A
 108 a0001
a0004
a0006
others(105): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0065
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0149
a0157
a0170
a0173
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 181 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(178): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.7159C>T
c.7159C>T
 p.Pro2387Ser
p.Pro2387Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7296/18335 7159/17388 2387/5795 chr14 104948292
chr14:104948301 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7150G>C
c.7150G>C
 p.Val2384Leu
p.Val2384Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7287/18335 7150/17388 2384/5795 chr14 104948301
chr14:104948329 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7122C>A
c.7122C>A
 p.Asp2374Glu
p.Asp2374Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7259/18335 7122/17388 2374/5795 chr14 104948329
chr14:104948331 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7120G>C
c.7120G>C
 p.Asp2374His
p.Asp2374His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7257/18335 7120/17388 2374/5795 chr14 104948331
chr14:104948332 AGCGGAAG
others(488): Show 
AGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCA
TGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCCGCT
GAGGCCTCGATGGACTTGCCAAGGGCAGACACCCCAAACGACAGCATCTT
GAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGG
CCAGGGACATGTCCCCCTCCAGCCGCGCACCATCCAGCTTGGCTCCTGGG
GCCTTGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGC
TGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGT
CTATTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATC
TGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCC
CTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCG
 A
A
 1 a0173
a0173
 1 NA18999.hp2
NA18999.hp2
 disruptive_inframe_deletion MODERATE c.6624_7118del
c.6624_7118del
 p.Asp2209_Ala2373del
p.Asp2209_Ala2373del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7255/18335 6624/17388 2208/5795 chr14 104948332
chr14:104948346 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7105C>G
c.7105C>G
 p.Gln2369Glu
p.Gln2369Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7242/18335 7105/17388 2369/5795 chr14 104948346
chr14:104948349 C
C
 CGCTGAGG
others(488): Show 
CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG
TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT
GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA
ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC
TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC
CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG
GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG
AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG
CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT
CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT
 2 a0208
a0209
a0208
a0209
 2 HG02572.hp2
HG02647.hp2
HG02572.hp2
HG02647.hp2
 conservative_inframe_insertion MODERATE c.6607_7101dupATTCAG
others(489): Show 
c.6607_7101dupATTCAGCCCCTTTCCGCCGACGTGAAGGTCCAGGCT
GGCCAGGTGGACGTGAAACTCCTGGAGGGCCCTGTGCCCGAGGAAGTCGG
CCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAGGTGCCCA
AAGTGGACCTCAAGGGCCCCGAAATAGACATCAAGGGCCCCAAGCTGGAC
CTAAAAGACCCCAAGGTGGAAGTGACAGCCCCTGATGTGGAGGTGTCTCT
GCCCAGCGTGGAGGTGGACGTCAAGGCCCCAGGAGCCAAGCTGGATGGTG
CGCGGCTGGAGGGGGACATGTCCCTGGCCGACAAGGACGTGACTGCCAAA
GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCTGTCGTTTGGGGTGTC
TGCCCTTGGCAAGTCCATCGAGGCCTCAGCGGATGTGTCTGCGTTGAAGG
TGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACT
GACCTCAGC
 p.Ser2367_Val2368ins
others(495): Show 
p.Ser2367_Val2368insIleGlnProLeuSerAlaAspValLysVal
GlnAlaGlyGlnValAspValLysLeuLeuGluGlyProValProGluGl
uValGlyLeuLysGlyHisLeuProLysLeuGlnMetProSerPheLysV
alProLysValAspLeuLysGlyProGluIleAspIleLysGlyProLys
LeuAspLeuLysAspProLysValGluValThrAlaProAspValGluVa
lSerLeuProSerValGluValAspValLysAlaProGlyAlaLysLeuA
spGlyAlaArgLeuGluGlyAspMetSerLeuAlaAspLysAspValThr
AlaLysAspSerLysPheLysMetProLysPheLysMetLeuSerPheGl
yValSerAlaLeuGlyLysSerIleGluAlaSerAlaAspValSerAlaL
euLysValGluAlaAspValSerLeuProSerMetGlnGlyAspLeuLys
ThrThrAspLeuSer
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7238/18335 7101/17388 2367/5795 chr14 104948349
chr14:104948349 C
C
 T
T
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7102G>A
c.7102G>A
 p.Val2368Ile
p.Val2368Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7239/18335 7102/17388 2368/5795 chr14 104948349
chr14:104948349 CGCTGAGG
others(488): Show 
CGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACG
TCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTT
GCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGA
ACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCC
TCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTC
CACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGG
GGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTG
AGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTG
CCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGT
CCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAAT
 C
C
 4 a0026
a0072
a0073
others(1): Show 
a0026
a0072
a0073
a0085
 5 HG01099.hp2
HG01255.hp2
HG02258.hp1
others(2): Show 
HG01099.hp2
HG01255.hp2
HG02258.hp1
HG02717.hp1
HG03041.hp2
 conservative_inframe_deletion MODERATE c.6607_7101del
c.6607_7101del
 p.Ile2203_Ser2367del
p.Ile2203_Ser2367del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7238/18335 6607/17388 2203/5795 chr14 104948349
chr14:104948355 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7096C>A
c.7096C>A
 p.Leu2366Ile
p.Leu2366Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7233/18335 7096/17388 2366/5795 chr14 104948355
chr14:104948364 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7087A>G
c.7087A>G
 p.Thr2363Ala
p.Thr2363Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7224/18335 7087/17388 2363/5795 chr14 104948364
chr14:104948388 G
G
 A
A
 2 a0064
a0120
a0064
a0120
 2 HG00099.hp2
HG03130.hp1
HG00099.hp2
HG03130.hp1
 missense_variant MODERATE c.7063C>T
c.7063C>T
 p.Pro2355Ser
p.Pro2355Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7200/18335 7063/17388 2355/5795 chr14 104948388
chr14:104948396 A
A
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7055T>G
c.7055T>G
 p.Val2352Gly
p.Val2352Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7192/18335 7055/17388 2352/5795 chr14 104948396
chr14:104948397 C
C
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.7054G>A
c.7054G>A
 p.Val2352Met
p.Val2352Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7191/18335 7054/17388 2352/5795 chr14 104948397
chr14:104948398 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7053C>A
c.7053C>A
 p.Asp2351Glu
p.Asp2351Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7190/18335 7053/17388 2351/5795 chr14 104948398
chr14:104948400 C
C
 T
T
 1 a0147
a0147
 1 HG03017.hp1
HG03017.hp1
 missense_variant MODERATE c.7051G>A
c.7051G>A
 p.Asp2351Asn
p.Asp2351Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7188/18335 7051/17388 2351/5795 chr14 104948400
chr14:104948404 CTCCACCT
others(1973): Show 
CTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACTTGCCAA
GGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTGAACTTG
CTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTCCCCCTCCAG
CCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTCCACCTCCACGC
TGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCT
TTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTC
CACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTT
TGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACC
TGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTC
AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA
CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA
GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC
TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG
CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC
AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG
GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT
TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG
CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC
AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG
TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG
GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC
CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG
CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA
TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA
CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA
GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC
ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC
TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT
GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTG
AGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGC
AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGA
ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC
ACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAG
CTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCT
CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG
GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT
CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT
CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC
TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC
CCCCTGCATGGAGGGGAGGCTCACATCAGCT
 C
C
 1 a0120
a0120
 1 HG00099.hp2
HG00099.hp2
 disruptive_inframe_deletion MODERATE c.5067_7046del
c.5067_7046del
 p.Ala1690_Glu2349del
p.Ala1690_Glu2349del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7183/18335 5067/17388 1689/5795 chr14 104948404
chr14:104948413 C
C
 G
G
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.7038G>C
c.7038G>C
 p.Leu2346Phe
p.Leu2346Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7175/18335 7038/17388 2346/5795 chr14 104948413
chr14:104948414 A
A
 G
G
 3 a0064
a0071
a0133
a0064
a0071
a0133
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7037T>C
c.7037T>C
 p.Leu2346Ser
p.Leu2346Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7174/18335 7037/17388 2346/5795 chr14 104948414
chr14:104948418 C
C
 G
G
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.7033G>C
c.7033G>C
 p.Ala2345Pro
p.Ala2345Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7170/18335 7033/17388 2345/5795 chr14 104948418
chr14:104948429 G
G
 A
A
 4 a0064
a0071
a0133
others(1): Show 
a0064
a0071
a0133
a0203
 4 HG02257.hp1
HG02451.hp2
HG02630.hp2
others(1): Show 
HG02257.hp1
HG02451.hp2
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.7022C>T
c.7022C>T
 p.Ala2341Val
p.Ala2341Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7159/18335 7022/17388 2341/5795 chr14 104948429
chr14:104948435 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.7016C>T
c.7016C>T
 p.Ala2339Val
p.Ala2339Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7153/18335 7016/17388 2339/5795 chr14 104948435
chr14:104948438 T
T
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.7013A>C
c.7013A>C
 p.Glu2338Ala
p.Glu2338Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7150/18335 7013/17388 2338/5795 chr14 104948438
chr14:104948453 A
A
 G
G
 110 a0001
a0004
a0006
others(107): Show 
a0001
a0004
a0006
a0008
a0009
a0010
a0011
a0015
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0027
a0029
a0030
a0031
a0032
a0034
a0035
a0036
a0046
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0065
a0066
a0068
a0069
a0070
a0071
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0121
a0122
a0123
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0149
a0157
a0170
a0174
a0179
a0180
a0182
a0183
a0184
a0191
a0195
a0196
a0203
a0204
a0205
a0207
a0211
 188 HG00099.hp1
HG00323.hp1
HG00438.hp2
others(185): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp2
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.6998T>C
c.6998T>C
 p.Leu2333Pro
p.Leu2333Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7135/18335 6998/17388 2333/5795 chr14 104948453
chr14:104948474 A
A
 G
G
 4 a0064
a0071
a0133
others(1): Show 
a0064
a0071
a0133
a0172
 4 HG02257.hp1
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG03669.hp1
 missense_variant MODERATE c.6977T>C
c.6977T>C
 p.Leu2326Pro
p.Leu2326Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7114/18335 6977/17388 2326/5795 chr14 104948474
chr14:104948485 C
C
 CTTGGGCA
others(488): Show 
CTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCACGTCCTTGTTGGCCA
GGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCC
TGGACATCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCT
CACTTCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCA
CCTGGGGGCCCTTGAGGTCCACTTCGGGCATCTTCAAACTGGGCATCTCC
ACCTTGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACCTGGCCCTC
CGGGAGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG
GGGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGG
AGACTCACGTCGGCCTCCACCTTGGGTGCAGGCACATCCACCGAGGCCTC
GATGGACCTCCCTGGGGCCGATACCCCGAACGACGGCATCTTGAAT
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 disruptive_inframe_insertion MODERATE c.6965_6966insATTCAA
others(489): Show 
c.6965_6966insATTCAAGATGCCGTCGTTCGGGGTATCGGCCCCAGG
GAGGTCCATCGAGGCCTCGGTGGATGTGCCTGCACCCAAGGTGGAGGCCG
ACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGC
ATTCAGCCCCCTTCTGCCGACCTGAAGGTCCAGACTGGCCAGGTGGATGT
GAAGCTCCCGGAGGGCCAGGTGCCCGAGGGAGCTGGCCTCAAAGGGCACC
TGCCCAAGGTGGAGATGCCCAGTTTGAAGATGCCCGAAGTGGACCTCAAG
GGCCCCCAGGTGGACATCAAGGGCCCCAAACTGGACCTAAAAGACCCCAA
GGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCATGGAGG
TGGATGTCCAGGCCCCAAGAGCCAAGCTGGATAGTGCGCATCTGCAGGGG
GACCTGACCCTGGCCAACAAGGACGTGACTACCAAAGACAGCAAGTTCAA
AATGCCCAA
 p.Lys2322_Phe2323ins
others(495): Show 
p.Lys2322_Phe2323insPheLysMetProSerPheGlyValSerAla
ProGlyArgSerIleGluAlaSerValAspValProAlaProLysValGl
uAlaAspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspL
euSerIleGlnProProSerAlaAspLeuLysValGlnThrGlyGlnVal
AspValLysLeuProGluGlyGlnValProGluGlyAlaGlyLeuLysGl
yHisLeuProLysValGluMetProSerLeuLysMetProGluValAspL
euLysGlyProGlnValAspIleLysGlyProLysLeuAspLeuLysAsp
ProLysValGluValArgValProAspValGluValSerLeuProSerMe
tGluValAspValGlnAlaProArgAlaLysLeuAspSerAlaHisLeuG
lnGlyAspLeuThrLeuAlaAsnLysAspValThrThrLysAspSerLys
PheLysMetProLys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7102/18335 6965/17388 2322/5795 chr14 104948485
chr14:104948491 C
C
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6960G>T
c.6960G>T
 p.Met2320Ile
p.Met2320Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7097/18335 6960/17388 2320/5795 chr14 104948491
chr14:104948501 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6950A>G
c.6950A>G
 p.Lys2317Arg
p.Lys2317Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7087/18335 6950/17388 2317/5795 chr14 104948501
chr14:104948508 C
C
 A
A
 1 a0079
a0079
 1 HG03098.hp1
HG03098.hp1
 missense_variant MODERATE c.6943G>T
c.6943G>T
 p.Asp2315Tyr
p.Asp2315Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7080/18335 6943/17388 2315/5795 chr14 104948508
chr14:104948514 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6937G>A
c.6937G>A
 p.Ala2313Thr
p.Ala2313Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7074/18335 6937/17388 2313/5795 chr14 104948514
chr14:104948520 C
C
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6931G>A
c.6931G>A
 p.Val2311Met
p.Val2311Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7068/18335 6931/17388 2311/5795 chr14 104948520
chr14:104948535 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6916C>G
c.6916C>G
 p.Leu2306Val
p.Leu2306Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7053/18335 6916/17388 2306/5795 chr14 104948535
chr14:104948541 T
T
 G
G
 3 a0064
a0071
a0133
a0064
a0071
a0133
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.6910A>C
c.6910A>C
 p.Met2304Leu
p.Met2304Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7047/18335 6910/17388 2304/5795 chr14 104948541
chr14:104948543 T
T
 TCCCCCTC
others(489): Show 
TCCCCCTCCAGCCGCGCACCATCCAGCTTGGCTCCTGGGGCCTTGACGTC
CACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCA
CCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGG
CCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGG
CAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTT
TCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGA
ATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAC
GTCGGCCTCCACCTTCAACGCAGACACATCCGCTGAGGCCTCGATGGACT
TGCCAAGGGCAGACACCCCAAACGACAGCATCTTGAACTTGGGCATTTTG
AACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGGACATGTC
 1 a0210
a0210
 1 HG02615.hp2
HG02615.hp2
 frameshift_variant&stop_gained HIGH c.6907_6908insGACATG
others(490): Show 
c.6907_6908insGACATGTCCCTGGCCGACAAGGACGTGACTGCCAAA
GACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCTGTCGTTTGGGGTGTC
TGCCCTTGGCAAGTCCATCGAGGCCTCAGCGGATGTGTCTGCGTTGAAGG
TGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGGGACCTCAAGACCACT
GACCTCAGCATTCAGCCCCTTTCCGCCGACGTGAAGGTCCAGGCTGGCCA
GGTGGACGTGAAACTCCTGGAGGGCCCTGTGCCCGAGGAAGTCGGCCTCA
AAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAGGTGCCCAAAGTG
GACCTCAAGGGCCCCGAAATAGACATCAAGGGCCCCAAGCTGGACCTAAA
AGACCCCAAGGTGGAAGTGACAGCCCCTGATGTGGAGGTGTCTCTGCCCA
GCGTGGAGGTGGACGTCAAGGCCCCAGGAGCCAAGCTGGATGGTGCGCGG
CTGGAGGGGG
 p.Asp2303fs
p.Asp2303fs
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7044/18335 6907/17388 2303/5795 chr14 104948543
chr14:104948556 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6895C>T
c.6895C>T
 p.Arg2299Trp
p.Arg2299Trp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7032/18335 6895/17388 2299/5795 chr14 104948556
chr14:104948573 G
G
 C
C
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6878C>G
c.6878C>G
 p.Ala2293Gly
p.Ala2293Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7015/18335 6878/17388 2293/5795 chr14 104948573
chr14:104948576 C
C
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6875G>A
c.6875G>A
 p.Gly2292Glu
p.Gly2292Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7012/18335 6875/17388 2292/5795 chr14 104948576
chr14:104948577 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6874G>A
c.6874G>A
 p.Gly2292Arg
p.Gly2292Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7011/18335 6874/17388 2292/5795 chr14 104948577
chr14:104948586 T
T
 C
C
 3 a0018
a0064
a0133
a0018
a0064
a0133
 5 HG02630.hp2
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02630.hp2
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6865A>G
c.6865A>G
 p.Lys2289Glu
p.Lys2289Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7002/18335 6865/17388 2289/5795 chr14 104948586
chr14:104948586 T
T
 G
G
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6865A>C
c.6865A>C
 p.Lys2289Gln
p.Lys2289Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7002/18335 6865/17388 2289/5795 chr14 104948586
chr14:104948589 C
C
 T
T
 4 a0074
a0075
a0076
others(1): Show 
a0074
a0075
a0076
a0197
 4 HG01884.hp2
HG02717.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02717.hp2
HG02922.hp2
NA20129.hp2
 missense_variant MODERATE c.6862G>A
c.6862G>A
 p.Val2288Ile
p.Val2288Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6999/18335 6862/17388 2288/5795 chr14 104948589
chr14:104948601 C
C
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6850G>A
c.6850G>A
 p.Val2284Met
p.Val2284Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6987/18335 6850/17388 2284/5795 chr14 104948601
chr14:104948601 CGCTGGGC
others(488): Show 
CGCTGGGCAGAGACACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGG
TCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAG
GTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCC
CTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCC
ACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAG
GTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCT
CCACCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGG
GCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCT
GTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGAT
GCGCACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCAT
 C
C
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 conservative_inframe_deletion MODERATE c.6355_6849del
c.6355_6849del
 p.Met2119_Ser2283del
p.Met2119_Ser2283del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6986/18335 6355/17388 2119/5795 chr14 104948601
chr14:104948602 G
G
 T
T
 2 a0130
a0196
a0130
a0196
 2 HG02486.hp2
HG02976.hp2
HG02486.hp2
HG02976.hp2
 missense_variant MODERATE c.6849C>A
c.6849C>A
 p.Ser2283Arg
p.Ser2283Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6986/18335 6849/17388 2283/5795 chr14 104948602
chr14:104948609 A
A
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6842T>A
c.6842T>A
 p.Leu2281Gln
p.Leu2281Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6979/18335 6842/17388 2281/5795 chr14 104948609
chr14:104948633 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6818C>T
c.6818C>T
 p.Thr2273Ile
p.Thr2273Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6955/18335 6818/17388 2273/5795 chr14 104948633
chr14:104948638 T
T
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6813A>C
c.6813A>C
 p.Glu2271Asp
p.Glu2271Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6950/18335 6813/17388 2271/5795 chr14 104948638
chr14:104948642 A
A
 G
G
 3 a0064
a0071
a0133
a0064
a0071
a0133
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.6809T>C
c.6809T>C
 p.Val2270Ala
p.Val2270Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6946/18335 6809/17388 2270/5795 chr14 104948642
chr14:104948643 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6808G>A
c.6808G>A
 p.Val2270Met
p.Val2270Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6945/18335 6808/17388 2270/5795 chr14 104948643
chr14:104948651 T
T
 C
C
 3 a0064
a0071
a0133
a0064
a0071
a0133
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.6800A>G
c.6800A>G
 p.Asp2267Gly
p.Asp2267Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6937/18335 6800/17388 2267/5795 chr14 104948651
chr14:104948656 TAGGTCCA
others(3458): Show 
TAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTCCA
CTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTG
AGGCCGACTTCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACCTG
GCCAGCCTGGACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTCAG
TGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCACC
TTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGA
CACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTT
TGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCA
CTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAG
AGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGT
CCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTG
GGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGGCC
AGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCCAG
TCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGGTC
TTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTGGG
TGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC
CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA
GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC
CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA
CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC
TTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT
CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC
CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG
ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG
GTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGCAG
ACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAAC
GACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCAC
ATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCT
TGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCC
ACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGG
GCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCA
AACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCG
GGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTC
CAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCC
CCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACA
TCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGG
CATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCT
TGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCT
CTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATC
GGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCT
TAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTG
GGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACAC
AGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGT
CAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGC
ATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCAC
TGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCT
TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCG
GCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGG
GGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGG
CTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATG
TCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCAT
CTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGC
CCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTG
GAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGA
GGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGG
CCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAAC
TTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAG
GGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCT
GCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTC
ACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCAC
CTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCA
CCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCC
AGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGG
GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA
GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG
ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG
CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA
GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG
TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC
CGCCTTGGGGCTTTTC
 T
T
 1 a0106
a0106
 1 NA19065.hp2
NA19065.hp2
 disruptive_inframe_deletion MODERATE c.3330_6794del
c.3330_6794del
 p.Lys1111_Leu2265del
p.Lys1111_Leu2265del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6931/18335 3330/17388 1110/5795 chr14 104948656
chr14:104948665 CTTGGGGC
others(488): Show 
CTTGGGGCCCTTGATGTCTATTTCGGGGCCCTTGAGGTCCACTTTGGGCA
CCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGACT
TCCTCGGGCACAGGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTG
GACCTTCACGTCGGCGGAAAGGGGCTGAATGCTGAGGTCAGTGGTCTTGA
GGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCACCTTGGGTGGA
GACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAA
CGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCA
GGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCACTATCCAGC
TTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAGAGACACCTC
GACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGTCCAGT
 C
C
 1 a0181
a0181
 1 HG00673.hp1
HG00673.hp1
 disruptive_inframe_deletion MODERATE c.6291_6785del
c.6291_6785del
 p.Leu2098_Lys2262del
p.Leu2098_Lys2262del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6922/18335 6291/17388 2097/5795 chr14 104948665
chr14:104948670 G
G
 C
C
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6781C>G
c.6781C>G
 p.Pro2261Ala
p.Pro2261Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6918/18335 6781/17388 2261/5795 chr14 104948670
chr14:104948679 T
T
 C
C
 3 a0064
a0071
a0133
a0064
a0071
a0133
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.6772A>G
c.6772A>G
 p.Ile2258Val
p.Ile2258Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6909/18335 6772/17388 2258/5795 chr14 104948679
chr14:104948683 T
T
 C
C
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6768A>G
c.6768A>G
 p.Ile2256Met
p.Ile2256Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6905/18335 6768/17388 2256/5795 chr14 104948683
chr14:104948684 A
A
 G
G
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6767T>C
c.6767T>C
 p.Ile2256Thr
p.Ile2256Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6904/18335 6767/17388 2256/5795 chr14 104948684
chr14:104948685 TTTCGGGG
others(488): Show 
TTTCGGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGC
AGCTTGGGCAGGTGCCCTTTGAGGCCGACTTCCTCGGGCACAGGGCCCTC
CAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCACGTCGGCGGAAA
GGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGG
AGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCTC
GATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGG
GCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGTC
AGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGAC
GTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATTT
CCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCAC
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 conservative_inframe_deletion MODERATE c.6271_6765del
c.6271_6765del
 p.Val2091_Glu2255del
p.Val2091_Glu2255del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6902/18335 6271/17388 2091/5795 chr14 104948685
chr14:104948688 C
C
 G
G
 2 a0064
a0071
a0064
a0071
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 missense_variant MODERATE c.6763G>C
c.6763G>C
 p.Glu2255Gln
p.Glu2255Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6900/18335 6763/17388 2255/5795 chr14 104948688
chr14:104948715 C
C
 T
T
 2 a0064
a0071
a0064
a0071
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 missense_variant MODERATE c.6736G>A
c.6736G>A
 p.Val2246Met
p.Val2246Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6873/18335 6736/17388 2246/5795 chr14 104948715
chr14:104948731 C
C
 A
A
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6720G>T
c.6720G>T
 p.Gln2240His
p.Gln2240His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6857/18335 6720/17388 2240/5795 chr14 104948731
chr14:104948733 G
G
 C
C
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6718C>G
c.6718C>G
 p.Gln2240Glu
p.Gln2240Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6855/18335 6718/17388 2240/5795 chr14 104948733
chr14:104948736 G
G
 C
C
 2 a0071
a0095
a0071
a0095
 2 HG02257.hp1
NA19005.hp1
HG02257.hp1
NA19005.hp1
 missense_variant MODERATE c.6715C>G
c.6715C>G
 p.Leu2239Val
p.Leu2239Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6852/18335 6715/17388 2239/5795 chr14 104948736
chr14:104948762 A
A
 G
G
 4 a0018
a0064
a0071
others(1): Show 
a0018
a0064
a0071
a0095
 6 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(3): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19005.hp1
NA19081.hp2
 missense_variant MODERATE c.6689T>C
c.6689T>C
 p.Val2230Ala
p.Val2230Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6826/18335 6689/17388 2230/5795 chr14 104948762
chr14:104948765 T
T
 C
C
 3 a0018
a0064
a0071
a0018
a0064
a0071
 5 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6686A>G
c.6686A>G
 p.Glu2229Gly
p.Glu2229Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6823/18335 6686/17388 2229/5795 chr14 104948765
chr14:104948771 G
G
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.6680C>T
c.6680C>T
 p.Pro2227Leu
p.Pro2227Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6817/18335 6680/17388 2227/5795 chr14 104948771
chr14:104948777 G
G
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6674C>A
c.6674C>A
 p.Pro2225His
p.Pro2225His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6811/18335 6674/17388 2225/5795 chr14 104948777
chr14:104948786 A
A
 G
G
 2 a0064
a0071
a0064
a0071
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 missense_variant MODERATE c.6665T>C
c.6665T>C
 p.Leu2222Pro
p.Leu2222Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6802/18335 6665/17388 2222/5795 chr14 104948786
chr14:104948796 C
C
 T
T
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6655G>A
c.6655G>A
 p.Val2219Met
p.Val2219Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6792/18335 6655/17388 2219/5795 chr14 104948796
chr14:104948802 C
C
 A
A
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6649G>T
c.6649G>T
 p.Val2217Leu
p.Val2217Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6786/18335 6649/17388 2217/5795 chr14 104948802
chr14:104948817 C
C
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6634G>C
c.6634G>C
 p.Val2212Leu
p.Val2212Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6771/18335 6634/17388 2212/5795 chr14 104948817
chr14:104948819 T
T
 A
A
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6632A>T
c.6632A>T
 p.Lys2211Met
p.Lys2211Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6769/18335 6632/17388 2211/5795 chr14 104948819
chr14:104948820 T
T
 C
C
 3 a0018
a0064
a0071
a0018
a0064
a0071
 5 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6631A>G
c.6631A>G
 p.Lys2211Glu
p.Lys2211Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6768/18335 6631/17388 2211/5795 chr14 104948820
chr14:104948823 C
C
 G
G
 3 a0018
a0064
a0071
a0018
a0064
a0071
 5 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6628G>C
c.6628G>C
 p.Val2210Leu
p.Val2210Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6765/18335 6628/17388 2210/5795 chr14 104948823
chr14:104948823 C
C
 T
T
 1 a0165
a0165
 1 HG01928.hp1
HG01928.hp1
 missense_variant MODERATE c.6628G>A
c.6628G>A
 p.Val2210Met
p.Val2210Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6765/18335 6628/17388 2210/5795 chr14 104948823
chr14:104948829 C
C
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6622G>A
c.6622G>A
 p.Ala2208Thr
p.Ala2208Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6759/18335 6622/17388 2208/5795 chr14 104948829
chr14:104948834 A
A
 G
G
 3 a0018
a0064
a0071
a0018
a0064
a0071
 5 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6617T>C
c.6617T>C
 p.Leu2206Pro
p.Leu2206Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6754/18335 6617/17388 2206/5795 chr14 104948834
chr14:104948834 AGGGGCTG
others(488): Show 
AGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGG
GAGACTCATGTCGGCCTCCACCTTGGGTGGAGACACATCCACCGAGGCCT
CGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTG
GGCATTTTGAACTTGCTGTCTTTGGTAGTCAGGTCCTTGTTGGCCAGGGT
CAGGTCCCCCTGCAGATGCGCACTATCCAGCTTGGCTCTTGGGGCCTGGA
CGTCCACCTCCATGCTGGGCAGAGACACCTCGACATCGGGGACTCTCATT
TCCACCTTGGGGTCTTTTAGGTCCAGTTTGGGGCCCTTGATGTCCACCTG
GGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTGGGCATCTCCACCT
TGGGCAGGTGCCCTTTGAGGCCAGCTCCCTCGGGCACGTGGCCCTCCGGG
AGCTTCACATCCACCTGGCCAGTCTGGACCTTCAGGTCGGCAGAAG
 A
A
 27 a0001
a0011
a0021
others(24): Show 
a0001
a0011
a0021
a0022
a0025
a0029
a0030
a0031
a0052
a0065
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0121
a0122
a0123
 60 HG00099.hp1
HG00323.hp1
HG00642.hp1
others(57): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 disruptive_inframe_deletion MODERATE c.6122_6616del
c.6122_6616del
 p.Pro2041_Pro2205del
p.Pro2041_Pro2205del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6753/18335 6122/17388 2041/5795 chr14 104948834
chr14:104948837 G
G
 A
A
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6614C>T
c.6614C>T
 p.Pro2205Leu
p.Pro2205Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6751/18335 6614/17388 2205/5795 chr14 104948837
chr14:104948840 T
T
 G
G
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6611A>C
c.6611A>C
 p.Gln2204Pro
p.Gln2204Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6748/18335 6611/17388 2204/5795 chr14 104948840
chr14:104948844 T
T
 C
C
 2 a0064
a0150
a0064
a0150
 2 HG02965.hp2
HG03130.hp1
HG02965.hp2
HG03130.hp1
 missense_variant MODERATE c.6607A>G
c.6607A>G
 p.Ile2203Val
p.Ile2203Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6744/18335 6607/17388 2203/5795 chr14 104948844
chr14:104948847 T
T
 A
A
 1 a0071
a0071
 1 HG02257.hp1
HG02257.hp1
 missense_variant MODERATE c.6604A>T
c.6604A>T
 p.Ser2202Cys
p.Ser2202Cys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6741/18335 6604/17388 2202/5795 chr14 104948847
chr14:104948854 AGTGGTCT
others(983): Show 
AGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCATGTCGGCCTCCA
CCTTGGGTGGAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCA
GACACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTC
TTTGGTAGTCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCG
CACTATCCAGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGC
AGAGACACCTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAG
GTCCAGTTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTT
TGGGCATCTTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGG
CCAGCTCCCTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCC
AGTCTGGACCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGG
TCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTG
GGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATAC
CCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGG
CAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCA
TCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGA
CACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCA
GCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGC
ATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGC
TCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCT
GGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 disruptive_inframe_deletion MODERATE c.5607_6596del
c.5607_6596del
 p.Asp1870_Thr2199del
p.Asp1870_Thr2199del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6733/18335 5607/17388 1869/5795 chr14 104948854
chr14:104948892 T
T
 C
C
 9 a0045
a0055
a0064
others(6): Show 
a0045
a0055
a0064
a0071
a0086
a0161
a0178
a0198
a0205
 10 HG00733.hp1
HG01175.hp1
HG02109.hp1
others(7): Show 
HG00733.hp1
HG01175.hp1
HG02109.hp1
HG02257.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
HG03942.hp1
NA18906.hp1
NA18954.hp2
 missense_variant MODERATE c.6559A>G
c.6559A>G
 p.Met2187Val
p.Met2187Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6696/18335 6559/17388 2187/5795 chr14 104948892
chr14:104948903 A
A
 G
G
 3 a0077
a0078
a0079
a0077
a0078
a0079
 3 HG02451.hp1
HG03098.hp1
HG03471.hp1
HG02451.hp1
HG03098.hp1
HG03471.hp1
 missense_variant MODERATE c.6548T>C
c.6548T>C
 p.Val2183Ala
p.Val2183Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6685/18335 6548/17388 2183/5795 chr14 104948903
chr14:104948909 G
G
 A
A
 8 a0044
a0051
a0064
others(5): Show 
a0044
a0051
a0064
a0077
a0078
a0079
a0144
a0169
 10 HG01167.hp1
HG01169.hp1
HG02451.hp1
others(7): Show 
HG01167.hp1
HG01169.hp1
HG02451.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
 missense_variant MODERATE c.6542C>T
c.6542C>T
 p.Pro2181Leu
p.Pro2181Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6679/18335 6542/17388 2181/5795 chr14 104948909
chr14:104948910 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6541C>T
c.6541C>T
 p.Pro2181Ser
p.Pro2181Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6678/18335 6541/17388 2181/5795 chr14 104948910
chr14:104948912 G
G
 T
T
 11 a0044
a0051
a0074
others(8): Show 
a0044
a0051
a0074
a0075
a0076
a0077
a0078
a0079
a0144
a0169
a0197
 13 HG01167.hp1
HG01169.hp1
HG01884.hp2
others(10): Show 
HG01167.hp1
HG01169.hp1
HG01884.hp2
HG02451.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
NA20129.hp2
 missense_variant MODERATE c.6539C>A
c.6539C>A
 p.Pro2180Gln
p.Pro2180Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6676/18335 6539/17388 2180/5795 chr14 104948912
chr14:104948913 G
G
 C
C
 16 a0018
a0044
a0051
others(13): Show 
a0018
a0044
a0051
a0064
a0071
a0074
a0075
a0076
a0077
a0078
a0079
a0086
a0144
a0153
a0169
a0197
 20 HG01167.hp1
HG01169.hp1
HG01884.hp2
others(17): Show 
HG01167.hp1
HG01169.hp1
HG01884.hp2
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03942.hp1
NA18948.hp2
NA18953.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp2
 missense_variant MODERATE c.6538C>G
c.6538C>G
 p.Pro2180Ala
p.Pro2180Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6675/18335 6538/17388 2180/5795 chr14 104948913
chr14:104948919 C
C
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6532G>C
c.6532G>C
 p.Val2178Leu
p.Val2178Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6669/18335 6532/17388 2178/5795 chr14 104948919
chr14:104948922 C
C
 G
G
 1 a0153
a0153
 1 NA18953.hp2
NA18953.hp2
 missense_variant MODERATE c.6529G>C
c.6529G>C
 p.Asp2177His
p.Asp2177His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6666/18335 6529/17388 2177/5795 chr14 104948922
chr14:104948924 A
A
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6527T>C
c.6527T>C
 p.Val2176Ala
p.Val2176Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6664/18335 6527/17388 2176/5795 chr14 104948924
chr14:104948925 C
C
 G
G
 1 a0067
a0067
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.6526G>C
c.6526G>C
 p.Val2176Leu
p.Val2176Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6663/18335 6526/17388 2176/5795 chr14 104948925
chr14:104948931 C
C
 T
T
 1 a0151
a0151
 1 NA18950.hp2
NA18950.hp2
 missense_variant MODERATE c.6520G>A
c.6520G>A
 p.Ala2174Thr
p.Ala2174Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6657/18335 6520/17388 2174/5795 chr14 104948931
chr14:104948934 C
C
 T
T
 1 a0062
a0062
 1 HG03453.hp1
HG03453.hp1
 missense_variant MODERATE c.6517G>A
c.6517G>A
 p.Glu2173Lys
p.Glu2173Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6654/18335 6517/17388 2173/5795 chr14 104948934
chr14:104948942 T
T
 C
C
 2 a0082
a0083
a0082
a0083
 2 HG02055.hp2
NA18522.hp2
HG02055.hp2
NA18522.hp2
 missense_variant MODERATE c.6509A>G
c.6509A>G
 p.Lys2170Arg
p.Lys2170Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6646/18335 6509/17388 2170/5795 chr14 104948942
chr14:104948954 G
G
 A
A
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6497C>T
c.6497C>T
 p.Ser2166Phe
p.Ser2166Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6634/18335 6497/17388 2166/5795 chr14 104948954
chr14:104948957 A
A
 G
G
 1 a0150
a0150
 1 HG02965.hp2
HG02965.hp2
 missense_variant MODERATE c.6494T>C
c.6494T>C
 p.Val2165Ala
p.Val2165Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6631/18335 6494/17388 2165/5795 chr14 104948957
chr14:104948962 AAACGACG
others(2468): Show 
AAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAG
TCAGGTCCTTGTTGGCCAGGGTCAGGTCCCCCTGCAGATGCGCACTATCC
AGCTTGGCTCTTGGGGCCTGGACGTCCACCTCCATGCTGGGCAGAGACAC
CTCGACATCGGGGACTCTCATTTCCACCTTGGGGTCTTTTAGGTCCAGTT
TGGGGCCCTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC
TTCAAACTGGGCATCTCCACCTTGGGCAGGTGCCCTTTGAGGCCAGCTCC
CTCGGGCACGTGGCCCTCCGGGAGCTTCACATCCACCTGGCCAGTCTGGA
CCTTCAGGTCGGCAGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTCAGG
TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACCTTGGGTGCAGG
CACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCCCGAACG
ACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCATG
TCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATCCAGCTT
AGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGA
CATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGCG
CCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAA
ACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTCCCTCGG
GCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGGACCACC
AGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAGGTCCCC
CTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCGCAGACACAT
CCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGC
ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTT
GTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCTTGGCTC
CTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACGTCG
GGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTT
GACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGG
GCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGG
GGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTC
GGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCA
TGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATCCACC
GAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTT
GAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGG
CCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGG
GCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGC
TGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACAT
CTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATC
TGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCC
CTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAG
AAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAG
GGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGC
CTCGATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACT
TGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGG
GACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTC
GACATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCA
CTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATT
TCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAG
CTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTG
GGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGG
GGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAG
GCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAA
TGGACTTGCCTGGGGCAGACACCCCG
 A
A
 5 a0007
a0165
a0166
others(2): Show 
a0007
a0165
a0166
a0167
a0168
 12 HG00639.hp2
HG00738.hp2
HG01109.hp1
others(9): Show 
HG00639.hp2
HG00738.hp2
HG01109.hp1
HG01192.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01978.hp2
HG02083.hp2
HG02148.hp1
HG02257.hp2
HG02293.hp1
 disruptive_inframe_deletion MODERATE c.4014_6488del
c.4014_6488del
 p.Gly1339_Phe2163del
p.Gly1339_Phe2163del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6625/18335 4014/17388 1338/5795 chr14 104948962
chr14:104948969 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6482C>T
c.6482C>T
 p.Pro2161Leu
p.Pro2161Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6619/18335 6482/17388 2161/5795 chr14 104948969
chr14:104948996 T
T
 C
C
 5 a0061
a0062
a0098
others(2): Show 
a0061
a0062
a0098
a0161
a0203
 5 HG01884.hp1
HG02451.hp2
HG02809.hp2
others(2): Show 
HG01884.hp1
HG02451.hp2
HG02809.hp2
HG03453.hp1
HG03516.hp2
 missense_variant MODERATE c.6455A>G
c.6455A>G
 p.Lys2152Arg
p.Lys2152Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6592/18335 6455/17388 2152/5795 chr14 104948996
chr14:104949001 G
G
 T
T
 5 a0074
a0075
a0076
others(2): Show 
a0074
a0075
a0076
a0078
a0197
 5 HG01884.hp2
HG02451.hp1
HG02717.hp2
others(2): Show 
HG01884.hp2
HG02451.hp1
HG02717.hp2
HG02922.hp2
NA20129.hp2
 missense_variant MODERATE c.6450C>A
c.6450C>A
 p.Asp2150Glu
p.Asp2150Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6587/18335 6450/17388 2150/5795 chr14 104949001
chr14:104949009 T
T
 C
C
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6442A>G
c.6442A>G
 p.Thr2148Ala
p.Thr2148Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6579/18335 6442/17388 2148/5795 chr14 104949009
chr14:104949015 G
G
 C
C
 120 a0003
a0004
a0005
others(117): Show 
a0003
a0004
a0005
a0012
a0013
a0014
a0016
a0018
a0023
a0024
a0026
a0032
a0034
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0048
a0049
a0050
a0051
a0054
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0067
a0068
a0071
a0072
a0073
a0074
a0075
a0076
a0078
a0085
a0086
a0092
a0098
a0099
a0100
a0101
a0102
a0103
a0124
a0125
a0126
a0127
a0128
a0129
a0130
a0131
a0132
a0134
a0135
a0136
a0137
a0138
a0139
a0140
a0141
a0142
a0144
a0145
a0146
a0147
a0148
a0150
a0151
a0152
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0160
a0161
a0162
a0163
a0164
a0169
a0171
a0172
a0175
a0176
a0177
a0178
a0188
a0189
a0190
a0191
a0192
a0193
a0194
a0195
a0196
a0197
a0198
a0199
a0201
a0203
a0205
a0206
a0208
a0209
a0210
 180 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(177): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00673.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01257.hp2
HG01258.hp1
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02055.hp1
HG02056.hp2
HG02074.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03669.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG03942.hp1
HG04184.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp2
NA18953.hp2
NA18954.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18961.hp1
NA18963.hp1
NA18967.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19058.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19077.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp2
NA20300.hp2
NA20752.hp2
NA20805.hp1
 missense_variant MODERATE c.6436C>G
c.6436C>G
 p.Leu2146Val
p.Leu2146Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6573/18335 6436/17388 2146/5795 chr14 104949015
chr14:104949024 T
T
 C
C
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6427A>G
c.6427A>G
 p.Asn2143Asp
p.Asn2143Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6564/18335 6427/17388 2143/5795 chr14 104949024
chr14:104949033 T
T
 A
A
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6418A>T
c.6418A>T
 p.Thr2140Ser
p.Thr2140Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6555/18335 6418/17388 2140/5795 chr14 104949033
chr14:104949036 G
G
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6415C>A
c.6415C>A
 p.Leu2139Met
p.Leu2139Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6552/18335 6415/17388 2139/5795 chr14 104949036
chr14:104949043 C
C
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6408G>C
c.6408G>C
 p.Gln2136His
p.Gln2136His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6545/18335 6408/17388 2136/5795 chr14 104949043
chr14:104949045 G
G
 C
C
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6406C>G
c.6406C>G
 p.Gln2136Glu
p.Gln2136Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6543/18335 6406/17388 2136/5795 chr14 104949045
chr14:104949049 A
A
 C
C
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6402T>G
c.6402T>G
 p.His2134Gln
p.His2134Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6539/18335 6402/17388 2134/5795 chr14 104949049
chr14:104949050 T
T
 C
C
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.6401A>G
c.6401A>G
 p.His2134Arg
p.His2134Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6538/18335 6401/17388 2134/5795 chr14 104949050
chr14:104949053 G
G
 A
A
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6398C>T
c.6398C>T
 p.Ala2133Val
p.Ala2133Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6535/18335 6398/17388 2133/5795 chr14 104949053
chr14:104949057 T
T
 C
C
 2 a0018
a0064
a0018
a0064
 4 HG03130.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6394A>G
c.6394A>G
 p.Ser2132Gly
p.Ser2132Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6531/18335 6394/17388 2132/5795 chr14 104949057
chr14:104949072 T
T
 C
C
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6379A>G
c.6379A>G
 p.Arg2127Gly
p.Arg2127Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6516/18335 6379/17388 2127/5795 chr14 104949072
chr14:104949081 G
G
 C
C
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6370C>G
c.6370C>G
 p.Gln2124Glu
p.Gln2124Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6507/18335 6370/17388 2124/5795 chr14 104949081
chr14:104949081 G
G
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6370C>A
c.6370C>A
 p.Gln2124Lys
p.Gln2124Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6507/18335 6370/17388 2124/5795 chr14 104949081
chr14:104949084 C
C
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6367G>A
c.6367G>A
 p.Val2123Ile
p.Val2123Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6504/18335 6367/17388 2123/5795 chr14 104949084
chr14:104949096 T
T
 C
C
 4 a0018
a0064
a0086
others(1): Show 
a0018
a0064
a0086
a0203
 6 HG02451.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02451.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6355A>G
c.6355A>G
 p.Met2119Val
p.Met2119Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6492/18335 6355/17388 2119/5795 chr14 104949096
chr14:104949111 C
C
 G
G
 1 a0182
a0182
 1 HG01993.hp1
HG01993.hp1
 missense_variant MODERATE c.6340G>C
c.6340G>C
 p.Val2114Leu
p.Val2114Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6477/18335 6340/17388 2114/5795 chr14 104949111
chr14:104949112 C
C
 A
A
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6339G>T
c.6339G>T
 p.Glu2113Asp
p.Glu2113Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6476/18335 6339/17388 2113/5795 chr14 104949112
chr14:104949113 T
T
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6338A>C
c.6338A>C
 p.Glu2113Ala
p.Glu2113Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6475/18335 6338/17388 2113/5795 chr14 104949113
chr14:104949118 A
A
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6333T>A
c.6333T>A
 p.Asp2111Glu
p.Asp2111Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6470/18335 6333/17388 2111/5795 chr14 104949118
chr14:104949122 G
G
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6329C>A
c.6329C>A
 p.Pro2110His
p.Pro2110His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6466/18335 6329/17388 2110/5795 chr14 104949122
chr14:104949125 A
A
 G
G
 3 a0018
a0064
a0086
a0018
a0064
a0086
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6326T>C
c.6326T>C
 p.Val2109Ala
p.Val2109Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6463/18335 6326/17388 2109/5795 chr14 104949125
chr14:104949128 C
C
 A
A
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6323G>T
c.6323G>T
 p.Arg2108Ile
p.Arg2108Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6460/18335 6323/17388 2108/5795 chr14 104949128
chr14:104949128 C
C
 G
G
 2 a0018
a0064
a0018
a0064
 4 HG03130.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6323G>C
c.6323G>C
 p.Arg2108Thr
p.Arg2108Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6460/18335 6323/17388 2108/5795 chr14 104949128
chr14:104949132 T
T
 C
C
 80 a0004
a0006
a0009
others(77): Show 
a0004
a0006
a0009
a0010
a0015
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0032
a0034
a0035
a0036
a0046
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0064
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0114
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0149
a0170
a0179
a0180
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 121 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(118): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02922.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
 missense_variant MODERATE c.6319A>G
c.6319A>G
 p.Met2107Val
p.Met2107Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6456/18335 6319/17388 2107/5795 chr14 104949132
chr14:104949137 A
A
 G
G
 2 a0018
a0086
a0018
a0086
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6314T>C
c.6314T>C
 p.Val2105Ala
p.Val2105Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6451/18335 6314/17388 2105/5795 chr14 104949137
chr14:104949143 G
G
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6308C>A
c.6308C>A
 p.Pro2103His
p.Pro2103His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6445/18335 6308/17388 2103/5795 chr14 104949143
chr14:104949146 T
T
 C
C
 2 a0018
a0086
a0018
a0086
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6305A>G
c.6305A>G
 p.Asp2102Gly
p.Asp2102Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6442/18335 6305/17388 2102/5795 chr14 104949146
chr14:104949156 C
C
 A
A
 1 a0148
a0148
 1 HG02559.hp1
HG02559.hp1
 missense_variant MODERATE c.6295G>T
c.6295G>T
 p.Asp2099Tyr
p.Asp2099Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6432/18335 6295/17388 2099/5795 chr14 104949156
chr14:104949170 T
T
 C
C
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6281A>G
c.6281A>G
 p.Lys2094Arg
p.Lys2094Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6418/18335 6281/17388 2094/5795 chr14 104949170
chr14:104949174 T
T
 C
C
 3 a0018
a0063
a0086
a0018
a0063
a0086
 5 HG03942.hp1
HG06807.hp1
NA18948.hp2
others(2): Show 
HG03942.hp1
HG06807.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6277A>G
c.6277A>G
 p.Ile2093Val
p.Ile2093Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6414/18335 6277/17388 2093/5795 chr14 104949174
chr14:104949175 G
G
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6276C>A
c.6276C>A
 p.Asp2092Glu
p.Asp2092Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6413/18335 6276/17388 2092/5795 chr14 104949175
chr14:104949180 C
C
 T
T
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.6271G>A
c.6271G>A
 p.Val2091Met
p.Val2091Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6408/18335 6271/17388 2091/5795 chr14 104949180
chr14:104949183 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6268C>G
c.6268C>G
 p.Gln2090Glu
p.Gln2090Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6405/18335 6268/17388 2090/5795 chr14 104949183
chr14:104949197 T
T
 G
G
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6254A>C
c.6254A>C
 p.Asp2085Ala
p.Asp2085Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6391/18335 6254/17388 2085/5795 chr14 104949197
chr14:104949204 T
T
 C
C
 17 a0026
a0036
a0055
others(14): Show 
a0026
a0036
a0055
a0061
a0062
a0067
a0068
a0071
a0072
a0073
a0085
a0098
a0100
a0101
a0130
a0196
a0205
 19 HG00639.hp1
HG00733.hp1
HG01099.hp2
others(16): Show 
HG00639.hp1
HG00733.hp1
HG01099.hp2
HG01255.hp2
HG01884.hp1
HG02109.hp1
HG02257.hp1
HG02258.hp1
HG02486.hp2
HG02630.hp1
HG02717.hp1
HG02809.hp2
HG02922.hp1
HG02976.hp2
HG03041.hp2
HG03209.hp2
HG03453.hp1
NA19030.hp1
NA19030.hp2
 missense_variant MODERATE c.6247A>G
c.6247A>G
 p.Lys2083Glu
p.Lys2083Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6384/18335 6247/17388 2083/5795 chr14 104949204
chr14:104949210 T
T
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6241A>G
c.6241A>G
 p.Met2081Val
p.Met2081Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6378/18335 6241/17388 2081/5795 chr14 104949210
chr14:104949214 C
C
 G
G
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.6237G>C
c.6237G>C
 p.Leu2079Phe
p.Leu2079Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6374/18335 6237/17388 2079/5795 chr14 104949214
chr14:104949228 C
C
 G
G
 4 a0018
a0064
a0086
others(1): Show 
a0018
a0064
a0086
a0133
 6 HG02630.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02630.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6223G>C
c.6223G>C
 p.Glu2075Gln
p.Glu2075Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6360/18335 6223/17388 2075/5795 chr14 104949228
chr14:104949231 C
C
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6220G>C
c.6220G>C
 p.Val2074Leu
p.Val2074Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6357/18335 6220/17388 2074/5795 chr14 104949231
chr14:104949252 G
G
 A
A
 2 a0018
a0086
a0018
a0086
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6199C>T
c.6199C>T
 p.Leu2067Phe
p.Leu2067Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6336/18335 6199/17388 2067/5795 chr14 104949252
chr14:104949257 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6194C>T
c.6194C>T
 p.Ala2065Val
p.Ala2065Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6331/18335 6194/17388 2065/5795 chr14 104949257
chr14:104949260 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6191G>A
c.6191G>A
 p.Gly2064Glu
p.Gly2064Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6328/18335 6191/17388 2064/5795 chr14 104949260
chr14:104949270 C
C
 G
G
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6181G>C
c.6181G>C
 p.Val2061Leu
p.Val2061Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6318/18335 6181/17388 2061/5795 chr14 104949270
chr14:104949270 C
C
 T
T
 2 a0014
a0164
a0014
a0164
 5 NA18959.hp1
NA18961.hp1
NA18967.hp2
others(2): Show 
NA18959.hp1
NA18961.hp1
NA18967.hp2
NA19000.hp2
NA19085.hp2
 missense_variant MODERATE c.6181G>A
c.6181G>A
 p.Val2061Met
p.Val2061Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6318/18335 6181/17388 2061/5795 chr14 104949270
chr14:104949271 G
G
 C
C
 74 a0004
a0006
a0009
others(71): Show 
a0004
a0006
a0009
a0010
a0015
a0016
a0017
a0019
a0020
a0026
a0027
a0032
a0034
a0035
a0046
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0114
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0149
a0170
a0182
a0183
a0195
a0196
a0203
a0205
a0207
a0211
 112 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(109): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20129.hp1
NA20300.hp2
 missense_variant MODERATE c.6180C>G
c.6180C>G
 p.His2060Gln
p.His2060Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6317/18335 6180/17388 2060/5795 chr14 104949271
chr14:104949272 T
T
 G
G
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.6179A>C
c.6179A>C
 p.His2060Pro
p.His2060Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6316/18335 6179/17388 2060/5795 chr14 104949272
chr14:104949281 G
G
 A
A
 2 a0018
a0064
a0018
a0064
 4 HG03130.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6170C>T
c.6170C>T
 p.Pro2057Leu
p.Pro2057Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6307/18335 6170/17388 2057/5795 chr14 104949281
chr14:104949294 C
C
 T
T
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6157G>A
c.6157G>A
 p.Asp2053Asn
p.Asp2053Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6294/18335 6157/17388 2053/5795 chr14 104949294
chr14:104949306 T
T
 C
C
 4 a0018
a0064
a0086
others(1): Show 
a0018
a0064
a0086
a0133
 6 HG02630.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02630.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6145A>G
c.6145A>G
 p.Thr2049Ala
p.Thr2049Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6282/18335 6145/17388 2049/5795 chr14 104949306
chr14:104949307 C
C
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6144G>C
c.6144G>C
 p.Gln2048His
p.Gln2048His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6281/18335 6144/17388 2048/5795 chr14 104949307
chr14:104949315 T
T
 C
C
 3 a0018
a0086
a0133
a0018
a0086
a0133
 5 HG02630.hp2
HG03942.hp1
NA18948.hp2
others(2): Show 
HG02630.hp2
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.6136A>G
c.6136A>G
 p.Lys2046Glu
p.Lys2046Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6273/18335 6136/17388 2046/5795 chr14 104949315
chr14:104949318 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6133C>G
c.6133C>G
 p.Leu2045Val
p.Leu2045Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6270/18335 6133/17388 2045/5795 chr14 104949318
chr14:104949319 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6132C>A
c.6132C>A
 p.Asp2044Glu
p.Asp2044Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6269/18335 6132/17388 2044/5795 chr14 104949319
chr14:104949321 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6130G>C
c.6130G>C
 p.Asp2044His
p.Asp2044His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6267/18335 6130/17388 2044/5795 chr14 104949321
chr14:104949329 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.6122C>T
c.6122C>T
 p.Pro2041Leu
p.Pro2041Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6259/18335 6122/17388 2041/5795 chr14 104949329
chr14:104949330 G
G
 C
C
 1 a0198
a0198
 1 NA18954.hp2
NA18954.hp2
 missense_variant MODERATE c.6121C>G
c.6121C>G
 p.Pro2041Ala
p.Pro2041Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6258/18335 6121/17388 2041/5795 chr14 104949330
chr14:104949333 G
G
 A
A
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.6118C>T
c.6118C>T
 p.Pro2040Ser
p.Pro2040Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6255/18335 6118/17388 2040/5795 chr14 104949333
chr14:104949345 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6106C>A
c.6106C>A
 p.Leu2036Ile
p.Leu2036Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6243/18335 6106/17388 2036/5795 chr14 104949345
chr14:104949349 AGTGGTCT
others(488): Show 
AGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCA
CCTTGGGTGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCC
GATACCCCGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTC
TTTGGCAGTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCG
CACCATCCAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGC
AGAGACACCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAG
GTCCAGCTTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTT
TGGGCATCTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGG
CCGGCTCCCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCC
AGCCTGGACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCC
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 disruptive_inframe_deletion MODERATE c.5607_6101del
c.5607_6101del
 p.Asp1870_Thr2034del
p.Asp1870_Thr2034del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6238/18335 5607/17388 1869/5795 chr14 104949349
chr14:104949378 G
G
 A
A
 1 a0101
a0101
 1 HG00639.hp1
HG00639.hp1
 missense_variant MODERATE c.6073C>T
c.6073C>T
 p.Pro2025Ser
p.Pro2025Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6210/18335 6073/17388 2025/5795 chr14 104949378
chr14:104949381 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6070C>T
c.6070C>T
 p.Leu2024Phe
p.Leu2024Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6207/18335 6070/17388 2024/5795 chr14 104949381
chr14:104949386 A
A
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6065T>G
c.6065T>G
 p.Val2022Gly
p.Val2022Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6202/18335 6065/17388 2022/5795 chr14 104949386
chr14:104949387 C
C
 G
G
 2 a0070
a0113
a0070
a0113
 2 HG01106.hp2
HG03209.hp1
HG01106.hp2
HG03209.hp1
 missense_variant MODERATE c.6064G>C
c.6064G>C
 p.Val2022Leu
p.Val2022Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6201/18335 6064/17388 2022/5795 chr14 104949387
chr14:104949398 A
A
 G
G
 1 a0076
a0076
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.6053T>C
c.6053T>C
 p.Val2018Ala
p.Val2018Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6190/18335 6053/17388 2018/5795 chr14 104949398
chr14:104949404 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.6047C>T
c.6047C>T
 p.Pro2016Leu
p.Pro2016Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6184/18335 6047/17388 2016/5795 chr14 104949404
chr14:104949406 TGCAGGCA
others(488): Show 
TGCAGGCACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC
CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA
GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC
CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA
CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC
TTGGCGCCCTTAACATCTGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT
CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC
CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG
ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG
GTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGC
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 disruptive_inframe_deletion MODERATE c.5550_6044del
c.5550_6044del
 p.Pro1851_Ala2015del
p.Pro1851_Ala2015del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6181/18335 5550/17388 1850/5795 chr14 104949406
chr14:104949407 G
G
 T
T
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.6044C>A
c.6044C>A
 p.Ala2015Glu
p.Ala2015Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6181/18335 6044/17388 2015/5795 chr14 104949407
chr14:104949408 C
C
 G
G
 28 a0001
a0011
a0021
others(25): Show 
a0001
a0011
a0021
a0022
a0025
a0029
a0030
a0031
a0052
a0065
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0121
a0122
a0123
a0129
 61 HG00099.hp1
HG00323.hp1
HG00642.hp1
others(58): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.6043G>C
c.6043G>C
 p.Ala2015Pro
p.Ala2015Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6180/18335 6043/17388 2015/5795 chr14 104949408
chr14:104949411 G
G
 A
A
 35 a0001
a0011
a0021
others(32): Show 
a0001
a0011
a0021
a0022
a0025
a0029
a0030
a0031
a0046
a0052
a0065
a0081
a0086
a0101
a0104
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0121
a0122
a0123
a0129
a0131
a0133
a0197
 69 HG00099.hp1
HG00323.hp1
HG00639.hp1
others(66): Show 
HG00099.hp1
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02630.hp2
HG02698.hp1
HG02738.hp1
HG02922.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.6040C>T
c.6040C>T
 p.Pro2014Ser
p.Pro2014Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6177/18335 6040/17388 2014/5795 chr14 104949411
chr14:104949430 G
G
 C
C
 1 a0184
a0184
 1 NA18951.hp2
NA18951.hp2
 missense_variant MODERATE c.6021C>G
c.6021C>G
 p.Ile2007Met
p.Ile2007Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6158/18335 6021/17388 2007/5795 chr14 104949430
chr14:104949437 C
C
 T
T
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.6014G>A
c.6014G>A
 p.Arg2005Lys
p.Arg2005Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6151/18335 6014/17388 2005/5795 chr14 104949437
chr14:104949464 G
G
 A
A
 1 a0112
a0112
 1 HG03540.hp2
HG03540.hp2
 missense_variant MODERATE c.5987C>T
c.5987C>T
 p.Pro1996Leu
p.Pro1996Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6124/18335 5987/17388 1996/5795 chr14 104949464
chr14:104949510 T
T
 C
C
 6 a0036
a0069
a0080
others(3): Show 
a0036
a0069
a0080
a0081
a0086
a0191
 7 HG01167.hp2
HG02280.hp1
HG02922.hp1
others(4): Show 
HG01167.hp2
HG02280.hp1
HG02922.hp1
HG03195.hp2
HG03209.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5941A>G
c.5941A>G
 p.Met1981Val
p.Met1981Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6078/18335 5941/17388 1981/5795 chr14 104949510
chr14:104949511 G
G
 C
C
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5940C>G
c.5940C>G
 p.Asp1980Glu
p.Asp1980Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6077/18335 5940/17388 1980/5795 chr14 104949511
chr14:104949512 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5939A>G
c.5939A>G
 p.Asp1980Gly
p.Asp1980Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6076/18335 5939/17388 1980/5795 chr14 104949512
chr14:104949512 T
T
 G
G
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5939A>C
c.5939A>C
 p.Asp1980Ala
p.Asp1980Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6076/18335 5939/17388 1980/5795 chr14 104949512
chr14:104949545 C
C
 T
T
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5906G>A
c.5906G>A
 p.Arg1969Gln
p.Arg1969Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6043/18335 5906/17388 1969/5795 chr14 104949545
chr14:104949548 G
G
 A
A
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0086
 4 HG01167.hp2
HG03195.hp2
HG03942.hp1
others(1): Show 
HG01167.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5903C>T
c.5903C>T
 p.Ala1968Val
p.Ala1968Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6040/18335 5903/17388 1968/5795 chr14 104949548
chr14:104949552 C
C
 T
T
 4 a0053
a0069
a0080
others(1): Show 
a0053
a0069
a0080
a0081
 4 HG01167.hp2
HG02602.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02602.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5899G>A
c.5899G>A
 p.Gly1967Ser
p.Gly1967Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6036/18335 5899/17388 1967/5795 chr14 104949552
chr14:104949564 C
C
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5887G>C
c.5887G>C
 p.Ala1963Pro
p.Ala1963Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6024/18335 5887/17388 1963/5795 chr14 104949564
chr14:104949566 T
T
 C
C
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.5885A>G
c.5885A>G
 p.Lys1962Arg
p.Lys1962Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6022/18335 5885/17388 1962/5795 chr14 104949566
chr14:104949567 T
T
 C
C
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5884A>G
c.5884A>G
 p.Lys1962Glu
p.Lys1962Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6021/18335 5884/17388 1962/5795 chr14 104949567
chr14:104949569 T
T
 G
G
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.5882A>C
c.5882A>C
 p.Gln1961Pro
p.Gln1961Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6019/18335 5882/17388 1961/5795 chr14 104949569
chr14:104949576 G
G
 C
C
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5875C>G
c.5875C>G
 p.Gln1959Glu
p.Gln1959Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6012/18335 5875/17388 1959/5795 chr14 104949576
chr14:104949591 T
T
 C
C
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5860A>G
c.5860A>G
 p.Met1954Val
p.Met1954Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5997/18335 5860/17388 1954/5795 chr14 104949591
chr14:104949596 G
G
 A
A
 3 a0019
a0066
a0095
a0019
a0066
a0095
 5 HG00609.hp1
NA18945.hp2
NA18998.hp2
others(2): Show 
HG00609.hp1
NA18945.hp2
NA18998.hp2
NA19005.hp1
NA19058.hp2
 missense_variant MODERATE c.5855C>T
c.5855C>T
 p.Pro1952Leu
p.Pro1952Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5992/18335 5855/17388 1952/5795 chr14 104949596
chr14:104949597 G
G
 A
A
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.5854C>T
c.5854C>T
 p.Pro1952Ser
p.Pro1952Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5991/18335 5854/17388 1952/5795 chr14 104949597
chr14:104949606 C
C
 T
T
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.5845G>A
c.5845G>A
 p.Val1949Met
p.Val1949Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5982/18335 5845/17388 1949/5795 chr14 104949606
chr14:104949609 C
C
 T
T
 2 a0086
a0133
a0086
a0133
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 missense_variant MODERATE c.5842G>A
c.5842G>A
 p.Glu1948Lys
p.Glu1948Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5979/18335 5842/17388 1948/5795 chr14 104949609
chr14:104949611 A
A
 C
C
 3 a0077
a0078
a0079
a0077
a0078
a0079
 3 HG02451.hp1
HG03098.hp1
HG03471.hp1
HG02451.hp1
HG03098.hp1
HG03471.hp1
 missense_variant MODERATE c.5840T>G
c.5840T>G
 p.Val1947Gly
p.Val1947Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5977/18335 5840/17388 1947/5795 chr14 104949611
chr14:104949623 G
G
 A
A
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5828C>T
c.5828C>T
 p.Thr1943Ile
p.Thr1943Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5965/18335 5828/17388 1943/5795 chr14 104949623
chr14:104949627 C
C
 T
T
 2 a0102
a0103
a0102
a0103
 2 HG02976.hp1
NA20300.hp2
HG02976.hp1
NA20300.hp2
 missense_variant MODERATE c.5824G>A
c.5824G>A
 p.Val1942Met
p.Val1942Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5961/18335 5824/17388 1942/5795 chr14 104949627
chr14:104949632 G
G
 A
A
 4 a0038
a0154
a0158
others(1): Show 
a0038
a0154
a0158
a0199
 5 NA18945.hp1
NA18956.hp1
NA18963.hp1
others(2): Show 
NA18945.hp1
NA18956.hp1
NA18963.hp1
NA19076.hp2
NA19091.hp1
 missense_variant MODERATE c.5819C>T
c.5819C>T
 p.Ala1940Val
p.Ala1940Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5956/18335 5819/17388 1940/5795 chr14 104949632
chr14:104949654 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5797C>G
c.5797C>G
 p.Leu1933Val
p.Leu1933Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5934/18335 5797/17388 1933/5795 chr14 104949654
chr14:104949655 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5796G>C
c.5796G>C
 p.Lys1932Asn
p.Lys1932Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5933/18335 5796/17388 1932/5795 chr14 104949655
chr14:104949660 C
C
 G
G
 5 a0069
a0080
a0081
others(2): Show 
a0069
a0080
a0081
a0086
a0133
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5791G>C
c.5791G>C
 p.Ala1931Pro
p.Ala1931Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5928/18335 5791/17388 1931/5795 chr14 104949660
chr14:104949674 G
G
 A
A
 5 a0069
a0080
a0081
others(2): Show 
a0069
a0080
a0081
a0086
a0133
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5777C>T
c.5777C>T
 p.Thr1926Ile
p.Thr1926Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5914/18335 5777/17388 1926/5795 chr14 104949674
chr14:104949692 T
T
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5759A>C
c.5759A>C
 p.Asp1920Ala
p.Asp1920Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5896/18335 5759/17388 1920/5795 chr14 104949692
chr14:104949699 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5752A>G
c.5752A>G
 p.Lys1918Glu
p.Lys1918Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5889/18335 5752/17388 1918/5795 chr14 104949699
chr14:104949709 G
G
 C
C
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5742C>G
c.5742C>G
 p.Phe1914Leu
p.Phe1914Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5879/18335 5742/17388 1914/5795 chr14 104949709
chr14:104949721 A
A
 C
C
 5 a0069
a0080
a0081
others(2): Show 
a0069
a0080
a0081
a0086
a0133
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5730T>G
c.5730T>G
 p.Asp1910Glu
p.Asp1910Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5867/18335 5730/17388 1910/5795 chr14 104949721
chr14:104949723 C
C
 G
G
 5 a0069
a0080
a0081
others(2): Show 
a0069
a0080
a0081
a0086
a0133
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5728G>C
c.5728G>C
 p.Asp1910His
p.Asp1910His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5865/18335 5728/17388 1910/5795 chr14 104949723
chr14:104949726 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5725G>C
c.5725G>C
 p.Val1909Leu
p.Val1909Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5862/18335 5725/17388 1909/5795 chr14 104949726
chr14:104949733 C
C
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5718G>C
c.5718G>C
 p.Leu1906Phe
p.Leu1906Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5855/18335 5718/17388 1906/5795 chr14 104949733
chr14:104949747 G
G
 A
A
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5704C>T
c.5704C>T
 p.Leu1902Phe
p.Leu1902Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5841/18335 5704/17388 1902/5795 chr14 104949747
chr14:104949750 C
C
 T
T
 34 a0006
a0009
a0010
others(31): Show 
a0006
a0009
a0010
a0017
a0019
a0020
a0027
a0035
a0053
a0057
a0061
a0062
a0066
a0077
a0078
a0079
a0082
a0083
a0084
a0087
a0088
a0089
a0090
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0114
a0149
a0207
a0211
 55 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(52): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG01175.hp2
HG01884.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03098.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
 missense_variant MODERATE c.5701G>A
c.5701G>A
 p.Gly1901Ser
p.Gly1901Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5838/18335 5701/17388 1901/5795 chr14 104949750
chr14:104949762 G
G
 A
A
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5689C>T
c.5689C>T
 p.Pro1897Ser
p.Pro1897Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5826/18335 5689/17388 1897/5795 chr14 104949762
chr14:104949765 C
C
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5686G>C
c.5686G>C
 p.Val1896Leu
p.Val1896Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5823/18335 5686/17388 1896/5795 chr14 104949765
chr14:104949766 C
C
 A
A
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5685G>T
c.5685G>T
 p.Gln1895His
p.Gln1895His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5822/18335 5685/17388 1895/5795 chr14 104949766
chr14:104949766 C
C
 G
G
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5685G>C
c.5685G>C
 p.Gln1895His
p.Gln1895His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5822/18335 5685/17388 1895/5795 chr14 104949766
chr14:104949767 T
T
 G
G
 6 a0069
a0074
a0075
others(3): Show 
a0069
a0074
a0075
a0080
a0081
a0086
 6 HG01167.hp2
HG02717.hp2
HG03195.hp2
others(3): Show 
HG01167.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5684A>C
c.5684A>C
 p.Gln1895Pro
p.Gln1895Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5821/18335 5684/17388 1895/5795 chr14 104949767
chr14:104949785 A
A
 G
G
 1 a0069
a0069
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.5666T>C
c.5666T>C
 p.Met1889Thr
p.Met1889Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5803/18335 5666/17388 1889/5795 chr14 104949785
chr14:104949786 T
T
 C
C
 7 a0069
a0074
a0075
others(4): Show 
a0069
a0074
a0075
a0080
a0081
a0086
a0133
 7 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5665A>G
c.5665A>G
 p.Met1889Val
p.Met1889Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5802/18335 5665/17388 1889/5795 chr14 104949786
chr14:104949789 C
C
 T
T
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5662G>A
c.5662G>A
 p.Asp1888Asn
p.Asp1888Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5799/18335 5662/17388 1888/5795 chr14 104949789
chr14:104949809 A
A
 T
T
 8 a0069
a0070
a0074
others(5): Show 
a0069
a0070
a0074
a0075
a0080
a0081
a0086
a0133
 8 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(5): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03209.hp1
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5642T>A
c.5642T>A
 p.Val1881Glu
p.Val1881Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5779/18335 5642/17388 1881/5795 chr14 104949809
chr14:104949814 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5637C>A
c.5637C>A
 p.Asp1879Glu
p.Asp1879Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5774/18335 5637/17388 1879/5795 chr14 104949814
chr14:104949816 C
C
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5635G>C
c.5635G>C
 p.Asp1879His
p.Asp1879His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5772/18335 5635/17388 1879/5795 chr14 104949816
chr14:104949827 A
A
 G
G
 7 a0069
a0074
a0075
others(4): Show 
a0069
a0074
a0075
a0080
a0081
a0086
a0133
 7 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5624T>C
c.5624T>C
 p.Leu1875Pro
p.Leu1875Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5761/18335 5624/17388 1875/5795 chr14 104949827
chr14:104949828 G
G
 A
A
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5623C>T
c.5623C>T
 p.Leu1875Phe
p.Leu1875Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5760/18335 5623/17388 1875/5795 chr14 104949828
chr14:104949830 G
G
 T
T
 7 a0069
a0074
a0075
others(4): Show 
a0069
a0074
a0075
a0080
a0081
a0086
a0133
 7 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5621C>A
c.5621C>A
 p.Pro1874Gln
p.Pro1874Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5758/18335 5621/17388 1874/5795 chr14 104949830
chr14:104949837 A
A
 T
T
 9 a0065
a0069
a0074
others(6): Show 
a0065
a0069
a0074
a0075
a0080
a0081
a0086
a0133
a0152
 9 HG00673.hp2
HG01167.hp2
HG02630.hp2
others(6): Show 
HG00673.hp2
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
HG03942.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5614T>A
c.5614T>A
 p.Cys1872Ser
p.Cys1872Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5751/18335 5614/17388 1872/5795 chr14 104949837
chr14:104949840 G
G
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5611C>A
c.5611C>A
 p.Leu1871Ile
p.Leu1871Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5748/18335 5611/17388 1871/5795 chr14 104949840
chr14:104949849 T
T
 C
C
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5602A>G
c.5602A>G
 p.Thr1868Ala
p.Thr1868Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5739/18335 5602/17388 1868/5795 chr14 104949849
chr14:104949849 TCTTGAGG
others(983): Show 
TCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTC
GGCGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACAC
CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG
CAGTCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTG
TCCAGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGA
CACCTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCA
GCTTGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGC
ATCTTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGC
TCCCTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCT
GGACCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC
AGGTCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTC
AGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAA
ATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC
ACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAG
CTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCT
TCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTG
GGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTT
GAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT
CGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACC
TCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGC
 T
T
 3 a0050
a0137
a0138
a0050
a0137
a0138
 4 HG01257.hp2
HG01258.hp1
HG02647.hp1
others(1): Show 
HG01257.hp2
HG01258.hp1
HG02647.hp1
HG02809.hp1
 conservative_inframe_deletion MODERATE c.4612_5601del
c.4612_5601del
 p.Ala1538_Lys1867del
p.Ala1538_Lys1867del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5738/18335 4612/17388 1538/5795 chr14 104949849
chr14:104949853 GAGGTCCC
others(488): Show 
GAGGTCCCCCTGCATGGAGGGGAGGCTCACTTCGGCCTCCACCTTCGGCG
CAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCCG
AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT
CACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCA
GCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACC
TCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTT
GGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCT
TCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCC
TCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGAC
CTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTC
 G
G
 1 a0108
a0108
 1 HG02572.hp1
HG02572.hp1
 disruptive_inframe_deletion MODERATE c.5103_5597del
c.5103_5597del
 p.Lys1702_Leu1866del
p.Lys1702_Leu1866del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5734/18335 5103/17388 1701/5795 chr14 104949853
chr14:104949873 G
G
 A
A
 1 a0116
a0116
 1 NA20905.hp1
NA20905.hp1
 missense_variant MODERATE c.5578C>T
c.5578C>T
 p.Pro1860Ser
p.Pro1860Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5715/18335 5578/17388 1860/5795 chr14 104949873
chr14:104949882 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5569G>A
c.5569G>A
 p.Val1857Met
p.Val1857Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5706/18335 5569/17388 1857/5795 chr14 104949882
chr14:104949883 T
T
 A
A
 147 a0001
a0004
a0005
others(144): Show 
a0001
a0004
a0005
a0006
a0009
a0010
a0011
a0012
a0013
a0014
a0016
a0017
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0034
a0035
a0037
a0038
a0039
a0040
a0041
a0043
a0044
a0045
a0046
a0051
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0065
a0066
a0068
a0069
a0070
a0071
a0072
a0073
a0077
a0078
a0080
a0081
a0082
a0083
a0085
a0086
a0087
a0088
a0089
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0099
a0100
a0101
a0103
a0104
a0105
a0107
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0118
a0119
a0122
a0123
a0124
a0129
a0130
a0132
a0134
a0135
a0136
a0139
a0141
a0142
a0143
a0144
a0145
a0146
a0147
a0148
a0149
a0150
a0151
a0152
a0153
a0154
a0155
a0156
a0157
a0158
a0159
a0160
a0161
a0162
a0163
a0164
a0169
a0171
a0172
a0186
a0188
a0189
a0190
a0192
a0193
a0194
a0195
a0196
a0197
a0199
a0201
a0203
a0204
a0205
a0206
a0207
a0208
a0209
a0210
a0211
 240 HG00099.hp1
HG00140.hp2
HG00323.hp1
others(237): Show 
HG00099.hp1
HG00140.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.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
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.5568A>T
c.5568A>T
 p.Glu1856Asp
p.Glu1856Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5705/18335 5568/17388 1856/5795 chr14 104949883
chr14:104949883 T
T
 G
G
 16 a0028
a0032
a0036
others(13): Show 
a0028
a0032
a0036
a0064
a0067
a0074
a0075
a0076
a0102
a0125
a0126
a0127
a0128
a0131
a0133
a0191
 19 HG01884.hp2
HG02258.hp2
HG02280.hp1
others(16): Show 
HG01884.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03130.hp1
HG03209.hp2
HG06807.hp2
NA18522.hp1
NA19030.hp1
NA20129.hp2
 missense_variant MODERATE c.5568A>C
c.5568A>C
 p.Glu1856Asp
p.Glu1856Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5705/18335 5568/17388 1856/5795 chr14 104949883
chr14:104949893 A
A
 G
G
 35 a0006
a0010
a0012
others(32): Show 
a0006
a0010
a0012
a0013
a0020
a0032
a0036
a0038
a0040
a0043
a0087
a0088
a0091
a0092
a0093
a0097
a0125
a0126
a0127
a0128
a0131
a0136
a0139
a0151
a0152
a0153
a0154
a0156
a0158
a0171
a0186
a0190
a0191
a0199
a0206
 58 HG00438.hp1
HG00558.hp2
HG00609.hp2
others(55): Show 
HG00438.hp1
HG00558.hp2
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG02040.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02922.hp1
HG03209.hp2
HG03704.hp2
HG03834.hp2
HG04184.hp2
HG06807.hp2
NA18522.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp2
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18968.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19002.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19012.hp1
NA19012.hp2
NA19055.hp1
NA19065.hp1
NA19070.hp1
NA19076.hp2
NA19077.hp1
NA19091.hp1
 missense_variant MODERATE c.5558T>C
c.5558T>C
 p.Val1853Ala
p.Val1853Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5695/18335 5558/17388 1853/5795 chr14 104949893
chr14:104949899 G
G
 A
A
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.5552C>T
c.5552C>T
 p.Pro1851Leu
p.Pro1851Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5689/18335 5552/17388 1851/5795 chr14 104949899
chr14:104949900 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5551C>T
c.5551C>T
 p.Pro1851Ser
p.Pro1851Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5688/18335 5551/17388 1851/5795 chr14 104949900
chr14:104949902 G
G
 T
T
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5549C>A
c.5549C>A
 p.Ala1850Glu
p.Ala1850Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5686/18335 5549/17388 1850/5795 chr14 104949902
chr14:104949902 GCAGACAC
others(488): Show 
GCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCAGACACCCC
GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG
TCACATCCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCC
AGCTTGGCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACAC
CTCCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCT
TGGGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATC
TTCAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCC
CTCGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGA
CCTCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGG
TCCCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCT
 G
G
 1 a0122
a0122
 1 NA19043.hp2
NA19043.hp2
 disruptive_inframe_deletion MODERATE c.5054_5548del
c.5054_5548del
 p.Glu1685_Ser1849del
p.Glu1685_Ser1849del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5685/18335 5054/17388 1685/5795 chr14 104949902
chr14:104949914 A
A
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5537T>C
c.5537T>C
 p.Val1846Ala
p.Val1846Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5674/18335 5537/17388 1846/5795 chr14 104949914
chr14:104949917 G
G
 A
A
 2 a0100
a0133
a0100
a0133
 2 HG02630.hp2
NA19030.hp2
HG02630.hp2
NA19030.hp2
 missense_variant MODERATE c.5534C>T
c.5534C>T
 p.Ser1845Leu
p.Ser1845Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5671/18335 5534/17388 1845/5795 chr14 104949917
chr14:104949920 G
G
 A
A
 1 a0079
a0079
 1 HG03098.hp1
HG03098.hp1
 missense_variant MODERATE c.5531C>T
c.5531C>T
 p.Ala1844Val
p.Ala1844Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5668/18335 5531/17388 1844/5795 chr14 104949920
chr14:104949920 G
G
 T
T
 2 a0031
a0119
a0031
a0119
 3 HG03491.hp1
HG03492.hp1
HG03688.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp2
 missense_variant MODERATE c.5531C>A
c.5531C>A
 p.Ala1844Asp
p.Ala1844Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5668/18335 5531/17388 1844/5795 chr14 104949920
chr14:104949923 T
T
 G
G
 2 a0061
a0086
a0061
a0086
 2 HG01884.hp1
HG03942.hp1
HG01884.hp1
HG03942.hp1
 missense_variant MODERATE c.5528A>C
c.5528A>C
 p.Glu1843Ala
p.Glu1843Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5665/18335 5528/17388 1843/5795 chr14 104949923
chr14:104949925 G
G
 C
C
 5 a0031
a0058
a0118
others(2): Show 
a0031
a0058
a0118
a0119
a0150
 6 HG02698.hp1
HG02965.hp2
HG03491.hp1
others(3): Show 
HG02698.hp1
HG02965.hp2
HG03491.hp1
HG03492.hp1
HG03688.hp2
NA18970.hp1
 missense_variant MODERATE c.5526C>G
c.5526C>G
 p.Ile1842Met
p.Ile1842Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5663/18335 5526/17388 1842/5795 chr14 104949925
chr14:104949925 GATGGACT
others(1478): Show 
GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG
GCATTTTGAACTTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGAC
AGGTCACCCTCCAGCCGCACACTGTCCAGCTTGGCTCCTGGAGCCTCGAC
GTCCACCTCCACGCTGGGCAGAGACACCTCCACGTCGGGGGCCATCACCT
CCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGG
GGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTT
GGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGA
GTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGAC
TGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCT
CACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGG
ACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATT
TTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTC
CCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCA
CCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACC
TTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCC
CTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCA
GGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTC
ACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTAT
GCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGT
CGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTG
CCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAA
CTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCT
CCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCC
ACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGG
GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA
GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC
CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC
CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA
GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC
TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA
 G
G
 2 a0014
a0164
a0014
a0164
 5 NA18959.hp1
NA18961.hp1
NA18967.hp2
others(2): Show 
NA18959.hp1
NA18961.hp1
NA18967.hp2
NA19000.hp2
NA19085.hp2
 disruptive_inframe_deletion MODERATE c.4041_5525del
c.4041_5525del
 p.Glu1348_Ile1842del
p.Glu1348_Ile1842del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5662/18335 4041/17388 1347/5795 chr14 104949925
chr14:104949932 T
T
 C
C
 3 a0101
a0195
a0204
a0101
a0195
a0204
 3 HG00639.hp1
HG02723.hp2
HG03225.hp1
HG00639.hp1
HG02723.hp2
HG03225.hp1
 missense_variant MODERATE c.5519A>G
c.5519A>G
 p.Lys1840Arg
p.Lys1840Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5656/18335 5519/17388 1840/5795 chr14 104949932
chr14:104949933 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5518A>G
c.5518A>G
 p.Lys1840Glu
p.Lys1840Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5655/18335 5518/17388 1840/5795 chr14 104949933
chr14:104949935 C
C
 T
T
 3 a0055
a0070
a0205
a0055
a0070
a0205
 3 HG00733.hp1
HG02109.hp1
HG03209.hp1
HG00733.hp1
HG02109.hp1
HG03209.hp1
 missense_variant MODERATE c.5516G>A
c.5516G>A
 p.Gly1839Asp
p.Gly1839Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5653/18335 5516/17388 1839/5795 chr14 104949935
chr14:104949947 A
A
 G
G
 17 a0012
a0013
a0038
others(14): Show 
a0012
a0013
a0038
a0039
a0111
a0134
a0135
a0136
a0142
a0151
a0152
a0156
a0158
a0170
a0171
a0199
a0206
 25 HG00609.hp2
HG00621.hp1
HG00673.hp2
others(22): Show 
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01192.hp2
HG01981.hp2
HG02004.hp2
HG02074.hp2
HG02129.hp2
HG02155.hp1
HG02273.hp2
HG03704.hp2
HG04184.hp2
HG04228.hp2
NA18945.hp1
NA18948.hp1
NA18950.hp2
NA18956.hp1
NA18963.hp1
NA18983.hp1
NA18983.hp2
NA18999.hp1
NA19070.hp1
NA19076.hp2
NA19077.hp1
 missense_variant MODERATE c.5504T>C
c.5504T>C
 p.Val1835Ala
p.Val1835Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5641/18335 5504/17388 1835/5795 chr14 104949947
chr14:104949951 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5500G>A
c.5500G>A
 p.Gly1834Arg
p.Gly1834Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5637/18335 5500/17388 1834/5795 chr14 104949951
chr14:104949958 C
C
 CGGCATCT
others(488): Show 
CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACAT
CCTTGTCGGCCAGGGACAGGTCACCCTCCAGCCGCACACTGTCCAGCTTG
GCTCCTGGAGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCAC
GTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGC
CCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAA
CTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGG
AAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCA
GGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCC
TGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATC
CACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT
 1 a0162
a0162
 1 HG03471.hp2
HG03471.hp2
 disruptive_inframe_insertion MODERATE c.4998_5492dupATCATT
others(489): Show 
c.4998_5492dupATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGA
GGCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCC
CCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTCAGTCCCCT
TCCGCCGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGA
GGGCCCCCTTCCCGAGGGAGCCGGCTTCAAAGGGCACCTCCCCAAGGTGC
AGATGCCCAGTTTGAAGATGCCCAAAGTGGCCCTCAAGGGCCCCCAGATG
GACGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAGGTGAT
GGCCCCCGACGTGGAGGTGTCTCTGCCCAGCGTGGAGGTGGACGTCGAGG
CTCCAGGAGCCAAGCTGGACAGTGTGCGGCTGGAGGGTGACCTGTCCCTG
GCCGACAAGGATGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTT
CAAGATGCC
 p.Pro1831_Ser1832ins
others(495): Show 
p.Pro1831_Ser1832insSerPheGlyValSerAlaProGlyLysSer
IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe
rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS
erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu
ProGluGlyProLeuProGluGlyAlaGlyPheLysGlyHisLeuProLy
sValGlnMetProSerLeuLysMetProLysValAlaLeuLysGlyProG
lnMetAspValLysGlyProLysLeuAspLeuLysGlyProLysAlaGlu
ValMetAlaProAspValGluValSerLeuProSerValGluValAspVa
lGluAlaProGlyAlaLysLeuAspSerValArgLeuGluGlyAspLeuS
erLeuAlaAspLysAspValThrAlaLysAspSerLysPheLysMetPro
LysPheLysMetPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5629/18335 5492/17388 1831/5795 chr14 104949958
chr14:104949959 G
G
 A
A
 3 a0063
a0064
a0159
a0063
a0064
a0159
 3 HG03130.hp1
HG03130.hp2
HG06807.hp1
HG03130.hp1
HG03130.hp2
HG06807.hp1
 missense_variant MODERATE c.5492C>T
c.5492C>T
 p.Pro1831Leu
p.Pro1831Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5629/18335 5492/17388 1831/5795 chr14 104949959
chr14:104949961 C
C
 A
A
 6 a0026
a0051
a0085
others(3): Show 
a0026
a0051
a0085
a0124
a0157
a0163
 8 HG01167.hp1
HG01169.hp1
HG01255.hp2
others(5): Show 
HG01167.hp1
HG01169.hp1
HG01255.hp2
HG02258.hp1
HG03041.hp2
HG03453.hp2
HG03486.hp2
NA19043.hp1
 missense_variant MODERATE c.5490G>T
c.5490G>T
 p.Met1830Ile
p.Met1830Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5627/18335 5490/17388 1830/5795 chr14 104949961
chr14:104949986 T
T
 C
C
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.5465A>G
c.5465A>G
 p.Lys1822Arg
p.Lys1822Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5602/18335 5465/17388 1822/5795 chr14 104949986
chr14:104949999 C
C
 T
T
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5452G>A
c.5452G>A
 p.Ala1818Thr
p.Ala1818Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5589/18335 5452/17388 1818/5795 chr14 104949999
chr14:104950005 C
C
 A
A
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5446G>T
c.5446G>T
 p.Val1816Leu
p.Val1816Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5583/18335 5446/17388 1816/5795 chr14 104950005
chr14:104950005 C
C
 T
T
 1 a0196
a0196
 1 HG02486.hp2
HG02486.hp2
 missense_variant MODERATE c.5446G>A
c.5446G>A
 p.Val1816Met
p.Val1816Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5583/18335 5446/17388 1816/5795 chr14 104950005
chr14:104950006 A
A
 C
C
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5445T>G
c.5445T>G
 p.Asp1815Glu
p.Asp1815Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5582/18335 5445/17388 1815/5795 chr14 104950006
chr14:104950007 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5444A>G
c.5444A>G
 p.Asp1815Gly
p.Asp1815Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5581/18335 5444/17388 1815/5795 chr14 104950007
chr14:104950007 T
T
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5444A>C
c.5444A>C
 p.Asp1815Ala
p.Asp1815Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5581/18335 5444/17388 1815/5795 chr14 104950007
chr14:104950014 C
C
 T
T
 3 a0082
a0083
a0130
a0082
a0083
a0130
 3 HG02055.hp2
HG02976.hp2
NA18522.hp2
HG02055.hp2
HG02976.hp2
NA18522.hp2
 missense_variant MODERATE c.5437G>A
c.5437G>A
 p.Asp1813Asn
p.Asp1813Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5574/18335 5437/17388 1813/5795 chr14 104950014
chr14:104950026 G
G
 T
T
 4 a0064
a0074
a0075
others(1): Show 
a0064
a0074
a0075
a0086
 4 HG02717.hp2
HG03130.hp1
HG03942.hp1
others(1): Show 
HG02717.hp2
HG03130.hp1
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5425C>A
c.5425C>A
 p.Leu1809Met
p.Leu1809Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5562/18335 5425/17388 1809/5795 chr14 104950026
chr14:104950031 C
C
 T
T
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5420G>A
c.5420G>A
 p.Gly1807Asp
p.Gly1807Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5557/18335 5420/17388 1807/5795 chr14 104950031
chr14:104950043 A
A
 C
C
 3 a0074
a0075
a0086
a0074
a0075
a0086
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 missense_variant MODERATE c.5408T>G
c.5408T>G
 p.Val1803Gly
p.Val1803Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5545/18335 5408/17388 1803/5795 chr14 104950043
chr14:104950043 A
A
 G
G
 9 a0018
a0064
a0069
others(6): Show 
a0018
a0064
a0069
a0080
a0081
a0090
a0114
a0133
a0196
 11 HG00597.hp2
HG01167.hp2
HG02486.hp2
others(8): Show 
HG00597.hp2
HG01167.hp2
HG02486.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 missense_variant MODERATE c.5408T>C
c.5408T>C
 p.Val1803Ala
p.Val1803Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5545/18335 5408/17388 1803/5795 chr14 104950043
chr14:104950047 T
T
 C
C
 9 a0064
a0069
a0074
others(6): Show 
a0064
a0069
a0074
a0075
a0080
a0081
a0086
a0114
a0133
 9 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(6): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.5404A>G
c.5404A>G
 p.Ser1802Gly
p.Ser1802Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5541/18335 5404/17388 1802/5795 chr14 104950047
chr14:104950062 C
C
 T
T
 5 a0069
a0080
a0081
others(2): Show 
a0069
a0080
a0081
a0114
a0133
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
 missense_variant MODERATE c.5389G>A
c.5389G>A
 p.Gly1797Arg
p.Gly1797Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5526/18335 5389/17388 1797/5795 chr14 104950062
chr14:104950071 C
C
 G
G
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5380G>C
c.5380G>C
 p.Glu1794Gln
p.Glu1794Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5517/18335 5380/17388 1794/5795 chr14 104950071
chr14:104950071 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5380G>A
c.5380G>A
 p.Glu1794Lys
p.Glu1794Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5517/18335 5380/17388 1794/5795 chr14 104950071
chr14:104950074 C
C
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.5377G>A
c.5377G>A
 p.Val1793Ile
p.Val1793Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5514/18335 5377/17388 1793/5795 chr14 104950074
chr14:104950075 G
G
 T
T
 1 a0099
a0099
 1 HG01891.hp2
HG01891.hp2
 missense_variant MODERATE c.5376C>A
c.5376C>A
 p.Asp1792Glu
p.Asp1792Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5513/18335 5376/17388 1792/5795 chr14 104950075
chr14:104950086 C
C
 T
T
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5365G>A
c.5365G>A
 p.Val1789Met
p.Val1789Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5502/18335 5365/17388 1789/5795 chr14 104950086
chr14:104950092 G
G
 A
A
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5359C>T
c.5359C>T
 p.Pro1787Ser
p.Pro1787Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5496/18335 5359/17388 1787/5795 chr14 104950092
chr14:104950101 C
C
 T
T
 4 a0069
a0080
a0081
others(1): Show 
a0069
a0080
a0081
a0133
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5350G>A
c.5350G>A
 p.Val1784Met
p.Val1784Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5487/18335 5350/17388 1784/5795 chr14 104950101
chr14:104950104 C
C
 T
T
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5347G>A
c.5347G>A
 p.Glu1783Lys
p.Glu1783Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5484/18335 5347/17388 1783/5795 chr14 104950104
chr14:104950104 CCACGTCG
others(488): Show 
CCACGTCGGGGGCCATCACCTCCGCCTTGGGGCCTTTCAGGTCCAGCTTG
GGGCCCTTGACGTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTT
CAAACTGGGCATCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCT
CGGGAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACC
TCCAGGTCGGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTC
CCCCTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACA
CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGAT
GGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGC
CTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTG
CTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTT
 C
C
 2 a0074
a0075
a0074
a0075
 2 HG02717.hp2
NA20129.hp2
HG02717.hp2
NA20129.hp2
 conservative_inframe_deletion MODERATE c.4852_5346del
c.4852_5346del
 p.Lys1618_Val1782del
p.Lys1618_Val1782del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5483/18335 4852/17388 1618/5795 chr14 104950104
chr14:104950117 C
C
 T
T
 7 a0018
a0064
a0069
others(4): Show 
a0018
a0064
a0069
a0080
a0081
a0086
a0133
 9 HG01167.hp2
HG02630.hp2
HG03130.hp1
others(6): Show 
HG01167.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 missense_variant MODERATE c.5334G>A
c.5334G>A
 p.Met1778Ile
p.Met1778Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5471/18335 5334/17388 1778/5795 chr14 104950117
chr14:104950118 A
A
 G
G
 8 a0018
a0064
a0069
others(5): Show 
a0018
a0064
a0069
a0080
a0081
a0086
a0114
a0133
 10 HG01167.hp2
HG02630.hp2
HG03130.hp1
others(7): Show 
HG01167.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 missense_variant MODERATE c.5333T>C
c.5333T>C
 p.Met1778Thr
p.Met1778Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5470/18335 5333/17388 1778/5795 chr14 104950118
chr14:104950127 G
G
 A
A
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5324C>T
c.5324C>T
 p.Ala1775Val
p.Ala1775Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5461/18335 5324/17388 1775/5795 chr14 104950127
chr14:104950127 GCCTTGGG
others(983): Show 
GCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCATCTGGGG
GCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCATCTGCACCTTGG
GGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGGCCCTCCGGGAGT
TTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGCGGAAGGGGACTG
AATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGGCTCA
CATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAGGCCTCGATGGAC
TTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAACTTGGGCATTTT
GAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCAGGGACAGGTCCC
CCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACC
TCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTT
GGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCT
TGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGG
TGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCAC
GTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGC
TCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCG
GCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCC
TGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACT
TGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCC
AGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCAC
GCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCA
 G
G
 1 a0125
a0125
 1 HG06807.hp2
HG06807.hp2
 disruptive_inframe_deletion MODERATE c.4334_5323del
c.4334_5323del
 p.Val1445_Lys1774del
p.Val1445_Lys1774del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5460/18335 4334/17388 1445/5795 chr14 104950127
chr14:104950136 C
C
 T
T
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5315G>A
c.5315G>A
 p.Gly1772Asp
p.Gly1772Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5452/18335 5315/17388 1772/5795 chr14 104950136
chr14:104950137 C
C
 T
T
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 missense_variant MODERATE c.5314G>A
c.5314G>A
 p.Gly1772Ser
p.Gly1772Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5451/18335 5314/17388 1772/5795 chr14 104950137
chr14:104950164 C
C
 T
T
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5287G>A
c.5287G>A
 p.Val1763Ile
p.Val1763Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5424/18335 5287/17388 1763/5795 chr14 104950164
chr14:104950165 GTCCATCT
others(1478): Show 
GTCCATCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTCAAACTGGGCA
TCTGCACCTTGGGGAGGTGCCCTTTGAAGCCGGCTCCCTCGGGAAGGGGG
CCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCCAGGTCGGC
GGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGG
AGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACATCCACCGAG
GCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCTTGAA
CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCGGCCA
GGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGGGGCC
TGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGT
CACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTA
TCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTGC
ACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGCCCTC
TGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCAGAAG
GGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGG
AGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTC
GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG
GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC
ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC
ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT
CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA
GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT
GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA
GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC
TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT
CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGG
ACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATT
TTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTC
CCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCA
CCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCC
TTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT
 G
G
 1 a0018
a0018
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 disruptive_inframe_deletion MODERATE c.3801_5285del
c.3801_5285del
 p.Glu1267_Met1761del
p.Glu1267_Met1761del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5422/18335 3801/17388 1267/5795 chr14 104950165
chr14:104950168 C
C
 T
T
 7 a0064
a0069
a0080
others(4): Show 
a0064
a0069
a0080
a0081
a0086
a0114
a0133
 7 HG01167.hp2
HG02630.hp2
HG03130.hp1
others(4): Show 
HG01167.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5283G>A
c.5283G>A
 p.Met1761Ile
p.Met1761Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5420/18335 5283/17388 1761/5795 chr14 104950168
chr14:104950170 T
T
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5281A>C
c.5281A>C
 p.Met1761Leu
p.Met1761Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5418/18335 5281/17388 1761/5795 chr14 104950170
chr14:104950173 G
G
 C
C
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5278C>G
c.5278C>G
 p.Gln1760Glu
p.Gln1760Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5415/18335 5278/17388 1760/5795 chr14 104950173
chr14:104950187 G
G
 T
T
 8 a0055
a0064
a0069
others(5): Show 
a0055
a0064
a0069
a0080
a0081
a0086
a0114
a0133
 8 HG01167.hp2
HG02109.hp1
HG02630.hp2
others(5): Show 
HG01167.hp2
HG02109.hp1
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5264C>A
c.5264C>A
 p.Ala1755Asp
p.Ala1755Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5401/18335 5264/17388 1755/5795 chr14 104950187
chr14:104950191 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5260G>A
c.5260G>A
 p.Val1754Met
p.Val1754Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5397/18335 5260/17388 1754/5795 chr14 104950191
chr14:104950194 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5257A>G
c.5257A>G
 p.Lys1753Glu
p.Lys1753Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5394/18335 5257/17388 1753/5795 chr14 104950194
chr14:104950200 T
T
 C
C
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5251A>G
c.5251A>G
 p.Met1751Val
p.Met1751Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5388/18335 5251/17388 1751/5795 chr14 104950200
chr14:104950204 C
C
 G
G
 9 a0061
a0064
a0069
others(6): Show 
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5247G>C
c.5247G>C
 p.Leu1749Phe
p.Leu1749Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5384/18335 5247/17388 1749/5795 chr14 104950204
chr14:104950218 G
G
 C
C
 1 a0070
a0070
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.5233C>G
c.5233C>G
 p.Gln1745Glu
p.Gln1745Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5370/18335 5233/17388 1745/5795 chr14 104950218
chr14:104950221 C
C
 G
G
 2 a0064
a0086
a0064
a0086
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 missense_variant MODERATE c.5230G>C
c.5230G>C
 p.Val1744Leu
p.Val1744Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5367/18335 5230/17388 1744/5795 chr14 104950221
chr14:104950242 A
A
 G
G
 9 a0061
a0064
a0069
others(6): Show 
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5209T>C
c.5209T>C
 p.Phe1737Leu
p.Phe1737Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5346/18335 5209/17388 1737/5795 chr14 104950242
chr14:104950247 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5204C>T
c.5204C>T
 p.Ala1735Val
p.Ala1735Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5341/18335 5204/17388 1735/5795 chr14 104950247
chr14:104950250 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5201G>A
c.5201G>A
 p.Gly1734Glu
p.Gly1734Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5338/18335 5201/17388 1734/5795 chr14 104950250
chr14:104950257 G
G
 A
A
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.5194C>T
c.5194C>T
 p.Pro1732Ser
p.Pro1732Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5331/18335 5194/17388 1732/5795 chr14 104950257
chr14:104950260 G
G
 C
C
 9 a0061
a0064
a0069
others(6): Show 
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5191C>G
c.5191C>G
 p.Leu1731Val
p.Leu1731Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5328/18335 5191/17388 1731/5795 chr14 104950260
chr14:104950262 G
G
 T
T
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.5189C>A
c.5189C>A
 p.Pro1730His
p.Pro1730His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5326/18335 5189/17388 1730/5795 chr14 104950262
chr14:104950271 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5180C>T
c.5180C>T
 p.Pro1727Leu
p.Pro1727Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5317/18335 5180/17388 1727/5795 chr14 104950271
chr14:104950284 T
T
 C
C
 15 a0032
a0061
a0064
others(12): Show 
a0032
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0102
a0103
a0114
a0127
a0128
a0133
a0196
 16 HG01167.hp2
HG01884.hp1
HG02486.hp2
others(13): Show 
HG01167.hp2
HG01884.hp1
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02976.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18522.hp1
NA20129.hp1
NA20300.hp2
 missense_variant MODERATE c.5167A>G
c.5167A>G
 p.Asn1723Asp
p.Asn1723Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5304/18335 5167/17388 1723/5795 chr14 104950284
chr14:104950287 C
C
 A
A
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5164G>T
c.5164G>T
 p.Val1722Leu
p.Val1722Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5301/18335 5164/17388 1722/5795 chr14 104950287
chr14:104950302 C
C
 G
G
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5149G>C
c.5149G>C
 p.Val1717Leu
p.Val1717Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5286/18335 5149/17388 1717/5795 chr14 104950302
chr14:104950305 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5146G>A
c.5146G>A
 p.Glu1716Lys
p.Glu1716Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5283/18335 5146/17388 1716/5795 chr14 104950305
chr14:104950308 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5143C>G
c.5143C>G
 p.Leu1715Val
p.Leu1715Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5280/18335 5143/17388 1715/5795 chr14 104950308
chr14:104950309 G
G
 T
T
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.5142C>A
c.5142C>A
 p.Asp1714Glu
p.Asp1714Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5279/18335 5142/17388 1714/5795 chr14 104950309
chr14:104950311 C
C
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.5140G>C
c.5140G>C
 p.Asp1714His
p.Asp1714His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5277/18335 5140/17388 1714/5795 chr14 104950311
chr14:104950314 C
C
 T
T
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5137G>A
c.5137G>A
 p.Ala1713Thr
p.Ala1713Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5274/18335 5137/17388 1713/5795 chr14 104950314
chr14:104950319 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5132C>T
c.5132C>T
 p.Pro1711Leu
p.Pro1711Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5269/18335 5132/17388 1711/5795 chr14 104950319
chr14:104950323 A
A
 G
G
 11 a0061
a0064
a0069
others(8): Show 
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0114
a0133
a0142
a0195
 11 HG01167.hp2
HG01884.hp1
HG02074.hp2
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02074.hp2
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03688.hp1
HG03942.hp1
NA20129.hp1
 missense_variant MODERATE c.5128T>C
c.5128T>C
 p.Ser1710Pro
p.Ser1710Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5265/18335 5128/17388 1710/5795 chr14 104950323
chr14:104950329 T
T
 C
C
 1 a0195
a0195
 1 HG03225.hp1
HG03225.hp1
 missense_variant MODERATE c.5122A>G
c.5122A>G
 p.Ile1708Val
p.Ile1708Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5259/18335 5122/17388 1708/5795 chr14 104950329
chr14:104950335 G
G
 T
T
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.5116C>A
c.5116C>A
 p.Leu1706Ile
p.Leu1706Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5253/18335 5116/17388 1706/5795 chr14 104950335
chr14:104950338 C
C
 G
G
 22 a0012
a0013
a0038
others(19): Show 
a0012
a0013
a0038
a0039
a0040
a0041
a0043
a0134
a0135
a0136
a0139
a0140
a0151
a0152
a0153
a0154
a0155
a0156
a0158
a0190
a0199
a0206
 33 HG00438.hp1
HG00609.hp2
HG00621.hp1
others(30): Show 
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01192.hp2
HG01256.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG03704.hp2
HG04184.hp2
NA18943.hp2
NA18945.hp1
NA18950.hp1
NA18950.hp2
NA18953.hp2
NA18956.hp1
NA18963.hp1
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18998.hp1
NA18999.hp1
NA19055.hp1
NA19070.hp1
NA19076.hp2
NA19077.hp1
NA19091.hp1
 missense_variant MODERATE c.5113G>C
c.5113G>C
 p.Asp1705His
p.Asp1705His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5250/18335 5113/17388 1705/5795 chr14 104950338
chr14:104950344 T
T
 C
C
 9 a0028
a0061
a0069
others(6): Show 
a0028
a0061
a0069
a0080
a0081
a0089
a0111
a0133
a0186
 10 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(7): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03195.hp2
HG04228.hp2
NA19012.hp1
NA20129.hp1
 missense_variant MODERATE c.5107A>G
c.5107A>G
 p.Thr1703Ala
p.Thr1703Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5244/18335 5107/17388 1703/5795 chr14 104950344
chr14:104950368 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5083C>T
c.5083C>T
 p.Pro1695Ser
p.Pro1695Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5220/18335 5083/17388 1695/5795 chr14 104950368
chr14:104950371 G
G
 A
A
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.5080C>T
c.5080C>T
 p.Leu1694Phe
p.Leu1694Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5217/18335 5080/17388 1694/5795 chr14 104950371
chr14:104950376 A
A
 C
C
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.5075T>G
c.5075T>G
 p.Val1692Gly
p.Val1692Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5212/18335 5075/17388 1692/5795 chr14 104950376
chr14:104950377 C
C
 T
T
 3 a0020
a0064
a0086
a0020
a0064
a0086
 5 HG02056.hp1
HG03130.hp1
HG03942.hp1
others(2): Show 
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.5074G>A
c.5074G>A
 p.Val1692Met
p.Val1692Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5211/18335 5074/17388 1692/5795 chr14 104950377
chr14:104950386 C
C
 T
T
 1 a0070
a0070
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.5065G>A
c.5065G>A
 p.Glu1689Lys
p.Glu1689Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5202/18335 5065/17388 1689/5795 chr14 104950386
chr14:104950388 A
A
 G
G
 1 a0070
a0070
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.5063T>C
c.5063T>C
 p.Val1688Ala
p.Val1688Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5200/18335 5063/17388 1688/5795 chr14 104950388
chr14:104950394 G
G
 A
A
 2 a0070
a0114
a0070
a0114
 2 HG03209.hp1
HG03688.hp1
HG03209.hp1
HG03688.hp1
 missense_variant MODERATE c.5057C>T
c.5057C>T
 p.Pro1686Leu
p.Pro1686Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5194/18335 5057/17388 1686/5795 chr14 104950394
chr14:104950397 T
T
 G
G
 12 a0020
a0052
a0061
others(9): Show 
a0020
a0052
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0120
a0133
a0141
 15 HG00099.hp2
HG01071.hp1
HG01081.hp1
others(12): Show 
HG00099.hp2
HG01071.hp1
HG01081.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.5054A>C
c.5054A>C
 p.Glu1685Ala
p.Glu1685Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5191/18335 5054/17388 1685/5795 chr14 104950397
chr14:104950398 C
C
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.5053G>C
c.5053G>C
 p.Glu1685Gln
p.Glu1685Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5190/18335 5053/17388 1685/5795 chr14 104950398
chr14:104950404 C
C
 G
G
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.5047G>C
c.5047G>C
 p.Val1683Leu
p.Val1683Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5184/18335 5047/17388 1683/5795 chr14 104950404
chr14:104950411 CGAGGCCT
others(488): Show 
CGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGCATCT
TGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTTGTCG
GCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTCTCGG
GGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGG
CTGTCACTTCCACCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACA
TCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCAT
CTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGACACAGGGC
CCTCTGGGAGTTTCACGTCCACTTGGCCAGCCTGGACCTCCAGGTCAGCA
GAAGGGGGCTGTATGCTCAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGA
GGGGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACT
 C
C
 1 a0043
a0043
 2 NA18943.hp2
NA19055.hp1
NA18943.hp2
NA19055.hp1
 disruptive_inframe_deletion MODERATE c.4545_5039del
c.4545_5039del
 p.Val1516_Ser1680del
p.Val1516_Ser1680del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5176/18335 4545/17388 1515/5795 chr14 104950411
chr14:104950415 G
G
 T
T
 2 a0120
a0122
a0120
a0122
 2 HG00099.hp2
NA19043.hp2
HG00099.hp2
NA19043.hp2
 missense_variant MODERATE c.5036C>A
c.5036C>A
 p.Ala1679Asp
p.Ala1679Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5173/18335 5036/17388 1679/5795 chr14 104950415
chr14:104950418 T
T
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.5033A>C
c.5033A>C
 p.Glu1678Ala
p.Glu1678Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5170/18335 5033/17388 1678/5795 chr14 104950418
chr14:104950420 G
G
 C
C
 2 a0120
a0122
a0120
a0122
 2 HG00099.hp2
NA19043.hp2
HG00099.hp2
NA19043.hp2
 missense_variant MODERATE c.5031C>G
c.5031C>G
 p.Ile1677Met
p.Ile1677Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5168/18335 5031/17388 1677/5795 chr14 104950420
chr14:104950426 C
C
 G
G
 1 a0070
a0070
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.5025G>C
c.5025G>C
 p.Lys1675Asn
p.Lys1675Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5162/18335 5025/17388 1675/5795 chr14 104950426
chr14:104950427 T
T
 C
C
 1 a0101
a0101
 1 HG00639.hp1
HG00639.hp1
 missense_variant MODERATE c.5024A>G
c.5024A>G
 p.Lys1675Arg
p.Lys1675Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5161/18335 5024/17388 1675/5795 chr14 104950427
chr14:104950428 T
T
 C
C
 3 a0042
a0054
a0068
a0042
a0054
a0068
 4 HG01496.hp1
HG02056.hp2
HG02630.hp1
others(1): Show 
HG01496.hp1
HG02056.hp2
HG02630.hp1
NA18941.hp1
 missense_variant MODERATE c.5023A>G
c.5023A>G
 p.Lys1675Glu
p.Lys1675Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5160/18335 5023/17388 1675/5795 chr14 104950428
chr14:104950439 G
G
 A
A
 1 a0086
a0086
 1 HG03942.hp1
HG03942.hp1
 missense_variant MODERATE c.5012C>T
c.5012C>T
 p.Ser1671Leu
p.Ser1671Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5149/18335 5012/17388 1671/5795 chr14 104950439
chr14:104950462 G
G
 C
C
 4 a0032
a0127
a0128
others(1): Show 
a0032
a0127
a0128
a0204
 5 HG02559.hp2
HG02615.hp1
HG02622.hp1
others(2): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp2
NA18522.hp1
 missense_variant MODERATE c.4989C>G
c.4989C>G
 p.Phe1663Leu
p.Phe1663Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5126/18335 4989/17388 1663/5795 chr14 104950462
chr14:104950471 C
C
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4980G>T
c.4980G>T
 p.Met1660Ile
p.Met1660Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5117/18335 4980/17388 1660/5795 chr14 104950471
chr14:104950481 T
T
 C
C
 2 a0064
a0133
a0064
a0133
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 missense_variant MODERATE c.4970A>G
c.4970A>G
 p.Lys1657Arg
p.Lys1657Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5107/18335 4970/17388 1657/5795 chr14 104950481
chr14:104950494 C
C
 T
T
 7 a0061
a0064
a0069
others(4): Show 
a0061
a0064
a0069
a0080
a0081
a0089
a0133
 7 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4957G>A
c.4957G>A
 p.Ala1653Thr
p.Ala1653Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5094/18335 4957/17388 1653/5795 chr14 104950494
chr14:104950500 C
C
 A
A
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4951G>T
c.4951G>T
 p.Val1651Leu
p.Val1651Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5088/18335 4951/17388 1651/5795 chr14 104950500
chr14:104950500 C
C
 T
T
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.4951G>A
c.4951G>A
 p.Val1651Met
p.Val1651Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5088/18335 4951/17388 1651/5795 chr14 104950500
chr14:104950502 G
G
 C
C
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.4949C>G
c.4949C>G
 p.Ala1650Gly
p.Ala1650Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5086/18335 4949/17388 1650/5795 chr14 104950502
chr14:104950502 G
G
 T
T
 14 a0020
a0034
a0051
others(11): Show 
a0020
a0034
a0051
a0061
a0064
a0069
a0080
a0081
a0082
a0086
a0089
a0132
a0133
a0195
 18 HG01167.hp1
HG01167.hp2
HG01169.hp1
others(15): Show 
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03225.hp1
HG03540.hp1
HG03942.hp1
NA18522.hp2
NA18906.hp2
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4949C>A
c.4949C>A
 p.Ala1650Glu
p.Ala1650Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5086/18335 4949/17388 1650/5795 chr14 104950502
chr14:104950509 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4942G>A
c.4942G>A
 p.Asp1648Asn
p.Asp1648Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5079/18335 4942/17388 1648/5795 chr14 104950509
chr14:104950515 G
G
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4936C>G
c.4936C>G
 p.Leu1646Val
p.Leu1646Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5073/18335 4936/17388 1646/5795 chr14 104950515
chr14:104950518 A
A
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4933T>A
c.4933T>A
 p.Ser1645Thr
p.Ser1645Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5070/18335 4933/17388 1645/5795 chr14 104950518
chr14:104950520 A
A
 T
T
 1 a0156
a0156
 1 NA19077.hp1
NA19077.hp1
 missense_variant MODERATE c.4931T>A
c.4931T>A
 p.Leu1644Gln
p.Leu1644Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5068/18335 4931/17388 1644/5795 chr14 104950520
chr14:104950521 G
G
 T
T
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4930C>A
c.4930C>A
 p.Leu1644Met
p.Leu1644Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5067/18335 4930/17388 1644/5795 chr14 104950521
chr14:104950526 C
C
 T
T
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4925G>A
c.4925G>A
 p.Gly1642Glu
p.Gly1642Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5062/18335 4925/17388 1642/5795 chr14 104950526
chr14:104950528 C
C
 G
G
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4923G>C
c.4923G>C
 p.Glu1641Asp
p.Glu1641Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5060/18335 4923/17388 1641/5795 chr14 104950528
chr14:104950530 C
C
 G
G
 4 a0064
a0124
a0157
others(1): Show 
a0064
a0124
a0157
a0163
 4 HG03130.hp1
HG03453.hp2
HG03486.hp2
others(1): Show 
HG03130.hp1
HG03453.hp2
HG03486.hp2
NA19043.hp1
 missense_variant MODERATE c.4921G>C
c.4921G>C
 p.Glu1641Gln
p.Glu1641Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5058/18335 4921/17388 1641/5795 chr14 104950530
chr14:104950534 C
C
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4917G>T
c.4917G>T
 p.Gln1639His
p.Gln1639His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5054/18335 4917/17388 1639/5795 chr14 104950534
chr14:104950535 T
T
 C
C
 38 a0006
a0009
a0010
others(35): Show 
a0006
a0009
a0010
a0017
a0019
a0027
a0053
a0061
a0062
a0066
a0069
a0070
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0114
a0133
a0136
a0185
a0207
a0211
 56 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(53): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG01167.hp2
HG01175.hp2
HG01884.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp2
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04184.hp2
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18952.hp1
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA20129.hp1
 missense_variant MODERATE c.4916A>G
c.4916A>G
 p.Gln1639Arg
p.Gln1639Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5053/18335 4916/17388 1639/5795 chr14 104950535
chr14:104950535 TGCGCACC
others(2468): Show 
TGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCT
GGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTT
TCAGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCC
ACTTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTT
GAGGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTT
GGCCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCA
GTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCAC
CTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAG
ACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCT
TTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCC
ACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCA
GAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGG
TCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTT
GGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGC
CGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCA
GCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGT
CTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGG
GTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACC
CCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGC
AGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCAT
CCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGAC
ACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAG
CTTGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCA
TCTTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCT
CCCTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTG
GACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGA
GGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCA
GACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAA
CGATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCA
CATCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGC
TTGGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTC
CACATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGG
GGCCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTG
AAACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTC
GGGCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCT
TCAGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCC
CCCTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACAC
ATCCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACG
GCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCC
TTGTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGC
CTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGCCAT
CGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCC
TTAACATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACT
GGGCATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCA
CAGGGCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGG
TCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTG
CATGGAGGAGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCA
CCGAGTCCTCCATGGACTTGCCTGGGGCCGACACCCCGAATGATGGCATC
TTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTC
GGCCAGGGACAGGTCCCCCTCCAGCC
 T
T
 1 a0104
a0104
 1 HG02015.hp2
HG02015.hp2
 disruptive_inframe_deletion MODERATE c.2441_4915del
c.2441_4915del
 p.Arg814_Ala1638del
p.Arg814_Ala1638del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5052/18335 2441/17388 814/5795 chr14 104950535
chr14:104950536 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 stop_gained HIGH c.4915C>T
c.4915C>T
 p.Gln1639*
p.Gln1639*
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5052/18335 4915/17388 1639/5795 chr14 104950536
chr14:104950538 G
G
 A
A
 2 a0122
a0139
a0122
a0139
 2 NA18980.hp1
NA19043.hp2
NA18980.hp1
NA19043.hp2
 missense_variant MODERATE c.4913C>T
c.4913C>T
 p.Ala1638Val
p.Ala1638Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5050/18335 4913/17388 1638/5795 chr14 104950538
chr14:104950538 G
G
 C
C
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4913C>G
c.4913C>G
 p.Ala1638Gly
p.Ala1638Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5050/18335 4913/17388 1638/5795 chr14 104950538
chr14:104950542 C
C
 T
T
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4909G>A
c.4909G>A
 p.Gly1637Ser
p.Gly1637Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5046/18335 4909/17388 1637/5795 chr14 104950542
chr14:104950557 T
T
 C
C
 8 a0020
a0061
a0069
others(5): Show 
a0020
a0061
a0069
a0080
a0081
a0086
a0089
a0133
 10 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(7): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4894A>G
c.4894A>G
 p.Arg1632Gly
p.Arg1632Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5031/18335 4894/17388 1632/5795 chr14 104950557
chr14:104950566 G
G
 C
C
 6 a0061
a0069
a0080
others(3): Show 
a0061
a0069
a0080
a0081
a0089
a0133
 6 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(3): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4885C>G
c.4885C>G
 p.Gln1629Glu
p.Gln1629Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5022/18335 4885/17388 1629/5795 chr14 104950566
chr14:104950569 C
C
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4882G>A
c.4882G>A
 p.Val1628Ile
p.Val1628Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5019/18335 4882/17388 1628/5795 chr14 104950569
chr14:104950574 A
A
 G
G
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.4877T>C
c.4877T>C
 p.Val1626Ala
p.Val1626Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5014/18335 4877/17388 1626/5795 chr14 104950574
chr14:104950581 T
T
 C
C
 10 a0020
a0061
a0069
others(7): Show 
a0020
a0061
a0069
a0080
a0081
a0086
a0089
a0133
a0193
a0194
 12 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(9): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02486.hp1
HG02630.hp2
HG03017.hp2
HG03195.hp2
HG03927.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4870A>G
c.4870A>G
 p.Met1624Val
p.Met1624Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5007/18335 4870/17388 1624/5795 chr14 104950581
chr14:104950587 A
A
 G
G
 9 a0020
a0061
a0064
others(6): Show 
a0020
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0133
 11 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4864T>C
c.4864T>C
 p.Ser1622Pro
p.Ser1622Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5001/18335 4864/17388 1622/5795 chr14 104950587
chr14:104950587 ACAGAGAC
others(1973): Show 
ACAGAGACATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTC
AGGTCCAGCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCAC
TTTGGGCATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGA
GGCCGGCTCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGG
CCAGCCTGGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGT
GGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCT
TCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGAC
ACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTT
GGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCAC
CATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGA
GAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTC
CAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGG
GCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCG
GCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGC
CTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCT
TGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGT
GCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCC
GAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAG
TCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCC
AACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACAC
AGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCT
TGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATC
TTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCC
CTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGA
CCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGG
TCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGA
CACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACG
ATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACA
TCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTT
GGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCA
CATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGG
CCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAA
ACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGG
GCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTC
AGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCC
CTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACAT
CCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGC
ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTT
GTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCT
TCTGGGCCTGGACATCCACCTCCATGCTGGG
 A
A
 1 a0051
a0051
 2 HG01167.hp1
HG01169.hp1
HG01167.hp1
HG01169.hp1
 conservative_inframe_deletion MODERATE c.2884_4863del
c.2884_4863del
 p.Pro962_Leu1621del
p.Pro962_Leu1621del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5000/18335 2884/17388 962/5795 chr14 104950587
chr14:104950589 A
A
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4862T>A
c.4862T>A
 p.Leu1621Gln
p.Leu1621Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4999/18335 4862/17388 1621/5795 chr14 104950589
chr14:104950594 C
C
 A
A
 5 a0061
a0069
a0080
others(2): Show 
a0061
a0069
a0080
a0081
a0089
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4857G>T
c.4857G>T
 p.Met1619Ile
p.Met1619Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4994/18335 4857/17388 1619/5795 chr14 104950594
chr14:104950596 T
T
 C
C
 9 a0020
a0061
a0064
others(6): Show 
a0020
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0133
 11 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4855A>G
c.4855A>G
 p.Met1619Val
p.Met1619Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4992/18335 4855/17388 1619/5795 chr14 104950596
chr14:104950597 C
C
 A
A
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4854G>T
c.4854G>T
 p.Lys1618Asn
p.Lys1618Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4991/18335 4854/17388 1618/5795 chr14 104950597
chr14:104950598 T
T
 G
G
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4853A>C
c.4853A>C
 p.Lys1618Thr
p.Lys1618Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4990/18335 4853/17388 1618/5795 chr14 104950598
chr14:104950599 T
T
 C
C
 9 a0020
a0061
a0064
others(6): Show 
a0020
a0061
a0064
a0069
a0080
a0081
a0086
a0089
a0133
 11 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 missense_variant MODERATE c.4852A>G
c.4852A>G
 p.Lys1618Glu
p.Lys1618Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4989/18335 4852/17388 1618/5795 chr14 104950599
chr14:104950603 A
A
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4848T>A
c.4848T>A
 p.Asp1616Glu
p.Asp1616Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4985/18335 4848/17388 1616/5795 chr14 104950603
chr14:104950607 G
G
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4844C>A
c.4844C>A
 p.Pro1615His
p.Pro1615His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4981/18335 4844/17388 1615/5795 chr14 104950607
chr14:104950610 G
G
 A
A
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4841C>T
c.4841C>T
 p.Ala1614Val
p.Ala1614Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4978/18335 4841/17388 1614/5795 chr14 104950610
chr14:104950613 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4838C>T
c.4838C>T
 p.Thr1613Ile
p.Thr1613Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4975/18335 4838/17388 1613/5795 chr14 104950613
chr14:104950613 G
G
 C
C
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4838C>G
c.4838C>G
 p.Thr1613Arg
p.Thr1613Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4975/18335 4838/17388 1613/5795 chr14 104950613
chr14:104950618 T
T
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4833A>C
c.4833A>C
 p.Glu1611Asp
p.Glu1611Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4970/18335 4833/17388 1611/5795 chr14 104950618
chr14:104950622 A
A
 G
G
 91 a0001
a0004
a0006
others(88): Show 
a0001
a0004
a0006
a0009
a0010
a0016
a0017
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0030
a0031
a0032
a0034
a0052
a0053
a0055
a0056
a0057
a0058
a0059
a0060
a0062
a0065
a0066
a0067
a0068
a0070
a0071
a0072
a0073
a0076
a0077
a0078
a0079
a0082
a0083
a0084
a0085
a0086
a0087
a0088
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0105
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0122
a0123
a0126
a0127
a0128
a0130
a0131
a0132
a0133
a0195
a0196
a0197
a0203
a0204
a0205
a0207
a0211
 154 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(151): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4829T>C
c.4829T>C
 p.Val1610Ala
p.Val1610Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4966/18335 4829/17388 1610/5795 chr14 104950622
chr14:104950623 C
C
 T
T
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4828G>A
c.4828G>A
 p.Val1610Met
p.Val1610Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4965/18335 4828/17388 1610/5795 chr14 104950623
chr14:104950628 G
G
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4823C>A
c.4823C>A
 p.Pro1608His
p.Pro1608His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4960/18335 4823/17388 1608/5795 chr14 104950628
chr14:104950631 C
C
 T
T
 8 a0061
a0064
a0069
others(5): Show 
a0061
a0064
a0069
a0074
a0075
a0080
a0081
a0089
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4820G>A
c.4820G>A
 p.Gly1607Asp
p.Gly1607Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4957/18335 4820/17388 1607/5795 chr14 104950631
chr14:104950634 T
T
 G
G
 14 a0006
a0010
a0019
others(11): Show 
a0006
a0010
a0019
a0066
a0087
a0088
a0090
a0091
a0092
a0093
a0094
a0095
a0097
a0211
 26 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(23): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG02040.hp2
HG02083.hp1
HG02273.hp1
HG03834.hp2
NA18941.hp2
NA18945.hp2
NA18952.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18984.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19058.hp2
NA19065.hp1
 missense_variant MODERATE c.4817A>C
c.4817A>C
 p.Lys1606Thr
p.Lys1606Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4954/18335 4817/17388 1606/5795 chr14 104950634
chr14:104950644 G
G
 C
C
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.4807C>G
c.4807C>G
 p.Leu1603Val
p.Leu1603Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4944/18335 4807/17388 1603/5795 chr14 104950644
chr14:104950645 C
C
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.4806G>C
c.4806G>C
 p.Lys1602Asn
p.Lys1602Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4943/18335 4806/17388 1602/5795 chr14 104950645
chr14:104950655 T
T
 C
C
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4796A>G
c.4796A>G
 p.Lys1599Arg
p.Lys1599Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4933/18335 4796/17388 1599/5795 chr14 104950655
chr14:104950659 C
C
 T
T
 8 a0061
a0064
a0069
others(5): Show 
a0061
a0064
a0069
a0074
a0075
a0080
a0081
a0089
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4792G>A
c.4792G>A
 p.Val1598Ile
p.Val1598Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4929/18335 4792/17388 1598/5795 chr14 104950659
chr14:104950660 A
A
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4791T>A
c.4791T>A
 p.Asp1597Glu
p.Asp1597Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4928/18335 4791/17388 1597/5795 chr14 104950660
chr14:104950663 T
T
 C
C
 3 a0020
a0064
a0086
a0020
a0064
a0086
 5 HG02056.hp1
HG03130.hp1
HG03942.hp1
others(2): Show 
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4788A>G
c.4788A>G
 p.Ile1596Met
p.Ile1596Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4925/18335 4788/17388 1596/5795 chr14 104950663
chr14:104950665 T
T
 C
C
 3 a0020
a0064
a0086
a0020
a0064
a0086
 5 HG02056.hp1
HG03130.hp1
HG03942.hp1
others(2): Show 
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4786A>G
c.4786A>G
 p.Ile1596Val
p.Ile1596Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4923/18335 4786/17388 1596/5795 chr14 104950665
chr14:104950668 G
G
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4783C>G
c.4783C>G
 p.Gln1595Glu
p.Gln1595Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4920/18335 4783/17388 1595/5795 chr14 104950668
chr14:104950686 C
C
 CTTCAGGC
others(488): Show 
CTTCAGGCATCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTG
AGGCCGGCTCCCTCGGGAACGTGGCCCTCTGGGAGTTTCACATCCACCTG
GCCAGCCTGGACCTCCAGTTGGGCAGAGGGGGGCTGAATGCTGATGTCAG
TGGTCTTAAGGTCCCCTTGCATGGAGGGGAGGCTCATGTCGGCTTCCACC
TTCAGCTCAGACACATCCACCAACGCCTCGATAGACTCGCCTGGGGCCGA
CACCCTGAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTATCTT
TGGCTGTCACACCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCGCGCA
CCATCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAG
AGACATCTCCACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGT
CCAGCTTGGGGCCCTTGACATCTAGCTGGGGGCCCTTGAGGTCCAT
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 conservative_inframe_insertion MODERATE c.4764_4765insATGGAC
others(489): Show 
c.4764_4765insATGGACCTCAAGGGCCCCCAGCTAGATGTCAAGGGC
CCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCCGATGT
GGAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAGCAA
AGCTGGATGGTGCGCGGCTGGAGGGGGACCTGTCCCTGGCCGACAAGGGT
GTGACAGCCAAAGATAGCAAGTTCAAAATGCCCAAGTTCAAGATGCCATC
ATTCAGGGTGTCGGCCCCAGGCGAGTCTATCGAGGCGTTGGTGGATGTGT
CTGAGCTGAAGGTGGAAGCCGACATGAGCCTCCCCTCCATGCAAGGGGAC
CTTAAGACCACTGACATCAGCATTCAGCCCCCCTCTGCCCAACTGGAGGT
CCAGGCTGGCCAGGTGGATGTGAAACTCCCAGAGGGCCACGTTCCCGAGG
GAGCCGGCCTCAAAGGGCACCTGCCCAAGCTGCAGATGCCCAGTTTCAAG
ATGCCTGAA
 p.Lys1588_Val1589ins
others(495): Show 
p.Lys1588_Val1589insMetAspLeuLysGlyProGlnLeuAspVal
LysGlyProLysLeuAspLeuLysGlyProLysAlaGluValThrAlaPr
oAspValGluMetSerLeuSerSerMetGluValAspValGlnAlaProA
rgAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAlaAsp
LysGlyValThrAlaLysAspSerLysPheLysMetProLysPheLysMe
tProSerPheArgValSerAlaProGlyGluSerIleGluAlaLeuValA
spValSerGluLeuLysValGluAlaAspMetSerLeuProSerMetGln
GlyAspLeuLysThrThrAspIleSerIleGlnProProSerAlaGlnLe
uGluValGlnAlaGlyGlnValAspValLysLeuProGluGlyHisValP
roGluGlyAlaGlyLeuLysGlyHisLeuProLysLeuGlnMetProSer
PheLysMetProGlu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4901/18335 4764/17388 1588/5795 chr14 104950686
chr14:104950689 T
T
 C
C
 2 a0114
a0140
a0114
a0140
 2 HG03688.hp1
NA18950.hp1
HG03688.hp1
NA18950.hp1
 missense_variant MODERATE c.4762A>G
c.4762A>G
 p.Lys1588Glu
p.Lys1588Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4899/18335 4762/17388 1588/5795 chr14 104950689
chr14:104950695 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4756A>G
c.4756A>G
 p.Met1586Val
p.Met1586Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4893/18335 4756/17388 1586/5795 chr14 104950695
chr14:104950699 G
G
 C
C
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4752C>G
c.4752C>G
 p.Phe1584Leu
p.Phe1584Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4889/18335 4752/17388 1584/5795 chr14 104950699
chr14:104950716 C
C
 G
G
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0133
 8 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4735G>C
c.4735G>C
 p.Val1579Leu
p.Val1579Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4872/18335 4735/17388 1579/5795 chr14 104950716
chr14:104950737 G
G
 A
A
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4714C>T
c.4714C>T
 p.Leu1572Phe
p.Leu1572Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4851/18335 4714/17388 1572/5795 chr14 104950737
chr14:104950749 C
C
 T
T
 1 a0042
a0042
 2 HG02056.hp2
NA18941.hp1
HG02056.hp2
NA18941.hp1
 missense_variant MODERATE c.4702G>A
c.4702G>A
 p.Glu1568Lys
p.Glu1568Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4839/18335 4702/17388 1568/5795 chr14 104950749
chr14:104950752 A
A
 G
G
 11 a0020
a0061
a0069
others(8): Show 
a0020
a0061
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
a0133
 13 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(10): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4699T>C
c.4699T>C
 p.Ser1567Pro
p.Ser1567Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4836/18335 4699/17388 1567/5795 chr14 104950752
chr14:104950757 G
G
 T
T
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4694C>A
c.4694C>A
 p.Pro1565His
p.Pro1565His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4831/18335 4694/17388 1565/5795 chr14 104950757
chr14:104950766 G
G
 A
A
 29 a0001
a0011
a0020
others(26): Show 
a0001
a0011
a0020
a0021
a0022
a0025
a0029
a0030
a0031
a0052
a0065
a0086
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
 64 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(61): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02056.hp1
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA18954.hp1
NA19002.hp1
NA19004.hp2
NA19012.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.4685C>T
c.4685C>T
 p.Pro1562Leu
p.Pro1562Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4822/18335 4685/17388 1562/5795 chr14 104950766
chr14:104950782 C
C
 A
A
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4669G>T
c.4669G>T
 p.Val1557Leu
p.Val1557Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4806/18335 4669/17388 1557/5795 chr14 104950782
chr14:104950792 C
C
 G
G
 2 a0020
a0086
a0020
a0086
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4659G>C
c.4659G>C
 p.Gln1553His
p.Gln1553His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4796/18335 4659/17388 1553/5795 chr14 104950792
chr14:104950797 C
C
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4654G>C
c.4654G>C
 p.Val1552Leu
p.Val1552Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4791/18335 4654/17388 1552/5795 chr14 104950797
chr14:104950809 C
C
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4642G>A
c.4642G>A
 p.Ala1548Thr
p.Ala1548Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4779/18335 4642/17388 1548/5795 chr14 104950809
chr14:104950824 T
T
 C
C
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4627A>G
c.4627A>G
 p.Ile1543Val
p.Ile1543Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4764/18335 4627/17388 1543/5795 chr14 104950824
chr14:104950828 CAGGTCAG
others(1973): Show 
CAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGG
CCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCT
GGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTT
GCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCA
GCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACG
CTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTC
TTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGT
CCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCT
TTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAA
TTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGT
CAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCC
ACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGC
AGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGT
CTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGT
GCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGG
CAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCA
GGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACT
TTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAA
GCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGC
CAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTG
GTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTT
GGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACG
CCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTG
GCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACT
GTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAG
ACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCC
AGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGG
CATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAG
CTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCC
TGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTT
CAGGTCCCCCTGCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTG
CAGACACATCCACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCG
AACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGT
CACGTCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCA
GCTTGGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACC
TCGCCATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTT
GGGGCCCTTAACATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCT
TGAAACTGGGCATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCC
TCGGGCACAGGGCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGAC
CTCCAGGTCAGCGGAAGGGGGCTGAATGCTG
 C
C
 1 a0065
a0065
 1 HG03942.hp2
HG03942.hp2
 disruptive_inframe_deletion MODERATE c.2643_4622del
c.2643_4622del
 p.Ser882_Leu1541del
p.Ser882_Leu1541del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4759/18335 2643/17388 881/5795 chr14 104950828
chr14:104950839 C
C
 CCTTGAGG
others(488): Show 
CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC
GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCCGACAC
CCCAAATGATGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG
CAGTCACCGCCTTGTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCA
TCCAGCTTTGCTCTCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGA
CATCTTCACATCGGGGGCTGTCACTTCCACCTTGGGGCCTTTCAGGTCCA
GCTTGGGGCCCTTAACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGC
ATCTTGAAACTGGGCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGC
TCCCTCGGACACAGGGCCCTCTGGGAGTTTCACGTCCACTTGGCCAGCCT
GGACCTCCAGGTCAGCAGAAGGGGGCTGTATGCTCAGGTCAGTGGT
 1 a0158
a0158
 1 NA19076.hp2
NA19076.hp2
 conservative_inframe_insertion MODERATE c.4611_4612insACCACT
others(489): Show 
c.4611_4612insACCACTGACCTGAGCATACAGCCCCCTTCTGCTGAC
CTGGAGGTCCAGGCTGGCCAAGTGGACGTGAAACTCCCAGAGGGCCCTGT
GTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAAGTGCAGATGCCCA
GTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCAGATAGATGTTAAG
GGCCCCAAGCTGGACCTGAAAGGCCCCAAGGTGGAAGTGACAGCCCCCGA
TGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTCCAGGCCCCGAGAG
CAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTCCCTGGCCGACAAG
GCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAGTTCAAGATGCC
ATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAGGCCTCAGTGGATG
TGTCTGCGCCGAAGGTGGAGGCCGACGTGAGCCTCCCCTCCATGCAGGGG
GACCTCAAG
 p.Lys1537_Ala1538ins
others(495): Show 
p.Lys1537_Ala1538insThrThrAspLeuSerIleGlnProProSer
AlaAspLeuGluValGlnAlaGlyGlnValAspValLysLeuProGluGl
yProValSerGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnM
etProSerPheLysMetProLysValAspLeuLysGlyProGlnIleAsp
ValLysGlyProLysLeuAspLeuLysGlyProLysValGluValThrAl
aProAspValLysMetSerLeuSerSerMetGluValAspValGlnAlaP
roArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAspLeuSerLeuAla
AspLysAlaValThrAlaLysAspSerLysPheLysMetProLysPheLy
sMetProSerPheGlyValSerAlaProGlyLysSerIleGluAlaSerV
alAspValSerAlaProLysValGluAlaAspValSerLeuProSerMet
GlnGlyAspLeuLys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4748/18335 4611/17388 1537/5795 chr14 104950839
chr14:104950839 C
C
 T
T
 11 a0020
a0061
a0069
others(8): Show 
a0020
a0061
a0069
a0074
a0075
a0080
a0081
a0083
a0086
a0089
a0133
 13 HG01167.hp2
HG01884.hp1
HG02055.hp2
others(10): Show 
HG01167.hp2
HG01884.hp1
HG02055.hp2
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4612G>A
c.4612G>A
 p.Ala1538Thr
p.Ala1538Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4749/18335 4612/17388 1538/5795 chr14 104950839
chr14:104950839 CCTTGAGG
others(2447): Show 
CCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTC
GGCGCAGACACATCCACTGAGGCCTCGATGGACTTGCCTGGGGCAGACAC
CCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGG
TAGTCAAGTCCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCA
TCCAGCTTGGCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGA
AACCTCCACATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCA
GCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGC
ACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGC
TCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCT
GGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTG
AGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGC
AGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGA
ACGACGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTC
ACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAA
CTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAG
CCACTTCGTGGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTG
GGGCCCCTGACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTT
CAAACTAGGCATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCT
CAGGCACGTGGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACC
TCCAGGTCAGCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTC
CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA
CATCCACCGAGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT
GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC
CTTGTCGGCCAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGG
CTCCCGGGGCCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACA
TCAGGGGCTGTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCC
CTTGACGTCCACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAAAC
TGGGCATCTCCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGC
AGGTGGCCCTCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTCAG
GTCAGTAGAAGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCT
GCATGGAGGGGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACATCC
ACCAAGGCCTTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGCAT
CTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGT
CGGCCAGGGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCTTC
TGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACACCTCGCCATCGGG
GGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAA
CATCTATCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGC
ATCTCCACTTTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCACAGG
GCCCTCCGGAAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGGTCAG
CGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATG
GAGGAGAGGCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGA
GTCCTCCATGGACTTGCCTGGGGCCGACACCCCGAATGATGGCATCTTGA
ACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTCGGCC
AGGGACAGGTCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGC
CTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTG
TCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGAGGTCC
ACTTTGGGCATCTTCAAACTGGGCCTCTGCACCTTGGGCAGGTGCCCTTT
GAGGCTGGCTCCCTCGGGCAGGGGGCCCTCCGGAAGTTTCACATCCACTT
GGCCATCCTGGACCTCCAGGTCAGCGGAAGGGGTCTGGACGCTGAGGTCA
GTGGT
 C
C
 1 a0055
a0055
 1 HG02109.hp1
HG02109.hp1
 conservative_inframe_deletion MODERATE c.2158_4611del
c.2158_4611del
 p.Thr720_Lys1537del
p.Thr720_Lys1537del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4748/18335 2158/17388 720/5795 chr14 104950839
chr14:104950863 G
G
 A
A
 5 a0095
a0103
a0114
others(2): Show 
a0095
a0103
a0114
a0130
a0196
 5 HG02486.hp2
HG02976.hp2
HG03688.hp1
others(2): Show 
HG02486.hp2
HG02976.hp2
HG03688.hp1
NA19005.hp1
NA20300.hp2
 missense_variant MODERATE c.4588C>T
c.4588C>T
 p.Pro1530Ser
p.Pro1530Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4725/18335 4588/17388 1530/5795 chr14 104950863
chr14:104950867 GCTCACGT
others(983): Show 
GCTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGA
TGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGC
ATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACAT
GTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACAT
CCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCC
ACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGG
GCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGG
GCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGT
TTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTG
AATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCA
TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC
TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT
GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC
CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC
TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT
ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT
TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG
TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC
GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC
TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGA
 G
G
 22 a0001
a0021
a0022
others(19): Show 
a0001
a0021
a0022
a0025
a0030
a0031
a0052
a0105
a0108
a0109
a0110
a0112
a0113
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
 50 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(47): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
NA18940.hp2
NA19043.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 disruptive_inframe_deletion MODERATE c.3594_4583del
c.3594_4583del
 p.Leu1199_Ser1528del
p.Leu1199_Ser1528del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4720/18335 3594/17388 1198/5795 chr14 104950867
chr14:104950871 A
A
 C
C
 4 a0024
a0114
a0139
others(1): Show 
a0024
a0114
a0139
a0190
 6 HG02165.hp1
HG03688.hp1
NA18980.hp1
others(3): Show 
HG02165.hp1
HG03688.hp1
NA18980.hp1
NA19000.hp1
NA19007.hp1
NA19011.hp2
 missense_variant MODERATE c.4580T>G
c.4580T>G
 p.Val1527Gly
p.Val1527Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4717/18335 4580/17388 1527/5795 chr14 104950871
chr14:104950872 C
C
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4579G>A
c.4579G>A
 p.Val1527Met
p.Val1527Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4716/18335 4579/17388 1527/5795 chr14 104950872
chr14:104950872 CGTCGGCC
others(488): Show 
CGTCGGCCTCCACCTTCGGCGCAGACACATCCACTGAGGCCTCGATGGAC
TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT
GAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGACATGTCCT
CCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGACATCCACC
TCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTTCCACCTT
GGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCT
TGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGG
TGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCAC
GTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGC
TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCAT
 C
C
 1 a0163
a0163
 1 HG03453.hp2
HG03453.hp2
 conservative_inframe_deletion MODERATE c.4084_4578del
c.4084_4578del
 p.Met1362_Asp1526del
p.Met1362_Asp1526del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4715/18335 4084/17388 1362/5795 chr14 104950872
chr14:104950883 A
A
 G
G
 2 a0137
a0138
a0137
a0138
 2 HG02647.hp1
HG02809.hp1
HG02647.hp1
HG02809.hp1
 missense_variant MODERATE c.4568T>C
c.4568T>C
 p.Val1523Ala
p.Val1523Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4705/18335 4568/17388 1523/5795 chr14 104950883
chr14:104950889 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4562C>T
c.4562C>T
 p.Pro1521Leu
p.Pro1521Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4699/18335 4562/17388 1521/5795 chr14 104950889
chr14:104950890 G
G
 A
A
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4561C>T
c.4561C>T
 p.Pro1521Ser
p.Pro1521Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4698/18335 4561/17388 1521/5795 chr14 104950890
chr14:104950896 A
A
 G
G
 1 a0064
a0064
 1 HG03130.hp1
HG03130.hp1
 missense_variant MODERATE c.4555T>C
c.4555T>C
 p.Ser1519Pro
p.Ser1519Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4692/18335 4555/17388 1519/5795 chr14 104950896
chr14:104950896 A
A
 T
T
 2 a0044
a0169
a0044
a0169
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 missense_variant MODERATE c.4555T>A
c.4555T>A
 p.Ser1519Thr
p.Ser1519Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4692/18335 4555/17388 1519/5795 chr14 104950896
chr14:104950899 C
C
 G
G
 12 a0026
a0061
a0069
others(9): Show 
a0026
a0061
a0069
a0071
a0072
a0073
a0074
a0075
a0080
a0081
a0085
a0089
 13 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(10): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4552G>C
c.4552G>C
 p.Val1518Leu
p.Val1518Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4689/18335 4552/17388 1518/5795 chr14 104950899
chr14:104950904 A
A
 G
G
 1 a0133
a0133
 1 HG02630.hp2
HG02630.hp2
 missense_variant MODERATE c.4547T>C
c.4547T>C
 p.Val1516Ala
p.Val1516Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4684/18335 4547/17388 1516/5795 chr14 104950904
chr14:104950913 T
T
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.4538A>C
c.4538A>C
 p.Glu1513Ala
p.Glu1513Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4675/18335 4538/17388 1513/5795 chr14 104950913
chr14:104950914 C
C
 G
G
 10 a0045
a0063
a0159
others(7): Show 
a0045
a0063
a0159
a0160
a0161
a0162
a0201
a0208
a0209
a0210
 11 HG02572.hp2
HG02615.hp2
HG02622.hp2
others(8): Show 
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02647.hp2
HG03041.hp1
HG03130.hp2
HG03139.hp1
HG03471.hp2
HG03516.hp2
HG06807.hp1
NA18906.hp1
 missense_variant MODERATE c.4537G>C
c.4537G>C
 p.Glu1513Gln
p.Glu1513Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4674/18335 4537/17388 1513/5795 chr14 104950914
chr14:104950915 G
G
 C
C
 1 a0067
a0067
 1 NA19030.hp1
NA19030.hp1
 missense_variant MODERATE c.4536C>G
c.4536C>G
 p.Ile1512Met
p.Ile1512Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4673/18335 4536/17388 1512/5795 chr14 104950915
chr14:104950915 GATGGACT
others(488): Show 
GATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGG
GCATTTTGAACTTGCTGTCTTTGGTAGTCAAGTCCTTGTCGGCCAGGGAC
ATGTCCTCCTCCAGCCGTCCACCATCCAGCTTGGCTCCTGGGGCCTCGAC
ATCCACCTCCACGCTGGGCAGAGAAACCTCCACATCAGGGGCTGTCACTT
CCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCA
GGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTT
GGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGA
GTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGC
TGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCT
CATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCA
 G
G
 1 a0169
a0169
 1 HG03225.hp2
HG03225.hp2
 disruptive_inframe_deletion MODERATE c.4041_4535del
c.4041_4535del
 p.Glu1348_Ile1512del
p.Glu1348_Ile1512del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4672/18335 4041/17388 1347/5795 chr14 104950915
chr14:104950925 C
C
 A
A
 1 a0101
a0101
 1 HG00639.hp1
HG00639.hp1
 missense_variant MODERATE c.4526G>T
c.4526G>T
 p.Gly1509Val
p.Gly1509Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4663/18335 4526/17388 1509/5795 chr14 104950925
chr14:104950934 G
G
 A
A
 10 a0026
a0061
a0069
others(7): Show 
a0026
a0061
a0069
a0071
a0072
a0073
a0080
a0081
a0085
a0089
 11 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4517C>T
c.4517C>T
 p.Ser1506Phe
p.Ser1506Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4654/18335 4517/17388 1506/5795 chr14 104950934
chr14:104950937 A
A
 G
G
 3 a0086
a0136
a0203
a0086
a0136
a0203
 3 HG02451.hp2
HG03942.hp1
HG04184.hp2
HG02451.hp2
HG03942.hp1
HG04184.hp2
 missense_variant MODERATE c.4514T>C
c.4514T>C
 p.Val1505Ala
p.Val1505Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4651/18335 4514/17388 1505/5795 chr14 104950937
chr14:104950941 C
C
 T
T
 3 a0074
a0075
a0203
a0074
a0075
a0203
 3 HG02451.hp2
HG02717.hp2
NA20129.hp2
HG02451.hp2
HG02717.hp2
NA20129.hp2
 missense_variant MODERATE c.4510G>A
c.4510G>A
 p.Gly1504Arg
p.Gly1504Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4647/18335 4510/17388 1504/5795 chr14 104950941
chr14:104950943 A
A
 T
T
 1 a0203
a0203
 1 HG02451.hp2
HG02451.hp2
 missense_variant MODERATE c.4508T>A
c.4508T>A
 p.Phe1503Tyr
p.Phe1503Tyr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4645/18335 4508/17388 1503/5795 chr14 104950943
chr14:104950948 CGGCATCT
others(983): Show 
CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGT
CCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTG
GCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCAC
ATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGC
CCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAA
CTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGG
CACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCA
GGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCC
TGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTC
CACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCA
TCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTG
TCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCC
CGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGT
GGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTG
ACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGG
CATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGT
GGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCA
GCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCAT
GGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCG
AGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGAT
 C
C
 5 a0011
a0029
a0030
others(2): Show 
a0011
a0029
a0030
a0107
a0111
 9 HG04228.hp2
NA18953.hp1
NA19002.hp1
others(6): Show 
HG04228.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20905.hp2
 disruptive_inframe_deletion MODERATE c.3513_4502del
c.3513_4502del
 p.Ser1172_Pro1501del
p.Ser1172_Pro1501del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4639/18335 3513/17388 1171/5795 chr14 104950948
chr14:104950948 CGGCATCT
others(2447): Show 
CGGCATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGTAGTCAAGT
CCTTGTCGGCCAGGGACATGTCCTCCTCCAGCCGTCCACCATCCAGCTTG
GCTCCTGGGGCCTCGACATCCACCTCCACGCTGGGCAGAGAAACCTCCAC
ATCAGGGGCTGTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGC
CCTTGATGTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAA
CTGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGG
CACGGGGCCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCA
GGTCAGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCC
TGCATGGAGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTC
CACGGAGGCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCA
TCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTG
TCAGCCAGGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCC
CGGGGCCTGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGT
GGGCCGTCACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTG
ACTTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTCAAACTAGG
CATCTGCACCTTGGGCAGGTGCCCTTTGAAGCCGGCTCCCTCAGGCACGT
GGCCCTCCAGGAGCTTCACGTCCACCTGGCCAGCGTGGACCTCCAGGTCA
GCGGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCAT
GGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCG
AGGCCTCGATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTG
AACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGC
CAGGGACAGTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGG
CCTCGACGTCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCT
GTGACTTCCGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTC
CACCTGGGGGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCT
CCACCTTGGGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCC
TCCGGGAGCTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGA
AGCAGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGG
GGAGACTCAGGTCGGCCTCCACCTTGGGTGCAGACACATCCACCAAGGCC
TTGATGGACTTCCCTGGGGCCGATACCCCGAACGACGGCATCTTGAACTT
GGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCGGCCAGGG
ACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGGCCTTCTGGGCCTGG
ACATCCACCTCCATGCTGGGCAGAGACACCTCGCCATCGGGGGCTGTCAC
TTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTAACATCTATCT
GGGGGCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACT
TTGGGCAGGTGCACTTTGGGGCCGGCTCCCTCGGGCACAGGGCCCTCCGG
AAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAGGTCAGCGGAAGGGG
GCTGAATGCTGAGGTCAGTGGCCTTGAGGTCCCCCTGCATGGAGGAGAGG
CTCACGTCGGCCTCCACCTTCGGCGCAGACACATCCACCGAGTCCTCCAT
GGACTTGCCTGGGGCCGACACCCCGAATGATGGCATCTTGAACTTGGGCA
TTTTGAACTTGCTGTCTTTGGCAGTCACCTCCTTGTCGGCCAGGGACAGG
TCCCCCTCCAGCCGCGCACCATCCAGCTTTGCTCTCGGGGCCTGGACGTC
CACCTCCATGCTGGACAGAGACATCTTCACATCGGGGGCTGTCACTTCCG
CCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTTGAGGTCCACTTTGGGC
ATCTTCAAACTGGGCCTCTGCACCTTGGGCAGGTGCCCTTTGAGGCTGGC
TCCCTCGGGCAGGGGGCCCTCCGGAAGTTTCACATCCACTTGGCCATCCT
GGACCTCCAGGTCAGCGGAAGGGGTCTGGACGCTGAGGTCAGTGGTCTTG
AGGTCCCCCTGCATGGAGAGGAGGCTCACGTCGGCCTCCACCTTCGGCGC
AGACACATCCACCGAGGCCTCCATGGACTTGCCTGGGGCTGACGCCCCGA
ACAAT
 C
C
 1 a0205
a0205
 1 HG00733.hp1
HG00733.hp1
 disruptive_inframe_deletion MODERATE c.2049_4502del
c.2049_4502del
 p.Leu684_Pro1501del
p.Leu684_Pro1501del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4639/18335 2049/17388 683/5795 chr14 104950948
chr14:104950949 G
G
 A
A
 11 a0032
a0034
a0036
others(8): Show 
a0032
a0034
a0036
a0102
a0103
a0126
a0127
a0131
a0132
a0133
a0195
 14 HG02258.hp2
HG02559.hp2
HG02615.hp1
others(11): Show 
HG02258.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp2
HG02723.hp1
HG02922.hp1
HG02976.hp1
HG03098.hp2
HG03209.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
NA20300.hp2
 missense_variant MODERATE c.4502C>T
c.4502C>T
 p.Pro1501Leu
p.Pro1501Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4639/18335 4502/17388 1501/5795 chr14 104950949
chr14:104950949 G
G
 GGCATCTT
others(488): Show 
GGCATCTTGAACTTGGGAATTTTGAACCTGCTGTCTTTGGTAGTCACATC
CTTGTCCGCCACAGACAGGTCCCCCTCCAGCCACGCACCATCCAGCTTGG
CTCCCGGGGCCTCGACATCCACCTCCACGCTGGGCTGAGACACCTCCACG
TCGGGGGCCATCACGTCCGTCTTGGGGCCTTTCAGGTCCAGCTTGGGGCC
CTTGACATCTATCTGGGGGCCCTTGAGATCTACTTTGGGCATCTTGAAAC
TGGGCATCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCCGGC
ACGGGGCCCTCTGAGAGTTTCACATCCACTTGGCCAGCCTGGACCTCCAG
GTCAGCGGAAGGGGGCTGAACGCTGAGGTCAGTGGTCTTGAGGTCCCCCT
GCATGGAGGGGAGGCTCACGTCGGCCTCCACCTTCAACGCAGACACATCC
GCTGAGGCCTCGATGGACTTGCCAGGGGCAGACACCCCAAACGAGA
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 conservative_inframe_insertion MODERATE c.4501_4502insTCTCGT
others(489): Show 
c.4501_4502insTCTCGTTTGGGGTGTCTGCCCCTGGCAAGTCCATCG
AGGCCTCAGCGGATGTGTCTGCGTTGAAGGTGGAGGCCGACGTGAGCCTC
CCCTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCGTTCAGCCCCC
TTCCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGGATGTGAAACTCTCAG
AGGGCCCCGTGCCGGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGCTG
CAGATGCCCAGTTTCAAGATGCCCAAAGTAGATCTCAAGGGCCCCCAGAT
AGATGTCAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGACGGACGTGA
TGGCCCCCGACGTGGAGGTGTCTCAGCCCAGCGTGGAGGTGGATGTCGAG
GCCCCGGGAGCCAAGCTGGATGGTGCGTGGCTGGAGGGGGACCTGTCTGT
GGCGGACAAGGATGTGACTACCAAAGACAGCAGGTTCAAAATTCCCAAGT
TCAAGATGC
 p.Met1500_Pro1501ins
others(495): Show 
p.Met1500_Pro1501insLeuSerPheGlyValSerAlaProGlyLys
SerIleGluAlaSerAlaAspValSerAlaLeuLysValGluAlaAspVa
lSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerValG
lnProProSerAlaAspLeuGluValGlnAlaGlyGlnValAspValLys
LeuSerGluGlyProValProGluGlyAlaGlyLeuLysGlyHisLeuPr
oLysLeuGlnMetProSerPheLysMetProLysValAspLeuLysGlyP
roGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysThr
AspValMetAlaProAspValGluValSerGlnProSerValGluValAs
pValGluAlaProGlyAlaLysLeuAspGlyAlaTrpLeuGluGlyAspL
euSerValAlaAspLysAspValThrThrLysAspSerArgPheLysIle
ProLysPheLysMet
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4638/18335 4501/17388 1501/5795 chr14 104950949
chr14:104950966 C
C
 A
A
 3 a0068
a0186
a0187
a0068
a0186
a0187
 3 HG02630.hp1
NA18961.hp2
NA19012.hp1
HG02630.hp1
NA18961.hp2
NA19012.hp1
 missense_variant MODERATE c.4485G>T
c.4485G>T
 p.Met1495Ile
p.Met1495Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4622/18335 4485/17388 1495/5795 chr14 104950966
chr14:104950976 T
T
 C
C
 8 a0020
a0064
a0066
others(5): Show 
a0020
a0064
a0066
a0068
a0086
a0098
a0186
a0187
 10 HG00609.hp1
HG02056.hp1
HG02630.hp1
others(7): Show 
HG00609.hp1
HG02056.hp1
HG02630.hp1
HG02809.hp2
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA18961.hp2
NA19012.hp1
NA19012.hp2
 missense_variant MODERATE c.4475A>G
c.4475A>G
 p.Lys1492Arg
p.Lys1492Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4612/18335 4475/17388 1492/5795 chr14 104950976
chr14:104950989 T
T
 C
C
 14 a0020
a0061
a0064
others(11): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
a0133
 16 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4462A>G
c.4462A>G
 p.Thr1488Ala
p.Thr1488Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4599/18335 4462/17388 1488/5795 chr14 104950989
chr14:104950995 A
A
 C
C
 14 a0020
a0061
a0064
others(11): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
a0133
 16 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4456T>G
c.4456T>G
 p.Leu1486Val
p.Leu1486Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4593/18335 4456/17388 1486/5795 chr14 104950995
chr14:104951016 T
T
 G
G
 14 a0020
a0061
a0064
others(11): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0102
a0103
 16 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02976.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 missense_variant MODERATE c.4435A>C
c.4435A>C
 p.Met1479Leu
p.Met1479Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4572/18335 4435/17388 1479/5795 chr14 104951016
chr14:104951021 T
T
 C
C
 16 a0020
a0061
a0064
others(13): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0102
a0103
a0114
a0133
 18 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG02976.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
 missense_variant MODERATE c.4430A>G
c.4430A>G
 p.Glu1477Gly
p.Glu1477Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4567/18335 4430/17388 1477/5795 chr14 104951021
chr14:104951023 C
C
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4428G>C
c.4428G>C
 p.Glu1476Asp
p.Glu1476Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4565/18335 4428/17388 1476/5795 chr14 104951023
chr14:104951030 C
C
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4421G>A
c.4421G>A
 p.Arg1474Gln
p.Arg1474Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4558/18335 4421/17388 1474/5795 chr14 104951030
chr14:104951033 C
C
 A
A
 1 a0060
a0060
 1 HG04228.hp1
HG04228.hp1
 missense_variant MODERATE c.4418G>T
c.4418G>T
 p.Gly1473Val
p.Gly1473Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4555/18335 4418/17388 1473/5795 chr14 104951033
chr14:104951033 C
C
 G
G
 16 a0020
a0061
a0064
others(13): Show 
a0020
a0061
a0064
a0066
a0067
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
a0133
a0170
 18 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02273.hp2
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA19030.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4418G>C
c.4418G>C
 p.Gly1473Ala
p.Gly1473Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4555/18335 4418/17388 1473/5795 chr14 104951033
chr14:104951037 C
C
 T
T
 6 a0020
a0060
a0064
others(3): Show 
a0020
a0060
a0064
a0066
a0068
a0086
 8 HG00609.hp1
HG02056.hp1
HG02630.hp1
others(5): Show 
HG00609.hp1
HG02056.hp1
HG02630.hp1
HG03130.hp1
HG03942.hp1
HG04228.hp1
NA18954.hp1
NA19012.hp2
 missense_variant MODERATE c.4414G>A
c.4414G>A
 p.Gly1472Ser
p.Gly1472Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4551/18335 4414/17388 1472/5795 chr14 104951037
chr14:104951059 C
C
 G
G
 6 a0004
a0016
a0056
others(3): Show 
a0004
a0016
a0056
a0057
a0058
a0059
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.4392G>C
c.4392G>C
 p.Glu1464Asp
p.Glu1464Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4529/18335 4392/17388 1464/5795 chr14 104951059
chr14:104951061 C
C
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4390G>C
c.4390G>C
 p.Glu1464Gln
p.Glu1464Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4527/18335 4390/17388 1464/5795 chr14 104951061
chr14:104951061 C
C
 T
T
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4390G>A
c.4390G>A
 p.Glu1464Lys
p.Glu1464Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4527/18335 4390/17388 1464/5795 chr14 104951061
chr14:104951064 C
C
 T
T
 12 a0020
a0061
a0064
others(9): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 14 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(11): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4387G>A
c.4387G>A
 p.Val1463Ile
p.Val1463Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4524/18335 4387/17388 1463/5795 chr14 104951064
chr14:104951076 C
C
 T
T
 1 a0035
a0035
 2 HG02027.hp1
NA18981.hp2
HG02027.hp1
NA18981.hp2
 missense_variant MODERATE c.4375G>A
c.4375G>A
 p.Val1459Met
p.Val1459Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4512/18335 4375/17388 1459/5795 chr14 104951076
chr14:104951092 C
C
 A
A
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4359G>T
c.4359G>T
 p.Glu1453Asp
p.Glu1453Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4496/18335 4359/17388 1453/5795 chr14 104951092
chr14:104951093 T
T
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4358A>C
c.4358A>C
 p.Glu1453Ala
p.Glu1453Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4495/18335 4358/17388 1453/5795 chr14 104951093
chr14:104951098 A
A
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4353T>A
c.4353T>A
 p.Asp1451Glu
p.Asp1451Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4490/18335 4353/17388 1451/5795 chr14 104951098
chr14:104951102 G
G
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4349C>A
c.4349C>A
 p.Pro1450His
p.Pro1450His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4486/18335 4349/17388 1450/5795 chr14 104951102
chr14:104951117 A
A
 G
G
 12 a0020
a0061
a0064
others(9): Show 
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 14 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(11): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4334T>C
c.4334T>C
 p.Val1445Ala
p.Val1445Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4471/18335 4334/17388 1445/5795 chr14 104951117
chr14:104951123 G
G
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4328C>A
c.4328C>A
 p.Pro1443His
p.Pro1443His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4465/18335 4328/17388 1443/5795 chr14 104951123
chr14:104951125 GTCTTTTA
others(488): Show 
GTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCTATTTCAGGGCCCTTGA
GGTCCACTTTGGGCACCTTGAAACTGGGCATCTGCAGCTTGGGCAGGTGC
CCTTTGAGGCCGGCTCCCTCGGGCACGGGGCCCTCTGGGAGTTTCACGTC
CAATTGGCCAGCCTGGAGCTCCAGGTCAGTGGAAGGGGGCTGAATGCTGA
GGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGGCTCATGTCGGCC
TCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGACTTGCCTGG
GGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTTGAACTTGC
TGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCCCGTCCAGC
TGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACCTCCACACT
GGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTTATGA
 G
G
 4 a0020
a0064
a0066
others(1): Show 
a0020
a0064
a0066
a0086
 6 HG00609.hp1
HG02056.hp1
HG03130.hp1
others(3): Show 
HG00609.hp1
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 disruptive_inframe_deletion MODERATE c.3831_4325del
c.3831_4325del
 p.His1278_Asp1442del
p.His1278_Asp1442del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4462/18335 3831/17388 1277/5795 chr14 104951125
chr14:104951126 T
T
 C
C
 8 a0061
a0068
a0069
others(5): Show 
a0061
a0068
a0069
a0074
a0075
a0080
a0081
a0089
 8 HG01167.hp2
HG01884.hp1
HG02630.hp1
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4325A>G
c.4325A>G
 p.Asp1442Gly
p.Asp1442Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4462/18335 4325/17388 1442/5795 chr14 104951126
chr14:104951127 C
C
 T
T
 1 a0068
a0068
 1 HG02630.hp1
HG02630.hp1
 missense_variant MODERATE c.4324G>A
c.4324G>A
 p.Asp1442Asn
p.Asp1442Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4461/18335 4324/17388 1442/5795 chr14 104951127
chr14:104951150 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4301A>G
c.4301A>G
 p.Lys1434Arg
p.Lys1434Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4438/18335 4301/17388 1434/5795 chr14 104951150
chr14:104951154 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4297A>G
c.4297A>G
 p.Ile1433Val
p.Ile1433Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4434/18335 4297/17388 1433/5795 chr14 104951154
chr14:104951155 G
G
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4296C>A
c.4296C>A
 p.Asp1432Glu
p.Asp1432Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4433/18335 4296/17388 1432/5795 chr14 104951155
chr14:104951155 GTCTATTT
others(488): Show 
GTCTATTTCAGGGCCCTTGAGGTCCACTTTGGGCACCTTGAAACTGGGCA
TCTGCAGCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGCACGGGG
CCCTCTGGGAGTTTCACGTCCAATTGGCCAGCCTGGAGCTCCAGGTCAGT
GGAAGGGGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGG
AGGGGAGGCTCATGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAG
GCCTCAATGGACTTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAA
CTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCA
GGGACAGGTCCCCGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCC
TGCATGTCCACCTCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGT
CACCTCTGCCTTATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACT
 G
G
 1 a0068
a0068
 1 HG02630.hp1
HG02630.hp1
 disruptive_inframe_deletion MODERATE c.3801_4295del
c.3801_4295del
 p.Glu1267_Ile1431del
p.Glu1267_Ile1431del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4432/18335 3801/17388 1267/5795 chr14 104951155
chr14:104951158 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4293A>G
c.4293A>G
 p.Ile1431Met
p.Ile1431Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4430/18335 4293/17388 1431/5795 chr14 104951158
chr14:104951160 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4291A>G
c.4291A>G
 p.Ile1431Val
p.Ile1431Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4428/18335 4291/17388 1431/5795 chr14 104951160
chr14:104951163 C
C
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4288G>C
c.4288G>C
 p.Glu1430Gln
p.Glu1430Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4425/18335 4288/17388 1430/5795 chr14 104951163
chr14:104951166 G
G
 T
T
 12 a0032
a0034
a0102
others(9): Show 
a0032
a0034
a0102
a0103
a0125
a0126
a0127
a0128
a0131
a0132
a0195
a0203
 14 HG02258.hp2
HG02451.hp2
HG02559.hp2
others(11): Show 
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA20300.hp2
 missense_variant MODERATE c.4285C>A
c.4285C>A
 p.Pro1429Thr
p.Pro1429Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4422/18335 4285/17388 1429/5795 chr14 104951166
chr14:104951175 G
G
 T
T
 1 a0136
a0136
 1 HG04184.hp2
HG04184.hp2
 missense_variant MODERATE c.4276C>A
c.4276C>A
 p.Leu1426Ile
p.Leu1426Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4413/18335 4276/17388 1426/5795 chr14 104951175
chr14:104951177 T
T
 G
G
 1 a0125
a0125
 1 HG06807.hp2
HG06807.hp2
 missense_variant MODERATE c.4274A>C
c.4274A>C
 p.Asp1425Ala
p.Asp1425Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4411/18335 4274/17388 1425/5795 chr14 104951177
chr14:104951190 C
C
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4261G>A
c.4261G>A
 p.Val1421Met
p.Val1421Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4398/18335 4261/17388 1421/5795 chr14 104951190
chr14:104951194 G
G
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4257C>G
c.4257C>G
 p.Phe1419Leu
p.Phe1419Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4394/18335 4257/17388 1419/5795 chr14 104951194
chr14:104951211 G
G
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4240C>G
c.4240C>G
 p.Leu1414Val
p.Leu1414Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4377/18335 4240/17388 1414/5795 chr14 104951211
chr14:104951232 G
G
 A
A
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4219C>T
c.4219C>T
 p.Leu1407Phe
p.Leu1407Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4356/18335 4219/17388 1407/5795 chr14 104951232
chr14:104951237 G
G
 A
A
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4214C>T
c.4214C>T
 p.Ala1405Val
p.Ala1405Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4351/18335 4214/17388 1405/5795 chr14 104951237
chr14:104951240 C
C
 T
T
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4211G>A
c.4211G>A
 p.Gly1404Glu
p.Gly1404Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4348/18335 4211/17388 1404/5795 chr14 104951240
chr14:104951244 C
C
 T
T
 3 a0016
a0059
a0060
a0016
a0059
a0060
 5 HG01099.hp1
HG01168.hp2
HG02735.hp2
others(2): Show 
HG01099.hp1
HG01168.hp2
HG02735.hp2
HG03834.hp1
HG04228.hp1
 missense_variant MODERATE c.4207G>A
c.4207G>A
 p.Glu1403Lys
p.Glu1403Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4344/18335 4207/17388 1403/5795 chr14 104951244
chr14:104951252 G
G
 T
T
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4199C>A
c.4199C>A
 p.Pro1400His
p.Pro1400His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4336/18335 4199/17388 1400/5795 chr14 104951252
chr14:104951261 G
G
 A
A
 9 a0061
a0069
a0074
others(6): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4190C>T
c.4190C>T
 p.Pro1397Leu
p.Pro1397Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4327/18335 4190/17388 1397/5795 chr14 104951261
chr14:104951271 C
C
 T
T
 1 a0135
a0135
 1 HG02004.hp2
HG02004.hp2
 missense_variant MODERATE c.4180G>A
c.4180G>A
 p.Val1394Met
p.Val1394Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4317/18335 4180/17388 1394/5795 chr14 104951271
chr14:104951277 A
A
 C
C
 9 a0061
a0069
a0074
others(6): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4174T>G
c.4174T>G
 p.Leu1392Val
p.Leu1392Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4311/18335 4174/17388 1392/5795 chr14 104951277
chr14:104951287 C
C
 G
G
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4164G>C
c.4164G>C
 p.Gln1388His
p.Gln1388His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4301/18335 4164/17388 1388/5795 chr14 104951287
chr14:104951292 G
G
 C
C
 9 a0061
a0069
a0074
others(6): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
a0133
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4159C>G
c.4159C>G
 p.Leu1387Val
p.Leu1387Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4296/18335 4159/17388 1387/5795 chr14 104951292
chr14:104951295 C
C
 T
T
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4156G>A
c.4156G>A
 p.Glu1386Lys
p.Glu1386Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4293/18335 4156/17388 1386/5795 chr14 104951295
chr14:104951298 G
G
 C
C
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4153C>G
c.4153C>G
 p.Leu1385Val
p.Leu1385Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4290/18335 4153/17388 1385/5795 chr14 104951298
chr14:104951304 T
T
 C
C
 10 a0061
a0069
a0074
others(7): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
a0133
a0134
 10 HG01167.hp2
HG01192.hp2
HG01884.hp1
others(7): Show 
HG01167.hp2
HG01192.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4147A>G
c.4147A>G
 p.Thr1383Ala
p.Thr1383Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4284/18335 4147/17388 1383/5795 chr14 104951304
chr14:104951309 G
G
 A
A
 2 a0114
a0133
a0114
a0133
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 missense_variant MODERATE c.4142C>T
c.4142C>T
 p.Pro1381Leu
p.Pro1381Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4279/18335 4142/17388 1381/5795 chr14 104951309
chr14:104951367 T
T
 C
C
 9 a0061
a0069
a0074
others(6): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
a0204
 9 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG02723.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4084A>G
c.4084A>G
 p.Met1362Val
p.Met1362Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4221/18335 4084/17388 1362/5795 chr14 104951367
chr14:104951367 TGTCGGCC
others(983): Show 
TGTCGGCCTCCACCTTGGGTGCAGACAGGTCCACGGAGGCCTCAATGGAC
TTGCCTGGGGCAGACACCCCGAACGACGGCATCTTGAACTTGGGCATTTT
GAACTTGCTGTCTTTGGCAGTCACGTCCTTGTCAGCCAGGGACAGGTCCC
CGTCCAGCTGTGCGCCATCCAACTTGGCTCCCGGGGCCTGCATGTCCACC
TCCACACTGGGCAGAGACACAGCCACTTCGTGGGCCGTCACCTCTGCCTT
ATGACCTTTCAGGTCCAGCTTGGGGCCCCTGACTTCCACCTGGGGGCCCT
TGAGGTCCACTTTGGGCATCTTCAAACTAGGCATCTGCACCTTGGGCAGG
TGCCCTTTGAAGCCGGCTCCCTCAGGCACGTGGCCCTCCAGGAGCTTCAC
GTCCACCTGGCCAGCGTGGACCTCCAGGTCAGCGGAAGGGGGCTGAATGC
TGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGAGACTCACGTCG
GCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCGATGGACTTGCC
TGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGGCATTTTGAACC
TGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACAGTTCCCCCTCC
AGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACGTCCACCTCCAC
GCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTCCGCCTTGGGGC
TTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGGGGCCCTTGAGG
GCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAAGTGCCC
TTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCACATCCA
CCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCAGGCTGAATGCTGAGG
TCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGAGACTCAG
 T
T
 1 a0050
a0050
 2 HG01257.hp2
HG01258.hp1
HG01257.hp2
HG01258.hp1
 conservative_inframe_deletion MODERATE c.3094_4083del
c.3094_4083del
 p.Leu1032_Asp1361del
p.Leu1032_Asp1361del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4220/18335 3094/17388 1032/5795 chr14 104951367
chr14:104951386 T
T
 TGGAGACA
others(488): Show 
TGGAGACACATCCACCGAGGCCTCGATGGACCTCCCTGGGGCCGATACCC
CGAACGACGGCATCTTGAATTTGGGCATTTTGAACTTGCTGTCTTTGGCA
GTCATGTCCTTGTCGGCCAGGGACAGGTCTCCCTCCAGCCGCGCACCATC
CAGCTTAGCCTTCTGGGCCTGGACATCCACCTCCATGCTGGGCAGAGACA
CCTCGACATCGGGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGC
TTGGCGCCCTTAACATCCGTCTGGGGGCCCTTGAGGTCCACTTTGGGCAT
CTTGAAACTGGGCATATCCACCTTGGGCAAGTGCCCTTTGAGGCCGGCTC
CCTCGGGCACCTGGCCCTCCGGGAGCTTCATGTCCACTTGGCCAGCCTGG
ACCACCAGGTCTGCAGAAGGGAGCGGAATGCAGAGGTCCGTGGTCTTGAG
GTCCCCCTGCATGGAGGGGAGGCTCACATCGGCCTCCACCTTCGGC
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 disruptive_inframe_insertion MODERATE c.4064_4065insGCCGAA
others(489): Show 
c.4064_4065insGCCGAAGGTGGAGGCCGATGTGAGCCTCCCCTCCAT
GCAGGGGGACCTCAAGACCACGGACCTCTGCATTCCGCTCCCTTCTGCAG
ACCTGGTGGTCCAGGCTGGCCAAGTGGACATGAAGCTCCCGGAGGGCCAG
GTGCCCGAGGGAGCCGGCCTCAAAGGGCACTTGCCCAAGGTGGATATGCC
CAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGACGGATGTTA
AGGGCGCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAGTGACAGCCCCC
GATGTCGAGGTGTCTCTGCCCAGCATGGAGGTGGATGTCCAGGCCCAGAA
GGCTAAGCTGGATGGTGCGCGGCTGGAGGGAGACCTGTCCCTGGCCGACA
AGGACATGACTGCCAAAGACAGCAAGTTCAAAATGCCCAAATTCAAGATG
CCGTCGTTCGGGGTATCGGCCCCAGGGAGGTCCATCGAGGCCTCGGTGGA
TGTGTCTCC
 p.Ala1355_Pro1356ins
others(495): Show 
p.Ala1355_Pro1356insProLysValGluAlaAspValSerLeuPro
SerMetGlnGlyAspLeuLysThrThrAspLeuCysIleProLeuProSe
rAlaAspLeuValValGlnAlaGlyGlnValAspMetLysLeuProGluG
lyGlnValProGluGlyAlaGlyLeuLysGlyHisLeuProLysValAsp
MetProSerPheLysMetProLysValAspLeuLysGlyProGlnThrAs
pValLysGlyAlaLysLeuAspLeuLysGlyProLysAlaGluValThrA
laProAspValGluValSerLeuProSerMetGluValAspValGlnAla
GlnLysAlaLysLeuAspGlyAlaArgLeuGluGlyAspLeuSerLeuAl
aAspLysAspMetThrAlaLysAspSerLysPheLysMetProLysPheL
ysMetProSerPheGlyValSerAlaProGlyArgSerIleGluAlaSer
ValAspValSerPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4201/18335 4064/17388 1355/5795 chr14 104951386
chr14:104951391 A
A
 G
G
 3 a0069
a0080
a0081
a0069
a0080
a0081
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 missense_variant MODERATE c.4060T>C
c.4060T>C
 p.Ser1354Pro
p.Ser1354Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4197/18335 4060/17388 1354/5795 chr14 104951391
chr14:104951394 G
G
 C
C
 9 a0061
a0063
a0069
others(6): Show 
a0061
a0063
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 9 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
HG06807.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.4057C>G
c.4057C>G
 p.Leu1353Val
p.Leu1353Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4194/18335 4057/17388 1353/5795 chr14 104951394
chr14:104951400 C
C
 T
T
 1 a0070
a0070
 1 HG03209.hp1
HG03209.hp1
 missense_variant MODERATE c.4051G>A
c.4051G>A
 p.Val1351Met
p.Val1351Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4188/18335 4051/17388 1351/5795 chr14 104951400
chr14:104951429 G
G
 A
A
 60 a0004
a0006
a0009
others(57): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0019
a0026
a0027
a0028
a0032
a0034
a0053
a0056
a0057
a0058
a0059
a0060
a0062
a0063
a0067
a0070
a0071
a0072
a0073
a0077
a0078
a0079
a0082
a0083
a0084
a0085
a0087
a0088
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0102
a0103
a0125
a0126
a0127
a0128
a0130
a0131
a0132
a0195
a0196
a0203
a0204
a0207
a0211
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20300.hp2
 missense_variant MODERATE c.4022C>T
c.4022C>T
 p.Ser1341Phe
p.Ser1341Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4159/18335 4022/17388 1341/5795 chr14 104951429
chr14:104951432 A
A
 G
G
 3 a0061
a0074
a0075
a0061
a0074
a0075
 3 HG01884.hp1
HG02717.hp2
NA20129.hp2
HG01884.hp1
HG02717.hp2
NA20129.hp2
 missense_variant MODERATE c.4019T>C
c.4019T>C
 p.Val1340Ala
p.Val1340Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4156/18335 4019/17388 1340/5795 chr14 104951432
chr14:104951436 C
C
 T
T
 1 a0076
a0076
 1 HG01884.hp2
HG01884.hp2
 missense_variant MODERATE c.4015G>A
c.4015G>A
 p.Gly1339Arg
p.Gly1339Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4152/18335 4015/17388 1339/5795 chr14 104951436
chr14:104951444 G
G
 A
A
 1 a0069
a0069
 1 NA20129.hp1
NA20129.hp1
 missense_variant MODERATE c.4007C>T
c.4007C>T
 p.Pro1336Leu
p.Pro1336Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4144/18335 4007/17388 1336/5795 chr14 104951444
chr14:104951471 T
T
 C
C
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3980A>G
c.3980A>G
 p.Lys1327Arg
p.Lys1327Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4117/18335 3980/17388 1327/5795 chr14 104951471
chr14:104951518 G
G
 C
C
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3933C>G
c.3933C>G
 p.Asp1311Glu
p.Asp1311Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4070/18335 3933/17388 1311/5795 chr14 104951518
chr14:104951525 T
T
 C
C
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3926A>G
c.3926A>G
 p.Gln1309Arg
p.Gln1309Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4063/18335 3926/17388 1309/5795 chr14 104951525
chr14:104951528 G
G
 A
A
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3923C>T
c.3923C>T
 p.Ala1308Val
p.Ala1308Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4060/18335 3923/17388 1308/5795 chr14 104951528
chr14:104951532 C
C
 T
T
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3919G>A
c.3919G>A
 p.Gly1307Ser
p.Gly1307Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4056/18335 3919/17388 1307/5795 chr14 104951532
chr14:104951556 G
G
 C
C
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3895C>G
c.3895C>G
 p.Gln1299Glu
p.Gln1299Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4032/18335 3895/17388 1299/5795 chr14 104951556
chr14:104951557 C
C
 G
G
 140 a0004
a0005
a0006
others(137): Show 
a0004
a0005
a0006
a0007
a0009
a0010
a0012
a0013
a0014
a0016
a0017
a0019
a0026
a0027
a0028
a0032
a0034
a0035
a0036
a0037
a0038
a0039
a0040
a0041
a0042
a0043
a0044
a0045
a0053
a0054
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0067
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0085
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0099
a0100
a0101
a0102
a0103
a0114
a0124
a0125
a0126
a0127
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
a0164
a0165
a0166
a0167
a0168
a0169
a0188
a0189
a0190
a0191
a0192
a0193
a0194
a0195
a0196
a0197
a0199
a0201
a0203
a0204
a0206
a0207
a0208
a0209
a0210
a0211
 207 HG00140.hp2
HG00438.hp1
HG00438.hp2
others(204): Show 
HG00140.hp2
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00673.hp2
HG00738.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01109.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01346.hp2
HG01496.hp1
HG01517.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02257.hp2
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03688.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18906.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20805.hp1
 missense_variant MODERATE c.3894G>C
c.3894G>C
 p.Met1298Ile
p.Met1298Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4031/18335 3894/17388 1298/5795 chr14 104951557
chr14:104951559 T
T
 C
C
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3892A>G
c.3892A>G
 p.Met1298Val
p.Met1298Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4029/18335 3892/17388 1298/5795 chr14 104951559
chr14:104951588 G
G
 T
T
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3863C>A
c.3863C>A
 p.Ala1288Asp
p.Ala1288Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4000/18335 3863/17388 1288/5795 chr14 104951588
chr14:104951593 T
T
 A
A
 7 a0061
a0069
a0074
others(4): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3858A>T
c.3858A>T
 p.Glu1286Asp
p.Glu1286Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3995/18335 3858/17388 1286/5795 chr14 104951593
chr14:104951593 T
T
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3858A>C
c.3858A>C
 p.Glu1286Asp
p.Glu1286Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3995/18335 3858/17388 1286/5795 chr14 104951593
chr14:104951597 T
T
 G
G
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3854A>C
c.3854A>C
 p.His1285Pro
p.His1285Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3991/18335 3854/17388 1285/5795 chr14 104951597
chr14:104951603 G
G
 A
A
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3848C>T
c.3848C>T
 p.Thr1283Met
p.Thr1283Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3985/18335 3848/17388 1283/5795 chr14 104951603
chr14:104951618 T
T
 G
G
 8 a0061
a0069
a0074
others(5): Show 
a0061
a0069
a0074
a0075
a0080
a0081
a0089
a0114
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3833A>C
c.3833A>C
 p.His1278Pro
p.His1278Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3970/18335 3833/17388 1278/5795 chr14 104951618
chr14:104951622 C
C
 T
T
 11 a0020
a0061
a0064
others(8): Show 
a0020
a0061
a0064
a0066
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 13 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(10): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3829G>A
c.3829G>A
 p.Gly1277Ser
p.Gly1277Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3966/18335 3829/17388 1277/5795 chr14 104951622
chr14:104951645 C
C
 T
T
 12 a0020
a0061
a0064
others(9): Show 
a0020
a0061
a0064
a0066
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
 14 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(11): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3806G>A
c.3806G>A
 p.Arg1269Lys
p.Arg1269Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3943/18335 3806/17388 1269/5795 chr14 104951645
chr14:104951650 T
T
 G
G
 12 a0020
a0061
a0064
others(9): Show 
a0020
a0061
a0064
a0066
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
 14 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(11): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3801A>C
c.3801A>C
 p.Glu1267Asp
p.Glu1267Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3938/18335 3801/17388 1267/5795 chr14 104951650
chr14:104951655 C
C
 T
T
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3796G>A
c.3796G>A
 p.Val1266Met
p.Val1266Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3933/18335 3796/17388 1266/5795 chr14 104951655
chr14:104951670 G
G
 T
T
 13 a0018
a0020
a0061
others(10): Show 
a0018
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 17 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(14): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3781C>A
c.3781C>A
 p.Leu1261Ile
p.Leu1261Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3918/18335 3781/17388 1261/5795 chr14 104951670
chr14:104951672 T
T
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3779A>C
c.3779A>C
 p.Asp1260Ala
p.Asp1260Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3916/18335 3779/17388 1260/5795 chr14 104951672
chr14:104951689 C
C
 G
G
 13 a0018
a0020
a0061
others(10): Show 
a0018
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 17 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(14): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3762G>C
c.3762G>C
 p.Leu1254Phe
p.Leu1254Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3899/18335 3762/17388 1254/5795 chr14 104951689
chr14:104951727 A
A
 G
G
 13 a0018
a0020
a0061
others(10): Show 
a0018
a0020
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 17 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(14): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3724T>C
c.3724T>C
 p.Phe1242Leu
p.Phe1242Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3861/18335 3724/17388 1242/5795 chr14 104951727
chr14:104951730 C
C
 T
T
 2 a0188
a0189
a0188
a0189
 2 HG02280.hp2
HG02965.hp1
HG02280.hp2
HG02965.hp1
 missense_variant MODERATE c.3721G>A
c.3721G>A
 p.Gly1241Ser
p.Gly1241Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3858/18335 3721/17388 1241/5795 chr14 104951730
chr14:104951742 G
G
 GAAGGGGG
others(488): Show 
GAAGGGGGCCCTCCGGGAGTTTCACGTTCACTTGGCCAGCCTGGACCTCC
AGGTCAGCGGAAGGGGACTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCC
CTGCATGGAGGGGAGGCTCACATCAGCTTCCACCTTCGGCTCAGACACAT
CCACCGAGGCCTCGATGGACTTGCCTGGGGCCGACACCCCAAATGATGGC
ATCTTGAACTTGGGCATTTTGAACTTGCTGTCTTTGGCAGTCACCGCCTT
GTCGGCCAGGGACAGGTCCCCCTCCAGCTGCGCACCATCCAGCTTTGCTC
TCGGGGCCTGGACGTCCACCTCCATGCTGGACAGAGACATCTTCACATCG
GGGGCTGTCACTTCCGCCTTGGGGCCTTTCAGGTCCAGCTTGGGGCCCTT
AACATCTATCTGGGGCCCCTTGAGGTCCACTTTGGGCATCTTGAAACTGG
GCATCTGCACTTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGA
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 conservative_inframe_insertion MODERATE c.3708_3709insTCCGAG
others(489): Show 
c.3708_3709insTCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAA
GTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACCTCAAGGGGCCCCA
GATAGATGTTAAGGGCCCCAAGCTGGACCTGAAAGGCCCCAAGGCGGAAG
TGACAGCCCCCGATGTGAAGATGTCTCTGTCCAGCATGGAGGTGGACGTC
CAGGCCCCGAGAGCAAAGCTGGATGGTGCGCAGCTGGAGGGGGACCTGTC
CCTGGCCGACAAGGCGGTGACTGCCAAAGACAGCAAGTTCAAAATGCCCA
AGTTCAAGATGCCATCATTTGGGGTGTCGGCCCCAGGCAAGTCCATCGAG
GCCTCGGTGGATGTGTCTGAGCCGAAGGTGGAAGCTGATGTGAGCCTCCC
CTCCATGCAGGGGGACCTCAAGACCACTGACCTCAGCATTCAGTCCCCTT
CCGCTGACCTGGAGGTCCAGGCTGGCCAAGTGAACGTGAAACTCCCGGAG
GGCCCCCTT
 p.Val1236_Pro1237ins
others(495): Show 
p.Val1236_Pro1237insSerGluGlyAlaGlyLeuLysGlyHisLeu
ProLysValGlnMetProSerPheLysMetProLysValAspLeuLysGl
yProGlnIleAspValLysGlyProLysLeuAspLeuLysGlyProLysA
laGluValThrAlaProAspValLysMetSerLeuSerSerMetGluVal
AspValGlnAlaProArgAlaLysLeuAspGlyAlaGlnLeuGluGlyAs
pLeuSerLeuAlaAspLysAlaValThrAlaLysAspSerLysPheLysM
etProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSer
IleGluAlaSerValAspValSerGluProLysValGluAlaAspValSe
rLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSerIleGlnS
erProSerAlaAspLeuGluValGlnAlaGlyGlnValAsnValLysLeu
ProGluGlyProLeu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3845/18335 3708/17388 1236/5795 chr14 104951742
chr14:104951747 T
T
 G
G
 1 a0114
a0114
 1 HG03688.hp1
HG03688.hp1
 missense_variant MODERATE c.3704A>C
c.3704A>C
 p.His1235Pro
p.His1235Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3841/18335 3704/17388 1235/5795 chr14 104951747
chr14:104951782 G
G
 C
C
 15 a0018
a0020
a0028
others(12): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
a0114
 20 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(17): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3669C>G
c.3669C>G
 p.His1223Gln
p.His1223Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3806/18335 3669/17388 1223/5795 chr14 104951782
chr14:104951790 C
C
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3661G>A
c.3661G>A
 p.Glu1221Lys
p.Glu1221Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3798/18335 3661/17388 1221/5795 chr14 104951790
chr14:104951799 C
C
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3652G>A
c.3652G>A
 p.Ala1218Thr
p.Ala1218Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3789/18335 3652/17388 1218/5795 chr14 104951799
chr14:104951806 GGGCTGAA
others(488): Show 
GGGCTGAATGCTGAGGTCAGTGGTCTTGAGGTCCCCCTGCATGGAGGGGA
GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCGAGGCCTCG
ATGGACTTGCCTGGGGCTGACGCCCCGAACGATGGCATCTTGAACTTGGG
CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA
GTTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGACG
TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC
CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG
GGCCCTTGAGGGCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTG
GGCAAGTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAG
CTTCACATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCA
 G
G
 1 a0197
a0197
 1 HG02922.hp2
HG02922.hp2
 disruptive_inframe_deletion MODERATE c.3150_3644del
c.3150_3644del
 p.Ala1051_Pro1215del
p.Ala1051_Pro1215del
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3781/18335 3150/17388 1050/5795 chr14 104951806
chr14:104951829 T
T
 C
C
 17 a0018
a0020
a0028
others(14): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0088
a0089
a0114
a0129
 22 HG00609.hp1
HG01167.hp2
HG01517.hp1
others(19): Show 
HG00609.hp1
HG01167.hp2
HG01517.hp1
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03834.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3622A>G
c.3622A>G
 p.Thr1208Ala
p.Thr1208Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3759/18335 3622/17388 1208/5795 chr14 104951829
chr14:104951845 C
C
 T
T
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.3606G>A
c.3606G>A
 p.Met1202Ile
p.Met1202Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3743/18335 3606/17388 1202/5795 chr14 104951845
chr14:104951886 A
A
 G
G
 7 a0033
a0077
a0078
others(4): Show 
a0033
a0077
a0078
a0079
a0082
a0083
a0202
 8 HG02055.hp2
HG02074.hp1
HG02451.hp1
others(5): Show 
HG02055.hp2
HG02074.hp1
HG02451.hp1
HG03098.hp1
HG03471.hp1
NA18522.hp2
NA19009.hp2
NA19090.hp1
 missense_variant MODERATE c.3565T>C
c.3565T>C
 p.Ser1189Pro
p.Ser1189Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3702/18335 3565/17388 1189/5795 chr14 104951886
chr14:104951897 G
G
 A
A
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3554C>T
c.3554C>T
 p.Ser1185Leu
p.Ser1185Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3691/18335 3554/17388 1185/5795 chr14 104951897
chr14:104951898 A
A
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3553T>A
c.3553T>A
 p.Ser1185Thr
p.Ser1185Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3690/18335 3553/17388 1185/5795 chr14 104951898
chr14:104951904 C
C
 G
G
 1 a0122
a0122
 1 NA19043.hp2
NA19043.hp2
 missense_variant MODERATE c.3547G>C
c.3547G>C
 p.Glu1183Gln
p.Glu1183Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3684/18335 3547/17388 1183/5795 chr14 104951904
chr14:104951905 G
G
 C
C
 3 a0096
a0097
a0123
a0096
a0097
a0123
 3 HG01074.hp2
HG02040.hp2
HG02738.hp2
HG01074.hp2
HG02040.hp2
HG02738.hp2
 missense_variant MODERATE c.3546C>G
c.3546C>G
 p.Ile1182Met
p.Ile1182Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3683/18335 3546/17388 1182/5795 chr14 104951905
chr14:104951927 G
G
 A
A
 62 a0001
a0006
a0010
others(59): Show 
a0001
a0006
a0010
a0018
a0019
a0020
a0021
a0022
a0025
a0027
a0028
a0030
a0031
a0052
a0061
a0064
a0066
a0067
a0068
a0069
a0074
a0075
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0086
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0105
a0108
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0190
a0191
a0192
a0193
a0194
a0198
a0211
 108 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(105): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp1
HG02165.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18954.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18984.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19058.hp2
NA19065.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3524C>T
c.3524C>T
 p.Ala1175Val
p.Ala1175Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3661/18335 3524/17388 1175/5795 chr14 104951927
chr14:104951936 G
G
 A
A
 1 a0108
a0108
 1 HG02572.hp1
HG02572.hp1
 missense_variant MODERATE c.3515C>T
c.3515C>T
 p.Ser1172Leu
p.Ser1172Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3652/18335 3515/17388 1172/5795 chr14 104951936
chr14:104951939 G
G
 A
A
 5 a0032
a0125
a0126
others(2): Show 
a0032
a0125
a0126
a0127
a0128
 6 HG02559.hp2
HG02615.hp1
HG02622.hp1
others(3): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG06807.hp2
NA18522.hp1
 missense_variant MODERATE c.3512C>T
c.3512C>T
 p.Pro1171Leu
p.Pro1171Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3649/18335 3512/17388 1171/5795 chr14 104951939
chr14:104951966 C
C
 T
T
 3 a0023
a0067
a0124
a0023
a0067
a0124
 5 HG02132.hp2
HG02155.hp2
NA18747.hp2
others(2): Show 
HG02132.hp2
HG02155.hp2
NA18747.hp2
NA19030.hp1
NA19043.hp1
 missense_variant MODERATE c.3485G>A
c.3485G>A
 p.Arg1162Lys
p.Arg1162Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3622/18335 3485/17388 1162/5795 chr14 104951966
chr14:104952007 T
T
 G
G
 85 a0001
a0004
a0006
others(82): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0016
a0017
a0018
a0019
a0020
a0021
a0022
a0025
a0026
a0027
a0028
a0029
a0030
a0031
a0052
a0053
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0086
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0207
a0211
 152 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(149): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3444A>C
c.3444A>C
 p.Glu1148Asp
p.Glu1148Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3581/18335 3444/17388 1148/5795 chr14 104952007
chr14:104952020 C
C
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3431G>A
c.3431G>A
 p.Arg1144Gln
p.Arg1144Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3568/18335 3431/17388 1144/5795 chr14 104952020
chr14:104952021 G
G
 A
A
 3 a0011
a0029
a0107
a0011
a0029
a0107
 7 NA18953.hp1
NA19002.hp1
NA19004.hp2
others(4): Show 
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
 missense_variant MODERATE c.3430C>T
c.3430C>T
 p.Arg1144Trp
p.Arg1144Trp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3567/18335 3430/17388 1144/5795 chr14 104952021
chr14:104952027 T
T
 C
C
 3 a0011
a0029
a0107
a0011
a0029
a0107
 7 NA18953.hp1
NA19002.hp1
NA19004.hp2
others(4): Show 
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
 missense_variant MODERATE c.3424A>G
c.3424A>G
 p.Ser1142Gly
p.Ser1142Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3561/18335 3424/17388 1142/5795 chr14 104952027
chr14:104952042 C
C
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3409G>A
c.3409G>A
 p.Gly1137Arg
p.Gly1137Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3546/18335 3409/17388 1137/5795 chr14 104952042
chr14:104952044 G
G
 A
A
 1 a0207
a0207
 1 HG03492.hp2
HG03492.hp2
 missense_variant MODERATE c.3407C>T
c.3407C>T
 p.Pro1136Leu
p.Pro1136Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3544/18335 3407/17388 1136/5795 chr14 104952044
chr14:104952044 G
G
 C
C
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3407C>G
c.3407C>G
 p.Pro1136Arg
p.Pro1136Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3544/18335 3407/17388 1136/5795 chr14 104952044
chr14:104952051 C
C
 G
G
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3400G>C
c.3400G>C
 p.Glu1134Gln
p.Glu1134Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3537/18335 3400/17388 1134/5795 chr14 104952051
chr14:104952054 C
C
 T
T
 71 a0001
a0004
a0006
others(68): Show 
a0001
a0004
a0006
a0009
a0010
a0011
a0016
a0017
a0019
a0021
a0022
a0025
a0026
a0027
a0029
a0030
a0031
a0052
a0053
a0056
a0057
a0058
a0059
a0060
a0062
a0063
a0067
a0070
a0071
a0072
a0073
a0076
a0077
a0078
a0079
a0082
a0083
a0084
a0087
a0088
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0105
a0107
a0108
a0109
a0110
a0111
a0112
a0113
a0114
a0115
a0116
a0117
a0118
a0119
a0120
a0121
a0122
a0123
a0207
a0211
 133 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(130): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 missense_variant MODERATE c.3397G>A
c.3397G>A
 p.Val1133Ile
p.Val1133Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3534/18335 3397/17388 1133/5795 chr14 104952054
chr14:104952095 G
G
 A
A
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3356C>T
c.3356C>T
 p.Ala1119Val
p.Ala1119Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3493/18335 3356/17388 1119/5795 chr14 104952095
chr14:104952098 G
G
 C
C
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3353C>G
c.3353C>G
 p.Thr1118Arg
p.Thr1118Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3490/18335 3353/17388 1118/5795 chr14 104952098
chr14:104952107 G
G
 A
A
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3344C>T
c.3344C>T
 p.Ala1115Val
p.Ala1115Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3481/18335 3344/17388 1115/5795 chr14 104952107
chr14:104952116 C
C
 T
T
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3335G>A
c.3335G>A
 p.Ser1112Asn
p.Ser1112Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3472/18335 3335/17388 1112/5795 chr14 104952116
chr14:104952117 T
T
 C
C
 14 a0018
a0020
a0028
others(11): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3334A>G
c.3334A>G
 p.Ser1112Gly
p.Ser1112Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3471/18335 3334/17388 1112/5795 chr14 104952117
chr14:104952121 C
C
 CAGGTCCA
others(488): Show 
CAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCCTTGATGTCCA
CTTTGGGCATCTTGAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTG
AGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTG
GCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAG
TGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACT
TTGGGTGCAGACACATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGA
CACCCCAAACGACGGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTT
TGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCA
CTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAG
AGACACCTCGACATCGGGGACTCTCACTTCCACCTTGGGGTCTTTT
 1 a0067
a0067
 1 NA19030.hp1
NA19030.hp1
 disruptive_inframe_insertion MODERATE c.3329_3330insAAAAGA
others(489): Show 
c.3329_3330insAAAAGACCCCAAGGTGGAAGTGAGAGTCCCCGATGT
CGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAGGCTCGGAGAGCCA
AGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTTGGCCGACAAGGAT
GTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGTTCAAGATGCCGTC
GTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCCATGGTGGATGTGT
CTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTCCATGCAGGGGGAC
CTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCACCGACCTGAAGGT
CCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGCCACGTTCCCGAGG
GAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGATGCCCAGTTTCAAG
ATGCCCAAAGTGGACATCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAA
GCTGGACCT
 p.Leu1110_Lys1111ins
others(495): Show 
p.Leu1110_Lys1111insLysAspProLysValGluValArgValPro
AspValGluValSerLeuProSerValGluValAspValGlnAlaArgAr
gAlaLysLeuAspSerAlaGlnLeuGluGlyAspLeuSerLeuAlaAspL
ysAspValThrAlaLysAspSerArgPheLysMetProLysPheLysMet
ProSerPheGlyValSerAlaProGlyLysSerIleGluAlaMetValAs
pValSerAlaProLysValGluAlaAspValSerLeuProSerMetGlnG
lyAspLeuLysAlaThrAspLeuSerIleGlnProProSerThrAspLeu
LysValGlnAlaGlyGlnValAspValLysLeuLeuGluGlyHisValPr
oGluGlyAlaGlyLeuLysGlyHisLeuProLysValGlnMetProSerP
heLysMetProLysValAspIleLysGlyProGlnValAspIleLysGly
ProLysLeuAspLeu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3466/18335 3329/17388 1110/5795 chr14 104952121
chr14:104952144 C
C
 CGTCCACC
others(488): Show 
CGTCCACCTGGGGGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGC
ATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTG
GCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGG
TGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATG
GAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAT
GGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGA
ACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCC
AAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGC
CTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTC
TCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGAT
 42 a0004
a0006
a0009
others(39): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0019
a0026
a0027
a0053
a0056
a0057
a0058
a0059
a0060
a0062
a0063
a0070
a0071
a0072
a0073
a0076
a0077
a0078
a0079
a0082
a0083
a0084
a0087
a0088
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0207
a0211
 71 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(68): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp2
HG01175.hp2
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG03041.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
 conservative_inframe_insertion MODERATE c.3306_3307insATCAAG
others(489): Show 
c.3306_3307insATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAG
GTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGT
GGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGG
ACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAA
ATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTC
CATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGA
GTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAG
CCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACT
CCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCA
AGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAAGGGCCCC
CAGGTGGAC
 p.Asp1102_Val1103ins
others(495): Show 
p.Asp1102_Val1103insIleLysGlyProLysLeuAspLeuLysAsp
ProLysValGluValArgValProAspValGluValSerLeuProSerVa
lGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuG
luGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerArg
PheLysMetProLysPheLysMetProSerPheGlyValSerAlaProGl
yLysSerIleGluAlaMetValAspValSerAlaProLysValGluAlaA
spValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSer
IleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnValAspVa
lLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisL
euProLysValGlnMetProSerPheLysMetProLysValAspIleLys
GlyProGlnValAsp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3443/18335 3306/17388 1102/5795 chr14 104952144
chr14:104952144 C
C
 T
T
 15 a0018
a0020
a0028
others(12): Show 
a0018
a0020
a0028
a0061
a0064
a0066
a0067
a0068
a0069
a0074
a0075
a0080
a0081
a0086
a0089
 20 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(17): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19030.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3307G>A
c.3307G>A
 p.Val1103Ile
p.Val1103Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3444/18335 3307/17388 1103/5795 chr14 104952144
chr14:104952146 T
T
 C
C
 1 a0195
a0195
 1 HG03225.hp1
HG03225.hp1
 missense_variant MODERATE c.3305A>G
c.3305A>G
 p.Asp1102Gly
p.Asp1102Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3442/18335 3305/17388 1102/5795 chr14 104952146
chr14:104952165 G
G
 T
T
 1 a0092
a0092
 1 NA18995.hp1
NA18995.hp1
 missense_variant MODERATE c.3286C>A
c.3286C>A
 p.Leu1096Ile
p.Leu1096Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3423/18335 3286/17388 1096/5795 chr14 104952165
chr14:104952167 G
G
 T
T
 58 a0004
a0006
a0009
others(55): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0028
a0053
a0056
a0057
a0058
a0059
a0060
a0061
a0062
a0063
a0064
a0066
a0067
a0068
a0069
a0070
a0071
a0072
a0073
a0074
a0075
a0076
a0077
a0078
a0079
a0080
a0081
a0082
a0083
a0084
a0086
a0087
a0088
a0089
a0090
a0091
a0092
a0093
a0094
a0095
a0096
a0097
a0098
a0100
a0101
a0207
a0211
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.3284C>A
c.3284C>A
 p.Ala1095Asp
p.Ala1095Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3421/18335 3284/17388 1095/5795 chr14 104952167
chr14:104952184 G
G
 C
C
 24 a0006
a0009
a0010
others(21): Show 
a0006
a0009
a0010
a0017
a0018
a0019
a0020
a0027
a0053
a0066
a0086
a0087
a0088
a0089
a0090
a0091
a0093
a0094
a0095
a0096
a0097
a0196
a0207
a0211
 46 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(43): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02273.hp1
HG02486.hp2
HG02602.hp2
HG02738.hp2
HG03017.hp2
HG03492.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
 missense_variant MODERATE c.3267C>G
c.3267C>G
 p.Phe1089Leu
p.Phe1089Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3404/18335 3267/17388 1089/5795 chr14 104952184
chr14:104952184 G
G
 GAAACTGG
others(488): Show 
GAAACTGGGCATCTGCACCTTGGGCAGGTGCCCTTTGAGGCCGGCTCCCT
CGGGAACGTGGCCCTCCAGGAGTTTCACGTCCACCTGGCCAGCCTGGACC
TTCAGGTCGGTGGAAGGGGGCTGAATGCTGAGGTCAGTGGCCTTCAGGTC
CCCCTGCATGGAGGGGAGACTCACGTCGGCCTCCACTTTGGGTGCAGACA
CATCCACCATGGCCTCGATGGACTTGCCTGGGGCAGACACCCCAAACGAC
GGCATCTTGAACTTGGGCATTTTGAACCTGCTGTCTTTGGCAGTCACATC
CTTGTCGGCCAAGGACAGGTCCCCCTCCAACTGTGCACTATCCAGCTTGG
CTCTCCGAGCCTGGACGTCCACCTCGACGCTGGGCAGAGACACCTCGACA
TCGGGGACTCTCACTTCCACCTTGGGGTCTTTTAGGTCCAGCTTGGGGCC
CTTGATGTCCACCTGGGGGCCCTTGAGGTCCACTTTGGGCATCTTC
 1 a0092
a0092
 1 NA18995.hp1
NA18995.hp1
 disruptive_inframe_insertion MODERATE c.3266_3267insGAAGAT
others(489): Show 
c.3266_3267insGAAGATGCCCAAAGTGGACCTCAAGGGCCCCCAGGT
GGACATCAAGGGCCCCAAGCTGGACCTAAAAGACCCCAAGGTGGAAGTGA
GAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCGTCGAGGTGGACGTCCAG
GCTCGGAGAGCCAAGCTGGATAGTGCACAGTTGGAGGGGGACCTGTCCTT
GGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCAAAATGCCCAAGT
TCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAGGCAAGTCCATCGAGGCC
ATGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGTGAGTCTCCCCTC
CATGCAGGGGGACCTGAAGGCCACTGACCTCAGCATTCAGCCCCCTTCCA
CCGACCTGAAGGTCCAGGCTGGCCAGGTGGACGTGAAACTCCTGGAGGGC
CACGTTCCCGAGGGAGCCGGCCTCAAAGGGCACCTGCCCAAGGTGCAGAT
GCCCAGTTT
 p.Ser1088_Phe1089ins
others(495): Show 
p.Ser1088_Phe1089insLeuLysMetProLysValAspLeuLysGly
ProGlnValAspIleLysGlyProLysLeuAspLeuLysAspProLysVa
lGluValArgValProAspValGluValSerLeuProSerValGluValA
spValGlnAlaArgArgAlaLysLeuAspSerAlaGlnLeuGluGlyAsp
LeuSerLeuAlaAspLysAspValThrAlaLysAspSerArgPheLysMe
tProLysPheLysMetProSerPheGlyValSerAlaProGlyLysSerI
leGluAlaMetValAspValSerAlaProLysValGluAlaAspValSer
LeuProSerMetGlnGlyAspLeuLysAlaThrAspLeuSerIleGlnPr
oProSerThrAspLeuLysValGlnAlaGlyGlnValAspValLysLeuL
euGluGlyHisValProGluGlyAlaGlyLeuLysGlyHisLeuProLys
ValGlnMetProSer
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3403/18335 3266/17388 1089/5795 chr14 104952184
chr14:104952301 A
A
 AGGCTGAA
others(983): Show 
AGGCTGAATGCTGAGGTCAGTGGTCTTCAGGTCCCCCTGCATGGAGGGGA
GACTCACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCAAGGCCTTG
ATGGACTTGCCTGGGGCCGATACCCCGAACGATGGCATCTTGAACTTGGG
CATTTTGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAGGGACA
GGTCCCCCTCCAGCCGCGCACTGTCCAGCTTGGCTCCCGGGGCCTCGATG
TCCACCTCCACGCTGGGCAGAGACACCTCCACATCAGGGGCTGTGACTTC
CGCCTTGGGGCTTTTCAGGTCCAGCTTGGGGCCCTTGACGTCCACCTGGG
GGCCCTTGATGTCCACTTTGGGCATCTTGAAACTGGGCATCTGCACCTTG
GGCAGGTGCCCTTTGAGGCCGGCTCCCTCGGGAACGTGGCCCTCCAGGAG
TTTCACGTCCACCTGGCCAGCCTGGACCTTCAGGTCGGTGGAAGGGGGCT
GAATGCTGAGGTCAGTGGCCTTCAGGTCCCCCTGCATGGAGGGGAGACTC
ACGTCGGCCTCCACTTTGGGTGCAGACACATCCACCATGGCCTCGATGGA
CTTGCCTGGGGCAGACACCCCAAACGACGGCATCTTGAACTTGGGCATTT
TGAACCTGCTGTCTTTGGCAGTCACATCCTTGTCGGCCAAGGACAGGTCC
CCCTCCAACTGTGCACTATCCAGCTTGGCTCTCCGAGCCTGGACGTCCAC
CTCGACGCTGGGCAGAGACACCTCGACATCGGGGACTCTCACTTCCACCT
TGGGGTCTTTTAGGTCCAGCTTGGGGCCCTTGATGTCCACCTGGGGGCCC
TTGAGGTCCACTTTGGGCATCTTGAAACTGGGCATCTCCACCTTGGGCAA
GTGCCCTTTAAGGCCAGCTCCCTCGGGCAGGTGGCCCTCCGGGAGCTTCA
CATCCACCTGGTCAGCCTGGACCTTCAGGTCAGTAGAAGCG
 1 a0085
a0085
 1 HG01255.hp2
HG01255.hp2
 disruptive_inframe_insertion MODERATE c.3149_3150insCGCTTC
others(984): Show 
c.3149_3150insCGCTTCTACTGACCTGAAGGTCCAGGCTGACCAGGT
GGATGTGAAGCTCCCGGAGGGCCACCTGCCCGAGGGAGCTGGCCTTAAAG
GGCACTTGCCCAAGGTGGAGATGCCCAGTTTCAAGATGCCCAAAGTGGAC
CTCAAGGGCCCCCAGGTGGACATCAAGGGCCCCAAGCTGGACCTAAAAGA
CCCCAAGGTGGAAGTGAGAGTCCCCGATGTCGAGGTGTCTCTGCCCAGCG
TCGAGGTGGACGTCCAGGCTCGGAGAGCCAAGCTGGATAGTGCACAGTTG
GAGGGGGACCTGTCCTTGGCCGACAAGGATGTGACTGCCAAAGACAGCAG
GTTCAAAATGCCCAAGTTCAAGATGCCGTCGTTTGGGGTGTCTGCCCCAG
GCAAGTCCATCGAGGCCATGGTGGATGTGTCTGCACCCAAAGTGGAGGCC
GACGTGAGTCTCCCCTCCATGCAGGGGGACCTGAAGGCCACTGACCTCAG
CATTCAGCCCCCTTCCACCGACCTGAAGGTCCAGGCTGGCCAGGTGGACG
TGAAACTCCTGGAGGGCCACGTTCCCGAGGGAGCCGGCCTCAAAGGGCAC
CTGCCCAAGGTGCAGATGCCCAGTTTCAAGATGCCCAAAGTGGACATCAA
GGGCCCCCAGGTGGACGTCAAGGGCCCCAAGCTGGACCTGAAAAGCCCCA
AGGCGGAAGTCACAGCCCCTGATGTGGAGGTGTCTCTGCCCAGCGTGGAG
GTGGACATCGAGGCCCCGGGAGCCAAGCTGGACAGTGCGCGGCTGGAGGG
GGACCTGTCCCTGGCCGACAAGGATGTGACTGCCAAAGACAGCAGGTTCA
AAATGCCCAAGTTCAAGATGCCATCGTTCGGGGTATCGGCCCCAGGCAAG
TCCATCAAGGCCTTGGTGGATGTGTCTGCACCCAAAGTGGAGGCCGACGT
GAGTCTCCCCTCCATGCAGGGGGACCTGAAGACCACTGACCTCAGCATTC
AGCC
 p.Pro1050_Ala1051ins
others(990): Show 
p.Pro1050_Ala1051insAlaSerThrAspLeuLysValGlnAlaAsp
GlnValAspValLysLeuProGluGlyHisLeuProGluGlyAlaGlyLe
uLysGlyHisLeuProLysValGluMetProSerPheLysMetProLysV
alAspLeuLysGlyProGlnValAspIleLysGlyProLysLeuAspLeu
LysAspProLysValGluValArgValProAspValGluValSerLeuPr
oSerValGluValAspValGlnAlaArgArgAlaLysLeuAspSerAlaG
lnLeuGluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAsp
SerArgPheLysMetProLysPheLysMetProSerPheGlyValSerAl
aProGlyLysSerIleGluAlaMetValAspValSerAlaProLysValG
luAlaAspValSerLeuProSerMetGlnGlyAspLeuLysAlaThrAsp
LeuSerIleGlnProProSerThrAspLeuLysValGlnAlaGlyGlnVa
lAspValLysLeuLeuGluGlyHisValProGluGlyAlaGlyLeuLysG
lyHisLeuProLysValGlnMetProSerPheLysMetProLysValAsp
IleLysGlyProGlnValAspValLysGlyProLysLeuAspLeuLysSe
rProLysAlaGluValThrAlaProAspValGluValSerLeuProSerV
alGluValAspIleGluAlaProGlyAlaLysLeuAspSerAlaArgLeu
GluGlyAspLeuSerLeuAlaAspLysAspValThrAlaLysAspSerAr
gPheLysMetProLysPheLysMetProSerPheGlyValSerAlaProG
lyLysSerIleLysAlaLeuValAspValSerAlaProLysValGluAla
AspValSerLeuProSerMetGlnGlyAspLeuLysThrThrAspLeuSe
rIleGlnPro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3286/18335 3149/17388 1050/5795 chr14 104952301
chr14:104952407 T
T
 C
C
 1 a0198
a0198
 1 NA18954.hp2
NA18954.hp2
 missense_variant MODERATE c.3044A>G
c.3044A>G
 p.Lys1015Arg
p.Lys1015Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3181/18335 3044/17388 1015/5795 chr14 104952407
chr14:104952489 C
C
 T
T
 1 a0199
a0199
 1 NA18956.hp1
NA18956.hp1
 missense_variant MODERATE c.2962G>A
c.2962G>A
 p.Asp988Asn
p.Asp988Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3099/18335 2962/17388 988/5795 chr14 104952489
chr14:104952581 C
C
 A
A
 1 a0028
a0028
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 missense_variant MODERATE c.2870G>T
c.2870G>T
 p.Gly957Val
p.Gly957Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3007/18335 2870/17388 957/5795 chr14 104952581
chr14:104952593 G
G
 A
A
 1 a0066
a0066
 1 HG00609.hp1
HG00609.hp1
 missense_variant MODERATE c.2858C>T
c.2858C>T
 p.Thr953Ile
p.Thr953Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2995/18335 2858/17388 953/5795 chr14 104952593
chr14:104952674 A
A
 G
G
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.2777T>C
c.2777T>C
 p.Met926Thr
p.Met926Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2914/18335 2777/17388 926/5795 chr14 104952674
chr14:104952679 G
G
 T
T
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.2772C>A
c.2772C>A
 p.Phe924Leu
p.Phe924Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2909/18335 2772/17388 924/5795 chr14 104952679
chr14:104952798 G
G
 A
A
 1 a0200
a0200
 1 HG01978.hp1
HG01978.hp1
 missense_variant MODERATE c.2653C>T
c.2653C>T
 p.Pro885Ser
p.Pro885Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2790/18335 2653/17388 885/5795 chr14 104952798
chr14:104952885 C
C
 T
T
 5 a0061
a0062
a0063
others(2): Show 
a0061
a0062
a0063
a0064
a0098
 5 HG01884.hp1
HG02809.hp2
HG03130.hp1
others(2): Show 
HG01884.hp1
HG02809.hp2
HG03130.hp1
HG03453.hp1
HG06807.hp1
 missense_variant MODERATE c.2566G>A
c.2566G>A
 p.Val856Met
p.Val856Met
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2703/18335 2566/17388 856/5795 chr14 104952885
chr14:104952897 T
T
 C
C
 61 a0004
a0006
a0009
others(58): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0028
a0053
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
a0100
a0101
a0201
a0207
a0211
 95 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(92): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02622.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.2554A>G
c.2554A>G
 p.Met852Val
p.Met852Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2691/18335 2554/17388 852/5795 chr14 104952897
chr14:104953010 C
C
 T
T
 1 a0105
a0105
 1 HG00741.hp2
HG00741.hp2
 missense_variant MODERATE c.2441G>A
c.2441G>A
 p.Arg814Gln
p.Arg814Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2578/18335 2441/17388 814/5795 chr14 104953010
chr14:104953035 G
G
 T
T
 1 a0202
a0202
 1 HG02074.hp1
HG02074.hp1
 missense_variant MODERATE c.2416C>A
c.2416C>A
 p.Pro806Thr
p.Pro806Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2553/18335 2416/17388 806/5795 chr14 104953035
chr14:104953212 G
G
 T
T
 4 a0004
a0056
a0057
others(1): Show 
a0004
a0056
a0057
a0058
 12 HG00438.hp2
HG00558.hp1
HG02698.hp2
others(9): Show 
HG00438.hp2
HG00558.hp1
HG02698.hp2
HG03710.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.2239C>A
c.2239C>A
 p.Pro747Thr
p.Pro747Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2376/18335 2239/17388 747/5795 chr14 104953212
chr14:104953214 C
C
 G
G
 3 a0016
a0059
a0060
a0016
a0059
a0060
 5 HG01099.hp1
HG01168.hp2
HG02735.hp2
others(2): Show 
HG01099.hp1
HG01168.hp2
HG02735.hp2
HG03834.hp1
HG04228.hp1
 missense_variant MODERATE c.2237G>C
c.2237G>C
 p.Gly746Ala
p.Gly746Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2374/18335 2237/17388 746/5795 chr14 104953214
chr14:104953220 G
G
 A
A
 59 a0004
a0006
a0009
others(56): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0028
a0053
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
a0100
a0101
a0207
a0211
 93 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(90): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.2231C>T
c.2231C>T
 p.Pro744Leu
p.Pro744Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2368/18335 2231/17388 744/5795 chr14 104953220
chr14:104953273 C
C
 G
G
 4 a0004
a0056
a0057
others(1): Show 
a0004
a0056
a0057
a0058
 12 HG00438.hp2
HG00558.hp1
HG02698.hp2
others(9): Show 
HG00438.hp2
HG00558.hp1
HG02698.hp2
HG03710.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 missense_variant MODERATE c.2178G>C
c.2178G>C
 p.Gln726His
p.Gln726His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2315/18335 2178/17388 726/5795 chr14 104953273
chr14:104953316 A
A
 G
G
 1 a0203
a0203
 1 HG02451.hp2
HG02451.hp2
 missense_variant MODERATE c.2135T>C
c.2135T>C
 p.Leu712Pro
p.Leu712Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2272/18335 2135/17388 712/5795 chr14 104953316
chr14:104953346 G
G
 A
A
 1 a0204
a0204
 1 HG02723.hp2
HG02723.hp2
 missense_variant MODERATE c.2105C>T
c.2105C>T
 p.Ala702Val
p.Ala702Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2242/18335 2105/17388 702/5795 chr14 104953346
chr14:104953391 G
G
 A
A
 1 a0055
a0055
 1 HG02109.hp1
HG02109.hp1
 missense_variant MODERATE c.2060C>T
c.2060C>T
 p.Ala687Val
p.Ala687Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2197/18335 2060/17388 687/5795 chr14 104953391
chr14:104953400 A
A
 G
G
 1 a0055
a0055
 1 HG02109.hp1
HG02109.hp1
 missense_variant MODERATE c.2051T>C
c.2051T>C
 p.Leu684Ser
p.Leu684Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2188/18335 2051/17388 684/5795 chr14 104953400
chr14:104953403 G
G
 A
A
 1 a0055
a0055
 1 HG02109.hp1
HG02109.hp1
 missense_variant MODERATE c.2048C>T
c.2048C>T
 p.Pro683Leu
p.Pro683Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2185/18335 2048/17388 683/5795 chr14 104953403
chr14:104953418 G
G
 C
C
 4 a0100
a0101
a0102
others(1): Show 
a0100
a0101
a0102
a0103
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 missense_variant MODERATE c.2033C>G
c.2033C>G
 p.Pro678Arg
p.Pro678Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2170/18335 2033/17388 678/5795 chr14 104953418
chr14:104953578 C
C
 T
T
 1 a0206
a0206
 1 HG03704.hp2
HG03704.hp2
 missense_variant MODERATE c.1873G>A
c.1873G>A
 p.Glu625Lys
p.Glu625Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2010/18335 1873/17388 625/5795 chr14 104953578
chr14:104953649 C
C
 T
T
 5 a0099
a0100
a0101
others(2): Show 
a0099
a0100
a0101
a0102
a0103
 5 HG00639.hp1
HG01891.hp2
HG02976.hp1
others(2): Show 
HG00639.hp1
HG01891.hp2
HG02976.hp1
NA19030.hp2
NA20300.hp2
 missense_variant MODERATE c.1802G>A
c.1802G>A
 p.Gly601Asp
p.Gly601Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1939/18335 1802/17388 601/5795 chr14 104953649
chr14:104953797 C
C
 T
T
 1 a0052
a0052
 2 HG01071.hp1
HG01081.hp1
HG01071.hp1
HG01081.hp1
 missense_variant MODERATE c.1654G>A
c.1654G>A
 p.Asp552Asn
p.Asp552Asn
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1791/18335 1654/17388 552/5795 chr14 104953797
chr14:104953878 T
T
 C
C
 59 a0004
a0006
a0009
others(56): Show 
a0004
a0006
a0009
a0010
a0016
a0017
a0018
a0019
a0020
a0026
a0027
a0028
a0053
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
a0207
a0211
 93 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(90): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 missense_variant MODERATE c.1573A>G
c.1573A>G
 p.Thr525Ala
p.Thr525Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1710/18335 1573/17388 525/5795 chr14 104953878
chr14:104954090 C
C
 G
G
 1 a0054
a0054
 1 HG01496.hp1
HG01496.hp1
 missense_variant MODERATE c.1361G>C
c.1361G>C
 p.Gly454Ala
p.Gly454Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1498/18335 1361/17388 454/5795 chr14 104954090
chr14:104954197 C
C
 A
A
 1 a0207
a0207
 1 HG03492.hp2
HG03492.hp2
 missense_variant MODERATE c.1254G>T
c.1254G>T
 p.Arg418Ser
p.Arg418Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1391/18335 1254/17388 418/5795 chr14 104954197
chr14:104954980 C
C
 T
T
 3 a0208
a0209
a0210
a0208
a0209
a0210
 3 HG02572.hp2
HG02615.hp2
HG02647.hp2
HG02572.hp2
HG02615.hp2
HG02647.hp2
 missense_variant MODERATE c.628G>A
c.628G>A
 p.Gly210Ser
p.Gly210Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 6/7 765/18335 628/17388 210/5795 chr14 104954980
chr14:104956635 G
G
 C
C
 1 a0053
a0053
 1 HG02602.hp2
HG02602.hp2
 missense_variant MODERATE c.268C>G
c.268C>G
 p.Arg90Gly
p.Arg90Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/7 405/18335 268/17388 90/5795 chr14 104956635
chr14:104956685 T
T
 A
A
 1 a0211
a0211
 1 NA18966.hp2
NA18966.hp2
 missense_variant MODERATE c.218A>T
c.218A>T
 p.Asp73Val
p.Asp73Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/7 355/18335 218/17388 73/5795 chr14 104956685
chr14:104957472 G
G
 A
A
 1 a0025
a0025
 3 HG00735.hp2
HG01109.hp2
HG03704.hp1
HG00735.hp2
HG01109.hp2
HG03704.hp1
 missense_variant MODERATE c.151C>T
c.151C>T
 p.Arg51Trp
p.Arg51Trp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/7 288/18335 151/17388 51/5795 chr14 104957472

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
chr14:104938126 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.17325C>T
c.17325C>T
 p.Pro5775Pro
p.Pro5775Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 17462/18335 17325/17388 5775/5795 chr14 104938126
chr14:104938756 A
A
 G
G
 1 a0003c0129
a0003c0129
 1 NA18747.hp1
NA18747.hp1
 synonymous_variant LOW c.16695T>C
c.16695T>C
 p.Asp5565Asp
p.Asp5565Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16832/18335 16695/17388 5565/5795 chr14 104938756
chr14:104938822 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.16629G>A
c.16629G>A
 p.Arg5543Arg
p.Arg5543Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16766/18335 16629/17388 5543/5795 chr14 104938822
chr14:104939605 G
G
 A
A
 133 a0001c0001
a0001c0003
a0001c0045
others(130): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.15846C>T
c.15846C>T
 p.Leu5282Leu
p.Leu5282Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15983/18335 15846/17388 5282/5795 chr14 104939605
chr14:104940460 C
C
 A
A
 1 a0123c0233
a0123c0233
 1 HG01074.hp2
HG01074.hp2
 synonymous_variant LOW c.14991G>T
c.14991G>T
 p.Pro4997Pro
p.Pro4997Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15128/18335 14991/17388 4997/5795 chr14 104940460
chr14:104940694 A
A
 G
G
 133 a0001c0001
a0001c0003
a0001c0045
others(130): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.14757T>C
c.14757T>C
 p.Ser4919Ser
p.Ser4919Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14894/18335 14757/17388 4919/5795 chr14 104940694
chr14:104940871 T
T
 C
C
 133 a0001c0001
a0001c0003
a0001c0045
others(130): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.14580A>G
c.14580A>G
 p.Val4860Val
p.Val4860Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14717/18335 14580/17388 4860/5795 chr14 104940871
chr14:104940985 A
A
 G
G
 1 a0003c0117
a0003c0117
 1 NA19077.hp2
NA19077.hp2
 synonymous_variant LOW c.14466T>C
c.14466T>C
 p.Leu4822Leu
p.Leu4822Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14603/18335 14466/17388 4822/5795 chr14 104940985
chr14:104941528 C
C
 T
T
 1 a0073c0171
a0073c0171
 1 HG02717.hp1
HG02717.hp1
 synonymous_variant LOW c.13923G>A
c.13923G>A
 p.Ser4641Ser
p.Ser4641Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 14060/18335 13923/17388 4641/5795 chr14 104941528
chr14:104941594 C
C
 T
T
 1 a0068c0169
a0068c0169
 1 HG02630.hp1
HG02630.hp1
 synonymous_variant LOW c.13857G>A
c.13857G>A
 p.Glu4619Glu
p.Glu4619Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13994/18335 13857/17388 4619/5795 chr14 104941594
chr14:104941693 A
A
 G
G
 133 a0001c0001
a0001c0003
a0001c0045
others(130): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.13758T>C
c.13758T>C
 p.Asp4586Asp
p.Asp4586Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13895/18335 13758/17388 4586/5795 chr14 104941693
chr14:104941933 G
G
 C
C
 8 a0015c0035
a0015c0122
a0015c0125
others(5): Show 
a0015c0035
a0015c0122
a0015c0125
a0046c0032
a0170c0105
a0179c0121
a0182c0128
a0183c0130
 10 HG00642.hp2
HG00738.hp1
HG01261.hp2
others(7): Show 
HG00642.hp2
HG00738.hp1
HG01261.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02148.hp2
HG02273.hp2
HG02300.hp1
 synonymous_variant LOW c.13518C>G
c.13518C>G
 p.Leu4506Leu
p.Leu4506Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13655/18335 13518/17388 4506/5795 chr14 104941933
chr14:104941978 T
T
 C
C
 133 a0001c0001
a0001c0003
a0001c0045
others(130): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 191 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(188): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.13473A>G
c.13473A>G
 p.Pro4491Pro
p.Pro4491Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13610/18335 13473/17388 4491/5795 chr14 104941978
chr14:104942005 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.13446C>T
c.13446C>T
 p.Ile4482Ile
p.Ile4482Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13583/18335 13446/17388 4482/5795 chr14 104942005
chr14:104942452 G
G
 A
A
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.12999C>T
c.12999C>T
 p.Ser4333Ser
p.Ser4333Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13136/18335 12999/17388 4333/5795 chr14 104942452
chr14:104942461 A
A
 G
G
 5 a0004c0157
a0004c0158
a0028c0019
others(2): Show 
a0004c0157
a0004c0158
a0028c0019
a0137c0094
a0138c0095
 6 HG00438.hp2
HG00558.hp1
HG02647.hp1
others(3): Show 
HG00438.hp2
HG00558.hp1
HG02647.hp1
HG02809.hp1
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.12990T>C
c.12990T>C
 p.Ala4330Ala
p.Ala4330Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13127/18335 12990/17388 4330/5795 chr14 104942461
chr14:104942500 G
G
 A
A
 1 a0208c0056
a0208c0056
 1 HG02647.hp2
HG02647.hp2
 synonymous_variant LOW c.12951C>T
c.12951C>T
 p.Ile4317Ile
p.Ile4317Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13088/18335 12951/17388 4317/5795 chr14 104942500
chr14:104942518 A
A
 T
T
 1 a0015c0122
a0015c0122
 1 HG01952.hp2
HG01952.hp2
 synonymous_variant LOW c.12933T>A
c.12933T>A
 p.Ser4311Ser
p.Ser4311Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13070/18335 12933/17388 4311/5795 chr14 104942518
chr14:104942530 C
C
 T
T
 1 a0045c0024
a0045c0024
 2 HG03139.hp1
NA18906.hp1
HG03139.hp1
NA18906.hp1
 synonymous_variant LOW c.12921G>A
c.12921G>A
 p.Ser4307Ser
p.Ser4307Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13058/18335 12921/17388 4307/5795 chr14 104942530
chr14:104942533 C
C
 T
T
 1 a0089c0196
a0089c0196
 1 HG03017.hp2
HG03017.hp2
 synonymous_variant LOW c.12918G>A
c.12918G>A
 p.Pro4306Pro
p.Pro4306Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13055/18335 12918/17388 4306/5795 chr14 104942533
chr14:104942548 G
G
 C
C
 1 a0089c0196
a0089c0196
 1 HG03017.hp2
HG03017.hp2
 synonymous_variant LOW c.12903C>G
c.12903C>G
 p.Pro4301Pro
p.Pro4301Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 13040/18335 12903/17388 4301/5795 chr14 104942548
chr14:104942647 G
G
 A
A
 2 a0037c0029
a0150c0082
a0037c0029
a0150c0082
 3 HG02055.hp1
HG02965.hp2
HG03139.hp2
HG02055.hp1
HG02965.hp2
HG03139.hp2
 synonymous_variant LOW c.12804C>T
c.12804C>T
 p.Val4268Val
p.Val4268Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12941/18335 12804/17388 4268/5795 chr14 104942647
chr14:104942650 G
G
 A
A
 2 a0023c0021
a0023c0072
a0023c0021
a0023c0072
 3 HG02132.hp2
HG02155.hp2
NA18747.hp2
HG02132.hp2
HG02155.hp2
NA18747.hp2
 synonymous_variant LOW c.12801C>T
c.12801C>T
 p.Asp4267Asp
p.Asp4267Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12938/18335 12801/17388 4267/5795 chr14 104942650
chr14:104942740 A
A
 G
G
 1 a0105c0211
a0105c0211
 1 HG00741.hp2
HG00741.hp2
 synonymous_variant LOW c.12711T>C
c.12711T>C
 p.Asp4237Asp
p.Asp4237Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12848/18335 12711/17388 4237/5795 chr14 104942740
chr14:104942932 C
C
 T
T
 3 a0061c0166
a0062c0167
a0098c0204
a0061c0166
a0062c0167
a0098c0204
 3 HG01884.hp1
HG02809.hp2
HG03453.hp1
HG01884.hp1
HG02809.hp2
HG03453.hp1
 synonymous_variant LOW c.12519G>A
c.12519G>A
 p.Gln4173Gln
p.Gln4173Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12656/18335 12519/17388 4173/5795 chr14 104942932
chr14:104943181 A
A
 G
G
 1 a0002c0112
a0002c0112
 1 NA19079.hp2
NA19079.hp2
 synonymous_variant LOW c.12270T>C
c.12270T>C
 p.Pro4090Pro
p.Pro4090Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12407/18335 12270/17388 4090/5795 chr14 104943181
chr14:104943463 T
T
 C
C
 2 a0028c0019
a0086c0188
a0028c0019
a0086c0188
 3 HG02896.hp1
HG02897.hp2
HG03942.hp1
HG02896.hp1
HG02897.hp2
HG03942.hp1
 synonymous_variant LOW c.11988A>G
c.11988A>G
 p.Pro3996Pro
p.Pro3996Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12125/18335 11988/17388 3996/5795 chr14 104943463
chr14:104943469 G
G
 A
A
 2 a0028c0019
a0086c0188
a0028c0019
a0086c0188
 3 HG02896.hp1
HG02897.hp2
HG03942.hp1
HG02896.hp1
HG02897.hp2
HG03942.hp1
 synonymous_variant LOW c.11982C>T
c.11982C>T
 p.Thr3994Thr
p.Thr3994Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12119/18335 11982/17388 3994/5795 chr14 104943469
chr14:104943481 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11970A>G
c.11970A>G
 p.Ser3990Ser
p.Ser3990Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12107/18335 11970/17388 3990/5795 chr14 104943481
chr14:104943484 T
T
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11967A>C
c.11967A>C
 p.Ala3989Ala
p.Ala3989Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12104/18335 11967/17388 3989/5795 chr14 104943484
chr14:104943508 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11943T>G
c.11943T>G
 p.Ser3981Ser
p.Ser3981Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12080/18335 11943/17388 3981/5795 chr14 104943508
chr14:104943520 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11931G>A
c.11931G>A
 p.Ser3977Ser
p.Ser3977Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12068/18335 11931/17388 3977/5795 chr14 104943520
chr14:104943523 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11928G>A
c.11928G>A
 p.Pro3976Pro
p.Pro3976Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12065/18335 11928/17388 3976/5795 chr14 104943523
chr14:104943565 C
C
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11886G>T
c.11886G>T
 p.Thr3962Thr
p.Thr3962Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12023/18335 11886/17388 3962/5795 chr14 104943565
chr14:104943565 C
C
 T
T
 1 a0001c0045
a0001c0045
 2 HG01256.hp1
HG01258.hp2
HG01256.hp1
HG01258.hp2
 synonymous_variant LOW c.11886G>A
c.11886G>A
 p.Thr3962Thr
p.Thr3962Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12023/18335 11886/17388 3962/5795 chr14 104943565
chr14:104943571 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11880C>T
c.11880C>T
 p.Asp3960Asp
p.Asp3960Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 12017/18335 11880/17388 3960/5795 chr14 104943571
chr14:104943622 G
G
 T
T
 134 a0001c0001
a0001c0003
a0001c0045
others(131): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0144c0238
a0149c0086
a0157c0080
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 192 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(189): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.11829C>A
c.11829C>A
 p.Ala3943Ala
p.Ala3943Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11966/18335 11829/17388 3943/5795 chr14 104943622
chr14:104943628 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11823A>G
c.11823A>G
 p.Pro3941Pro
p.Pro3941Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11960/18335 11823/17388 3941/5795 chr14 104943628
chr14:104943664 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.11787T>G
c.11787T>G
 p.Val3929Val
p.Val3929Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11924/18335 11787/17388 3929/5795 chr14 104943664
chr14:104943694 C
C
 T
T
 1 a0041c0083
a0041c0083
 1 HG01934.hp1
HG01934.hp1
 synonymous_variant LOW c.11757G>A
c.11757G>A
 p.Lys3919Lys
p.Lys3919Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11894/18335 11757/17388 3919/5795 chr14 104943694
chr14:104943943 A
A
 G
G
 1 a0160c0078
a0160c0078
 1 HG03041.hp1
HG03041.hp1
 synonymous_variant LOW c.11508T>C
c.11508T>C
 p.Asp3836Asp
p.Asp3836Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11645/18335 11508/17388 3836/5795 chr14 104943943
chr14:104943958 G
G
 C
C
 2 a0100c0062
a0101c0063
a0100c0062
a0101c0063
 2 HG00639.hp1
NA19030.hp2
HG00639.hp1
NA19030.hp2
 synonymous_variant LOW c.11493C>G
c.11493C>G
 p.Pro3831Pro
p.Pro3831Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11630/18335 11493/17388 3831/5795 chr14 104943958
chr14:104943970 G
G
 A
A
 1 a0182c0128
a0182c0128
 1 HG01993.hp1
HG01993.hp1
 synonymous_variant LOW c.11481C>T
c.11481C>T
 p.His3827His
p.His3827His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11618/18335 11481/17388 3827/5795 chr14 104943970
chr14:104944045 T
T
 C
C
 1 a0095c0197
a0095c0197
 1 NA19005.hp1
NA19005.hp1
 synonymous_variant LOW c.11406A>G
c.11406A>G
 p.Lys3802Lys
p.Lys3802Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11543/18335 11406/17388 3802/5795 chr14 104944045
chr14:104944432 A
A
 G
G
 2 a0063c0168
a0159c0141
a0063c0168
a0159c0141
 2 HG03130.hp2
HG06807.hp1
HG03130.hp2
HG06807.hp1
 synonymous_variant LOW c.11019T>C
c.11019T>C
 p.Ser3673Ser
p.Ser3673Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11156/18335 11019/17388 3673/5795 chr14 104944432
chr14:104944438 A
A
 G
G
 142 a0001c0001
a0001c0003
a0001c0045
others(139): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0036c0030
a0044c0049
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0063c0168
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0133c0097
a0144c0238
a0149c0086
a0150c0082
a0157c0080
a0159c0141
a0161c0079
a0169c0237
a0170c0105
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0191c0150
a0195c0243
a0196c0207
a0197c0057
a0203c0210
a0204c0053
a0205c0245
a0207c0206
a0208c0056
a0209c0054
a0210c0055
a0211c0247
 200 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(197): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.11013T>C
c.11013T>C
 p.Asp3671Asp
p.Asp3671Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11150/18335 11013/17388 3671/5795 chr14 104944438
chr14:104944510 T
T
 C
C
 3 a0044c0049
a0144c0238
a0169c0237
a0044c0049
a0144c0238
a0169c0237
 4 HG02896.hp2
HG02897.hp1
HG03225.hp2
others(1): Show 
HG02896.hp2
HG02897.hp1
HG03225.hp2
HG03486.hp1
 synonymous_variant LOW c.10941A>G
c.10941A>G
 p.Ser3647Ser
p.Ser3647Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11078/18335 10941/17388 3647/5795 chr14 104944510
chr14:104944561 G
G
 A
A
 2 a0082c0174
a0083c0176
a0082c0174
a0083c0176
 2 HG02055.hp2
NA18522.hp2
HG02055.hp2
NA18522.hp2
 synonymous_variant LOW c.10890C>T
c.10890C>T
 p.Asp3630Asp
p.Asp3630Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11027/18335 10890/17388 3630/5795 chr14 104944561
chr14:104944576 G
G
 A
A
 1 a0040c0038
a0040c0038
 2 HG00438.hp1
NA18998.hp1
HG00438.hp1
NA18998.hp1
 synonymous_variant LOW c.10875C>T
c.10875C>T
 p.Ser3625Ser
p.Ser3625Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 11012/18335 10875/17388 3625/5795 chr14 104944576
chr14:104944660 G
G
 A
A
 1 a0027c0190
a0027c0190
 1 HG02027.hp2
HG02027.hp2
 synonymous_variant LOW c.10791C>T
c.10791C>T
 p.Val3597Val
p.Val3597Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10928/18335 10791/17388 3597/5795 chr14 104944660
chr14:104944777 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10674A>G
c.10674A>G
 p.Lys3558Lys
p.Lys3558Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10811/18335 10674/17388 3558/5795 chr14 104944777
chr14:104944810 G
G
 A
A
 1 a0201c0154
a0201c0154
 1 HG02622.hp2
HG02622.hp2
 synonymous_variant LOW c.10641C>T
c.10641C>T
 p.Pro3547Pro
p.Pro3547Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10778/18335 10641/17388 3547/5795 chr14 104944810
chr14:104944816 G
G
 A
A
 37 a0001c0001
a0001c0003
a0001c0045
others(34): Show 
a0001c0001
a0001c0003
a0001c0045
a0011c0012
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0052c0208
a0052c0209
a0065c0203
a0100c0062
a0101c0063
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0115c0217
a0116c0229
a0118c0230
a0119c0228
a0120c0214
a0122c0213
a0123c0233
 63 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(60): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02572.hp1
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG02896.hp1
HG02897.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.10635C>T
c.10635C>T
 p.Pro3545Pro
p.Pro3545Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10772/18335 10635/17388 3545/5795 chr14 104944816
chr14:104944825 C
C
 T
T
 10 a0004c0005
a0004c0157
a0004c0158
others(7): Show 
a0004c0005
a0004c0157
a0004c0158
a0016c0041
a0016c0160
a0028c0019
a0056c0159
a0058c0155
a0059c0161
a0060c0162
 18 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(15): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 synonymous_variant LOW c.10626G>A
c.10626G>A
 p.Leu3542Leu
p.Leu3542Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10763/18335 10626/17388 3542/5795 chr14 104944825
chr14:104944837 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10614T>C
c.10614T>C
 p.Asp3538Asp
p.Asp3538Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10751/18335 10614/17388 3538/5795 chr14 104944837
chr14:104944870 G
G
 A
A
 5 a0026c0042
a0071c0177
a0072c0178
others(2): Show 
a0026c0042
a0071c0177
a0072c0178
a0073c0171
a0085c0172
 6 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(3): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG03041.hp2
 synonymous_variant LOW c.10581C>T
c.10581C>T
 p.Ser3527Ser
p.Ser3527Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10718/18335 10581/17388 3527/5795 chr14 104944870
chr14:104944903 G
G
 C
C
 1 a0084c0181
a0084c0181
 1 HG01175.hp2
HG01175.hp2
 synonymous_variant LOW c.10548C>G
c.10548C>G
 p.Leu3516Leu
p.Leu3516Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10685/18335 10548/17388 3516/5795 chr14 104944903
chr14:104944921 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10530C>T
c.10530C>T
 p.Ser3510Ser
p.Ser3510Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10667/18335 10530/17388 3510/5795 chr14 104944921
chr14:104944927 G
G
 A
A
 3 a0037c0029
a0122c0213
a0150c0082
a0037c0029
a0122c0213
a0150c0082
 4 HG02055.hp1
HG02965.hp2
HG03139.hp2
others(1): Show 
HG02055.hp1
HG02965.hp2
HG03139.hp2
NA19043.hp2
 synonymous_variant LOW c.10524C>T
c.10524C>T
 p.Ser3508Ser
p.Ser3508Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10661/18335 10524/17388 3508/5795 chr14 104944927
chr14:104944948 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10503G>A
c.10503G>A
 p.Pro3501Pro
p.Pro3501Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10640/18335 10503/17388 3501/5795 chr14 104944948
chr14:104944954 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10497T>C
c.10497T>C
 p.Ser3499Ser
p.Ser3499Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10634/18335 10497/17388 3499/5795 chr14 104944954
chr14:104944966 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10485G>A
c.10485G>A
 p.Ser3495Ser
p.Ser3495Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10622/18335 10485/17388 3495/5795 chr14 104944966
chr14:104944969 G
G
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10482C>A
c.10482C>A
 p.Ala3494Ala
p.Ala3494Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10619/18335 10482/17388 3494/5795 chr14 104944969
chr14:104944993 C
C
 A
A
 2 a0028c0019
a0204c0053
a0028c0019
a0204c0053
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10458G>T
c.10458G>T
 p.Ser3486Ser
p.Ser3486Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10595/18335 10458/17388 3486/5795 chr14 104944993
chr14:104945005 G
G
 C
C
 4 a0028c0019
a0157c0080
a0198c0152
others(1): Show 
a0028c0019
a0157c0080
a0198c0152
a0204c0053
 5 HG02723.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG03486.hp2
NA18954.hp2
 synonymous_variant LOW c.10446C>G
c.10446C>G
 p.Ser3482Ser
p.Ser3482Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10583/18335 10446/17388 3482/5795 chr14 104945005
chr14:104945008 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10443C>T
c.10443C>T
 p.Pro3481Pro
p.Pro3481Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10580/18335 10443/17388 3481/5795 chr14 104945008
chr14:104945008 G
G
 C
C
 3 a0028c0019
a0157c0080
a0198c0152
a0028c0019
a0157c0080
a0198c0152
 4 HG02896.hp1
HG02897.hp2
HG03486.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03486.hp2
NA18954.hp2
 synonymous_variant LOW c.10443C>G
c.10443C>G
 p.Pro3481Pro
p.Pro3481Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10580/18335 10443/17388 3481/5795 chr14 104945008
chr14:104945020 C
C
 T
T
 4 a0075c0164
a0076c0163
a0197c0057
others(1): Show 
a0075c0164
a0076c0163
a0197c0057
a0204c0053
 4 HG01884.hp2
HG02717.hp2
HG02723.hp2
others(1): Show 
HG01884.hp2
HG02717.hp2
HG02723.hp2
HG02922.hp2
 synonymous_variant LOW c.10431G>A
c.10431G>A
 p.Lys3477Lys
p.Lys3477Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10568/18335 10431/17388 3477/5795 chr14 104945020
chr14:104945050 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10401T>G
c.10401T>G
 p.Thr3467Thr
p.Thr3467Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10538/18335 10401/17388 3467/5795 chr14 104945050
chr14:104945056 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10395T>C
c.10395T>C
 p.Asp3465Asp
p.Asp3465Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10532/18335 10395/17388 3465/5795 chr14 104945056
chr14:104945065 A
A
 G
G
 3 a0028c0019
a0174c0110
a0204c0053
a0028c0019
a0174c0110
a0204c0053
 4 HG02723.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02723.hp2
HG02896.hp1
HG02897.hp2
NA19085.hp1
 synonymous_variant LOW c.10386T>C
c.10386T>C
 p.Ala3462Ala
p.Ala3462Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10523/18335 10386/17388 3462/5795 chr14 104945065
chr14:104945092 C
C
 T
T
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10359G>A
c.10359G>A
 p.Ala3453Ala
p.Ala3453Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10496/18335 10359/17388 3453/5795 chr14 104945092
chr14:104945103 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10348C>T
c.10348C>T
 p.Leu3450Leu
p.Leu3450Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10485/18335 10348/17388 3450/5795 chr14 104945103
chr14:104945113 C
C
 T
T
 2 a0028c0019
a0204c0053
a0028c0019
a0204c0053
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10338G>A
c.10338G>A
 p.Pro3446Pro
p.Pro3446Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10475/18335 10338/17388 3446/5795 chr14 104945113
chr14:104945125 G
G
 A
A
 1 a0003c0115
a0003c0115
 1 NA18970.hp2
NA18970.hp2
 synonymous_variant LOW c.10326C>T
c.10326C>T
 p.Asp3442Asp
p.Asp3442Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10463/18335 10326/17388 3442/5795 chr14 104945125
chr14:104945149 C
C
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10302G>T
c.10302G>T
 p.Val3434Val
p.Val3434Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10439/18335 10302/17388 3434/5795 chr14 104945149
chr14:104945158 A
A
 G
G
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10293T>C
c.10293T>C
 p.Asp3431Asp
p.Asp3431Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10430/18335 10293/17388 3431/5795 chr14 104945158
chr14:104945161 A
A
 G
G
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10290T>C
c.10290T>C
 p.Pro3430Pro
p.Pro3430Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10427/18335 10290/17388 3430/5795 chr14 104945161
chr14:104945167 T
T
 C
C
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10284A>G
c.10284A>G
 p.Thr3428Thr
p.Thr3428Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10421/18335 10284/17388 3428/5795 chr14 104945167
chr14:104945182 G
G
 C
C
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10269C>G
c.10269C>G
 p.Pro3423Pro
p.Pro3423Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10406/18335 10269/17388 3423/5795 chr14 104945182
chr14:104945191 T
T
 C
C
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10260A>G
c.10260A>G
 p.Leu3420Leu
p.Leu3420Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10397/18335 10260/17388 3420/5795 chr14 104945191
chr14:104945218 C
C
 T
T
 2 a0028c0019
a0204c0053
a0028c0019
a0204c0053
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10233G>A
c.10233G>A
 p.Val3411Val
p.Val3411Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10370/18335 10233/17388 3411/5795 chr14 104945218
chr14:104945221 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10230G>A
c.10230G>A
 p.Gln3410Gln
p.Gln3410Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10367/18335 10230/17388 3410/5795 chr14 104945221
chr14:104945224 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10227C>T
c.10227C>T
 p.Pro3409Pro
p.Pro3409Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10364/18335 10227/17388 3409/5795 chr14 104945224
chr14:104945236 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10215C>T
c.10215C>T
 p.Asp3405Asp
p.Asp3405Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10352/18335 10215/17388 3405/5795 chr14 104945236
chr14:104945239 C
C
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10212G>C
c.10212G>C
 p.Val3404Val
p.Val3404Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10349/18335 10212/17388 3404/5795 chr14 104945239
chr14:104945239 C
C
 T
T
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10212G>A
c.10212G>A
 p.Val3404Val
p.Val3404Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10349/18335 10212/17388 3404/5795 chr14 104945239
chr14:104945284 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10167G>A
c.10167G>A
 p.Gly3389Gly
p.Gly3389Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10304/18335 10167/17388 3389/5795 chr14 104945284
chr14:104945296 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10155T>C
c.10155T>C
 p.Ala3385Ala
p.Ala3385Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10292/18335 10155/17388 3385/5795 chr14 104945296
chr14:104945308 C
C
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10143G>T
c.10143G>T
 p.Val3381Val
p.Val3381Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10280/18335 10143/17388 3381/5795 chr14 104945308
chr14:104945320 C
C
 T
T
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10131G>A
c.10131G>A
 p.Pro3377Pro
p.Pro3377Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10268/18335 10131/17388 3377/5795 chr14 104945320
chr14:104945326 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10125G>A
c.10125G>A
 p.Lys3375Lys
p.Lys3375Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10262/18335 10125/17388 3375/5795 chr14 104945326
chr14:104945347 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10104G>A
c.10104G>A
 p.Gln3368Gln
p.Gln3368Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10241/18335 10104/17388 3368/5795 chr14 104945347
chr14:104945362 C
C
 G
G
 2 a0028c0019
a0204c0053
a0028c0019
a0204c0053
 3 HG02723.hp2
HG02896.hp1
HG02897.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.10089G>C
c.10089G>C
 p.Val3363Val
p.Val3363Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10226/18335 10089/17388 3363/5795 chr14 104945362
chr14:104945368 A
A
 G
G
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10083T>C
c.10083T>C
 p.Pro3361Pro
p.Pro3361Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10220/18335 10083/17388 3361/5795 chr14 104945368
chr14:104945398 G
G
 C
C
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.10053C>G
c.10053C>G
 p.Leu3351Leu
p.Leu3351Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10190/18335 10053/17388 3351/5795 chr14 104945398
chr14:104945470 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.9981C>T
c.9981C>T
 p.Ile3327Ile
p.Ile3327Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10118/18335 9981/17388 3327/5795 chr14 104945470
chr14:104945503 C
C
 A
A
 4 a0036c0030
a0064c0165
a0133c0097
others(1): Show 
a0036c0030
a0064c0165
a0133c0097
a0191c0150
 5 HG02280.hp1
HG02630.hp2
HG02922.hp1
others(2): Show 
HG02280.hp1
HG02630.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
 synonymous_variant LOW c.9948G>T
c.9948G>T
 p.Pro3316Pro
p.Pro3316Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10085/18335 9948/17388 3316/5795 chr14 104945503
chr14:104945515 T
T
 C
C
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.9936A>G
c.9936A>G
 p.Lys3312Lys
p.Lys3312Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10073/18335 9936/17388 3312/5795 chr14 104945515
chr14:104945560 G
G
 A
A
 1 a0009c0186
a0009c0186
 1 NA18986.hp1
NA18986.hp1
 synonymous_variant LOW c.9891C>T
c.9891C>T
 p.Ala3297Ala
p.Ala3297Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10028/18335 9891/17388 3297/5795 chr14 104945560
chr14:104945620 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.9831C>T
c.9831C>T
 p.Asp3277Asp
p.Asp3277Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9968/18335 9831/17388 3277/5795 chr14 104945620
chr14:104945668 A
A
 G
G
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.9783T>C
c.9783T>C
 p.Asp3261Asp
p.Asp3261Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9920/18335 9783/17388 3261/5795 chr14 104945668
chr14:104945677 C
C
 A
A
 1 a0006c0200
a0006c0200
 1 NA18984.hp2
NA18984.hp2
 synonymous_variant LOW c.9774G>T
c.9774G>T
 p.Pro3258Pro
p.Pro3258Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9911/18335 9774/17388 3258/5795 chr14 104945677
chr14:104945938 T
T
 C
C
 5 a0036c0030
a0064c0165
a0133c0097
others(2): Show 
a0036c0030
a0064c0165
a0133c0097
a0191c0150
a0204c0053
 6 HG02280.hp1
HG02630.hp2
HG02723.hp2
others(3): Show 
HG02280.hp1
HG02630.hp2
HG02723.hp2
HG02922.hp1
HG03130.hp1
HG03209.hp2
 synonymous_variant LOW c.9513A>G
c.9513A>G
 p.Pro3171Pro
p.Pro3171Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9650/18335 9513/17388 3171/5795 chr14 104945938
chr14:104945995 C
C
 T
T
 1 a0053c0246
a0053c0246
 1 HG02602.hp2
HG02602.hp2
 synonymous_variant LOW c.9456G>A
c.9456G>A
 p.Ser3152Ser
p.Ser3152Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9593/18335 9456/17388 3152/5795 chr14 104945995
chr14:104946205 A
A
 G
G
 127 a0001c0001
a0001c0003
a0001c0045
others(124): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0133c0097
a0149c0086
a0157c0080
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0211c0247
 183 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.9246T>C
c.9246T>C
 p.Asp3082Asp
p.Asp3082Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9383/18335 9246/17388 3082/5795 chr14 104946205
chr14:104946217 T
T
 G
G
 127 a0001c0001
a0001c0003
a0001c0045
others(124): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0133c0097
a0149c0086
a0157c0080
a0173c0114
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0195c0243
a0196c0207
a0203c0210
a0205c0245
a0207c0206
a0211c0247
 183 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(180): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.9234A>C
c.9234A>C
 p.Gly3078Gly
p.Gly3078Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9371/18335 9234/17388 3078/5795 chr14 104946217
chr14:104946412 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.9039C>T
c.9039C>T
 p.Ser3013Ser
p.Ser3013Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9176/18335 9039/17388 3013/5795 chr14 104946412
chr14:104946433 C
C
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.9018G>C
c.9018G>C
 p.Pro3006Pro
p.Pro3006Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9155/18335 9018/17388 3006/5795 chr14 104946433
chr14:104946436 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.9015G>A
c.9015G>A
 p.Ala3005Ala
p.Ala3005Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9152/18335 9015/17388 3005/5795 chr14 104946436
chr14:104946445 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.9006T>C
c.9006T>C
 p.Asp3002Asp
p.Asp3002Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9143/18335 9006/17388 3002/5795 chr14 104946445
chr14:104946487 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8964C>T
c.8964C>T
 p.Phe2988Phe
p.Phe2988Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9101/18335 8964/17388 2988/5795 chr14 104946487
chr14:104946490 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8961G>A
c.8961G>A
 p.Ser2987Ser
p.Ser2987Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9098/18335 8961/17388 2987/5795 chr14 104946490
chr14:104946520 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8931G>A
c.8931G>A
 p.Lys2977Lys
p.Lys2977Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9068/18335 8931/17388 2977/5795 chr14 104946520
chr14:104946553 C
C
 T
T
 2 a0026c0042
a0085c0172
a0026c0042
a0085c0172
 3 HG01255.hp2
HG02258.hp1
HG03041.hp2
HG01255.hp2
HG02258.hp1
HG03041.hp2
 synonymous_variant LOW c.8898G>A
c.8898G>A
 p.Leu2966Leu
p.Leu2966Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9035/18335 8898/17388 2966/5795 chr14 104946553
chr14:104946565 A
A
 C
C
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8886T>G
c.8886T>G
 p.Gly2962Gly
p.Gly2962Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9023/18335 8886/17388 2962/5795 chr14 104946565
chr14:104946588 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8863C>T
c.8863C>T
 p.Leu2955Leu
p.Leu2955Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 9000/18335 8863/17388 2955/5795 chr14 104946588
chr14:104946589 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8862G>A
c.8862G>A
 p.Lys2954Lys
p.Lys2954Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8999/18335 8862/17388 2954/5795 chr14 104946589
chr14:104946592 T
T
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8859A>C
c.8859A>C
 p.Ala2953Ala
p.Ala2953Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8996/18335 8859/17388 2953/5795 chr14 104946592
chr14:104946598 C
C
 T
T
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8853G>A
c.8853G>A
 p.Pro2951Pro
p.Pro2951Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8990/18335 8853/17388 2951/5795 chr14 104946598
chr14:104946610 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8841C>T
c.8841C>T
 p.Asp2947Asp
p.Asp2947Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8978/18335 8841/17388 2947/5795 chr14 104946610
chr14:104946643 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8808C>T
c.8808C>T
 p.Asp2936Asp
p.Asp2936Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8945/18335 8808/17388 2936/5795 chr14 104946643
chr14:104946646 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8805C>T
c.8805C>T
 p.Pro2935Pro
p.Pro2935Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8942/18335 8805/17388 2935/5795 chr14 104946646
chr14:104946652 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8799G>A
c.8799G>A
 p.Thr2933Thr
p.Thr2933Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8936/18335 8799/17388 2933/5795 chr14 104946652
chr14:104946655 C
C
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8796G>C
c.8796G>C
 p.Val2932Val
p.Val2932Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8933/18335 8796/17388 2932/5795 chr14 104946655
chr14:104946658 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8793G>A
c.8793G>A
 p.Glu2931Glu
p.Glu2931Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8930/18335 8793/17388 2931/5795 chr14 104946658
chr14:104946667 G
G
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8784C>G
c.8784C>G
 p.Pro2928Pro
p.Pro2928Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8921/18335 8784/17388 2928/5795 chr14 104946667
chr14:104946676 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8775G>A
c.8775G>A
 p.Leu2925Leu
p.Leu2925Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8912/18335 8775/17388 2925/5795 chr14 104946676
chr14:104946700 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8751C>T
c.8751C>T
 p.Asp2917Asp
p.Asp2917Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8888/18335 8751/17388 2917/5795 chr14 104946700
chr14:104946712 G
G
 T
T
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8739C>A
c.8739C>A
 p.Gly2913Gly
p.Gly2913Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8876/18335 8739/17388 2913/5795 chr14 104946712
chr14:104946721 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8730T>C
c.8730T>C
 p.Asp2910Asp
p.Asp2910Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8867/18335 8730/17388 2910/5795 chr14 104946721
chr14:104946724 C
C
 T
T
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8727G>A
c.8727G>A
 p.Val2909Val
p.Val2909Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8864/18335 8727/17388 2909/5795 chr14 104946724
chr14:104946781 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8670C>T
c.8670C>T
 p.Ala2890Ala
p.Ala2890Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8807/18335 8670/17388 2890/5795 chr14 104946781
chr14:104946793 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8658T>G
c.8658T>G
 p.Val2886Val
p.Val2886Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8795/18335 8658/17388 2886/5795 chr14 104946793
chr14:104946805 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8646A>G
c.8646A>G
 p.Pro2882Pro
p.Pro2882Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8783/18335 8646/17388 2882/5795 chr14 104946805
chr14:104946811 T
T
 C
C
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8640A>G
c.8640A>G
 p.Lys2880Lys
p.Lys2880Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8777/18335 8640/17388 2880/5795 chr14 104946811
chr14:104946817 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8634C>T
c.8634C>T
 p.Asp2878Asp
p.Asp2878Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8771/18335 8634/17388 2878/5795 chr14 104946817
chr14:104946850 G
G
 A
A
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8601C>T
c.8601C>T
 p.Ser2867Ser
p.Ser2867Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8738/18335 8601/17388 2867/5795 chr14 104946850
chr14:104946853 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8598C>T
c.8598C>T
 p.Pro2866Pro
p.Pro2866Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8735/18335 8598/17388 2866/5795 chr14 104946853
chr14:104946883 A
A
 C
C
 7 a0028c0019
a0064c0165
a0071c0177
others(4): Show 
a0028c0019
a0064c0165
a0071c0177
a0072c0178
a0130c0075
a0133c0097
a0196c0207
 8 HG01099.hp2
HG02257.hp1
HG02486.hp2
others(5): Show 
HG01099.hp2
HG02257.hp1
HG02486.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03130.hp1
 synonymous_variant LOW c.8568T>G
c.8568T>G
 p.Leu2856Leu
p.Leu2856Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8705/18335 8568/17388 2856/5795 chr14 104946883
chr14:104946886 A
A
 G
G
 122 a0001c0001
a0001c0003
a0001c0045
others(119): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0074c0179
a0078c0175
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0132c0236
a0133c0097
a0142c0085
a0149c0086
a0157c0080
a0170c0105
a0173c0114
a0179c0121
a0182c0128
a0183c0130
a0191c0150
a0195c0243
a0196c0207
a0203c0210
a0207c0206
a0211c0247
 178 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(175): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02273.hp2
HG02280.hp1
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.8565T>C
c.8565T>C
 p.Asp2855Asp
p.Asp2855Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8702/18335 8565/17388 2855/5795 chr14 104946886
chr14:104946892 T
T
 C
C
 7 a0028c0019
a0064c0165
a0071c0177
others(4): Show 
a0028c0019
a0064c0165
a0071c0177
a0072c0178
a0130c0075
a0133c0097
a0196c0207
 8 HG01099.hp2
HG02257.hp1
HG02486.hp2
others(5): Show 
HG01099.hp2
HG02257.hp1
HG02486.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03130.hp1
 synonymous_variant LOW c.8559A>G
c.8559A>G
 p.Gln2853Gln
p.Gln2853Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8696/18335 8559/17388 2853/5795 chr14 104946892
chr14:104946907 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8544C>T
c.8544C>T
 p.Ser2848Ser
p.Ser2848Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8681/18335 8544/17388 2848/5795 chr14 104946907
chr14:104946916 A
A
 G
G
 7 a0028c0019
a0064c0165
a0069c0184
others(4): Show 
a0028c0019
a0064c0165
a0069c0184
a0070c0170
a0080c0180
a0081c0173
a0133c0097
 8 HG01167.hp2
HG02630.hp2
HG02896.hp1
others(5): Show 
HG01167.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
NA20129.hp1
 synonymous_variant LOW c.8535T>C
c.8535T>C
 p.Ala2845Ala
p.Ala2845Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8672/18335 8535/17388 2845/5795 chr14 104946916
chr14:104946919 T
T
 C
C
 4 a0005c0091
a0064c0165
a0110c0221
others(1): Show 
a0005c0091
a0064c0165
a0110c0221
a0133c0097
 4 HG02109.hp2
HG02630.hp2
HG02738.hp1
others(1): Show 
HG02109.hp2
HG02630.hp2
HG02738.hp1
HG03130.hp1
 synonymous_variant LOW c.8532A>G
c.8532A>G
 p.Glu2844Glu
p.Glu2844Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8669/18335 8532/17388 2844/5795 chr14 104946919
chr14:104946928 C
C
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8523G>C
c.8523G>C
 p.Leu2841Leu
p.Leu2841Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8660/18335 8523/17388 2841/5795 chr14 104946928
chr14:104946931 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8520G>A
c.8520G>A
 p.Glu2840Glu
p.Glu2840Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8657/18335 8520/17388 2840/5795 chr14 104946931
chr14:104946955 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8496C>T
c.8496C>T
 p.Ile2832Ile
p.Ile2832Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8633/18335 8496/17388 2832/5795 chr14 104946955
chr14:104946964 G
G
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8487C>G
c.8487C>G
 p.Gly2829Gly
p.Gly2829Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8624/18335 8487/17388 2829/5795 chr14 104946964
chr14:104946973 C
C
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8478G>T
c.8478G>T
 p.Ser2826Ser
p.Ser2826Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8615/18335 8478/17388 2826/5795 chr14 104946973
chr14:104946976 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8475G>A
c.8475G>A
 p.Val2825Val
p.Val2825Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8612/18335 8475/17388 2825/5795 chr14 104946976
chr14:104946985 T
T
 C
C
 6 a0064c0165
a0077c0182
a0078c0175
others(3): Show 
a0064c0165
a0077c0182
a0078c0175
a0079c0183
a0131c0235
a0133c0097
 6 HG02258.hp2
HG02451.hp1
HG02630.hp2
others(3): Show 
HG02258.hp2
HG02451.hp1
HG02630.hp2
HG03098.hp1
HG03130.hp1
HG03471.hp1
 synonymous_variant LOW c.8466A>G
c.8466A>G
 p.Ser2822Ser
p.Ser2822Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8603/18335 8466/17388 2822/5795 chr14 104946985
chr14:104946988 C
C
 T
T
 9 a0006c0200
a0044c0049
a0051c0051
others(6): Show 
a0006c0200
a0044c0049
a0051c0051
a0055c0205
a0065c0203
a0068c0169
a0144c0238
a0169c0237
a0189c0073
 11 HG01167.hp1
HG01169.hp1
HG02109.hp1
others(8): Show 
HG01167.hp1
HG01169.hp1
HG02109.hp1
HG02630.hp1
HG02896.hp2
HG02897.hp1
HG02965.hp1
HG03225.hp2
HG03486.hp1
HG03942.hp2
NA18984.hp2
 synonymous_variant LOW c.8463G>A
c.8463G>A
 p.Pro2821Pro
p.Pro2821Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8600/18335 8463/17388 2821/5795 chr14 104946988
chr14:104947000 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8451G>A
c.8451G>A
 p.Lys2817Lys
p.Lys2817Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8588/18335 8451/17388 2817/5795 chr14 104947000
chr14:104947021 G
G
 A
A
 1 a0197c0057
a0197c0057
 1 HG02922.hp2
HG02922.hp2
 synonymous_variant LOW c.8430C>T
c.8430C>T
 p.Asp2810Asp
p.Asp2810Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8567/18335 8430/17388 2810/5795 chr14 104947021
chr14:104947030 T
T
 A
A
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8421A>T
c.8421A>T
 p.Thr2807Thr
p.Thr2807Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8558/18335 8421/17388 2807/5795 chr14 104947030
chr14:104947036 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8415C>T
c.8415C>T
 p.Gly2805Gly
p.Gly2805Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8552/18335 8415/17388 2805/5795 chr14 104947036
chr14:104947045 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8406C>T
c.8406C>T
 p.Ala2802Ala
p.Ala2802Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8543/18335 8406/17388 2802/5795 chr14 104947045
chr14:104947060 C
C
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8391G>T
c.8391G>T
 p.Gly2797Gly
p.Gly2797Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8528/18335 8391/17388 2797/5795 chr14 104947060
chr14:104947060 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8391G>A
c.8391G>A
 p.Gly2797Gly
p.Gly2797Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8528/18335 8391/17388 2797/5795 chr14 104947060
chr14:104947072 C
C
 T
T
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8379G>A
c.8379G>A
 p.Ala2793Ala
p.Ala2793Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8516/18335 8379/17388 2793/5795 chr14 104947072
chr14:104947087 T
T
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8364A>C
c.8364A>C
 p.Ala2788Ala
p.Ala2788Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8501/18335 8364/17388 2788/5795 chr14 104947087
chr14:104947090 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8361A>G
c.8361A>G
 p.Arg2787Arg
p.Arg2787Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8498/18335 8361/17388 2787/5795 chr14 104947090
chr14:104947105 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8346C>T
c.8346C>T
 p.Asp2782Asp
p.Asp2782Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8483/18335 8346/17388 2782/5795 chr14 104947105
chr14:104947135 C
C
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8316G>C
c.8316G>C
 p.Val2772Val
p.Val2772Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8453/18335 8316/17388 2772/5795 chr14 104947135
chr14:104947138 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8313T>C
c.8313T>C
 p.Asp2771Asp
p.Asp2771Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8450/18335 8313/17388 2771/5795 chr14 104947138
chr14:104947147 T
T
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8304A>G
c.8304A>G
 p.Thr2768Thr
p.Thr2768Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8441/18335 8304/17388 2768/5795 chr14 104947147
chr14:104947153 T
T
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8298A>G
c.8298A>G
 p.Glu2766Glu
p.Glu2766Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8435/18335 8298/17388 2766/5795 chr14 104947153
chr14:104947156 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8295G>A
c.8295G>A
 p.Ala2765Ala
p.Ala2765Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8432/18335 8295/17388 2765/5795 chr14 104947156
chr14:104947192 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8259T>C
c.8259T>C
 p.Val2753Val
p.Val2753Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8396/18335 8259/17388 2753/5795 chr14 104947192
chr14:104947195 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8256T>C
c.8256T>C
 p.Asp2752Asp
p.Asp2752Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8393/18335 8256/17388 2752/5795 chr14 104947195
chr14:104947216 G
G
 A
A
 3 a0064c0165
a0068c0169
a0133c0097
a0064c0165
a0068c0169
a0133c0097
 3 HG02630.hp1
HG02630.hp2
HG03130.hp1
HG02630.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8235C>T
c.8235C>T
 p.Asp2745Asp
p.Asp2745Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8372/18335 8235/17388 2745/5795 chr14 104947216
chr14:104947219 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8232G>A
c.8232G>A
 p.Val2744Val
p.Val2744Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8369/18335 8232/17388 2744/5795 chr14 104947219
chr14:104947225 A
A
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8226T>C
c.8226T>C
 p.Pro2742Pro
p.Pro2742Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8363/18335 8226/17388 2742/5795 chr14 104947225
chr14:104947251 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8200C>T
c.8200C>T
 p.Leu2734Leu
p.Leu2734Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8337/18335 8200/17388 2734/5795 chr14 104947251
chr14:104947252 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8199G>A
c.8199G>A
 p.Lys2733Lys
p.Lys2733Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8336/18335 8199/17388 2733/5795 chr14 104947252
chr14:104947276 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8175C>T
c.8175C>T
 p.Ala2725Ala
p.Ala2725Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8312/18335 8175/17388 2725/5795 chr14 104947276
chr14:104947288 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8163T>G
c.8163T>G
 p.Val2721Val
p.Val2721Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8300/18335 8163/17388 2721/5795 chr14 104947288
chr14:104947300 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8151A>G
c.8151A>G
 p.Pro2717Pro
p.Pro2717Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8288/18335 8151/17388 2717/5795 chr14 104947300
chr14:104947306 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8145A>G
c.8145A>G
 p.Lys2715Lys
p.Lys2715Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8282/18335 8145/17388 2715/5795 chr14 104947306
chr14:104947312 A
A
 G
G
 4 a0064c0165
a0099c0061
a0133c0097
others(1): Show 
a0064c0165
a0099c0061
a0133c0097
a0201c0154
 4 HG01891.hp2
HG02622.hp2
HG02630.hp2
others(1): Show 
HG01891.hp2
HG02622.hp2
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.8139T>C
c.8139T>C
 p.Asp2713Asp
p.Asp2713Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8276/18335 8139/17388 2713/5795 chr14 104947312
chr14:104947318 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8133G>A
c.8133G>A
 p.Gln2711Gln
p.Gln2711Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8270/18335 8133/17388 2711/5795 chr14 104947318
chr14:104947342 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8109C>T
c.8109C>T
 p.Ala2703Ala
p.Ala2703Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8246/18335 8109/17388 2703/5795 chr14 104947342
chr14:104947345 A
A
 G
G
 2 a0028c0019
a0064c0165
a0028c0019
a0064c0165
 3 HG02896.hp1
HG02897.hp2
HG03130.hp1
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8106T>C
c.8106T>C
 p.Ser2702Ser
p.Ser2702Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8243/18335 8106/17388 2702/5795 chr14 104947345
chr14:104947348 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8103C>T
c.8103C>T
 p.Pro2701Pro
p.Pro2701Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8240/18335 8103/17388 2701/5795 chr14 104947348
chr14:104947378 A
A
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8073T>G
c.8073T>G
 p.Leu2691Leu
p.Leu2691Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8210/18335 8073/17388 2691/5795 chr14 104947378
chr14:104947378 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8073T>C
c.8073T>C
 p.Leu2691Leu
p.Leu2691Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8210/18335 8073/17388 2691/5795 chr14 104947378
chr14:104947381 G
G
 A
A
 2 a0064c0165
a0099c0061
a0064c0165
a0099c0061
 2 HG01891.hp2
HG03130.hp1
HG01891.hp2
HG03130.hp1
 synonymous_variant LOW c.8070C>T
c.8070C>T
 p.Asp2690Asp
p.Asp2690Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8207/18335 8070/17388 2690/5795 chr14 104947381
chr14:104947387 T
T
 C
C
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8064A>G
c.8064A>G
 p.Gln2688Gln
p.Gln2688Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8201/18335 8064/17388 2688/5795 chr14 104947387
chr14:104947411 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.8040C>T
c.8040C>T
 p.Ala2680Ala
p.Ala2680Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8177/18335 8040/17388 2680/5795 chr14 104947411
chr14:104947414 T
T
 C
C
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.8037A>G
c.8037A>G
 p.Glu2679Glu
p.Glu2679Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8174/18335 8037/17388 2679/5795 chr14 104947414
chr14:104947444 C
C
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.8007G>C
c.8007G>C
 p.Ala2669Ala
p.Ala2669Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8144/18335 8007/17388 2669/5795 chr14 104947444
chr14:104947450 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.8001C>T
c.8001C>T
 p.Ile2667Ile
p.Ile2667Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8138/18335 8001/17388 2667/5795 chr14 104947450
chr14:104947453 G
G
 A
A
 63 a0001c0001
a0001c0003
a0001c0045
others(60): Show 
a0001c0001
a0001c0003
a0001c0045
a0011c0012
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0052c0208
a0052c0209
a0055c0205
a0061c0166
a0062c0167
a0067c0058
a0068c0169
a0071c0177
a0072c0178
a0073c0171
a0085c0172
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0157c0080
a0195c0243
a0196c0207
a0203c0210
a0205c0245
 91 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02109.hp1
HG02129.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02738.hp1
HG02809.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp2
HG03225.hp1
HG03453.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.7998C>T
c.7998C>T
 p.Ser2666Ser
p.Ser2666Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8135/18335 7998/17388 2666/5795 chr14 104947453
chr14:104947468 C
C
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7983G>T
c.7983G>T
 p.Ser2661Ser
p.Ser2661Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8120/18335 7983/17388 2661/5795 chr14 104947468
chr14:104947480 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7971A>G
c.7971A>G
 p.Ser2657Ser
p.Ser2657Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8108/18335 7971/17388 2657/5795 chr14 104947480
chr14:104947480 T
T
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7971A>C
c.7971A>C
 p.Ser2657Ser
p.Ser2657Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8108/18335 7971/17388 2657/5795 chr14 104947480
chr14:104947483 T
T
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7968A>G
c.7968A>G
 p.Pro2656Pro
p.Pro2656Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8105/18335 7968/17388 2656/5795 chr14 104947483
chr14:104947483 T
T
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7968A>C
c.7968A>C
 p.Pro2656Pro
p.Pro2656Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8105/18335 7968/17388 2656/5795 chr14 104947483
chr14:104947516 A
A
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7935T>C
c.7935T>C
 p.Asp2645Asp
p.Asp2645Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8072/18335 7935/17388 2645/5795 chr14 104947516
chr14:104947525 T
T
 A
A
 4 a0028c0019
a0069c0184
a0080c0180
others(1): Show 
a0028c0019
a0069c0184
a0080c0180
a0133c0097
 5 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.7926A>T
c.7926A>T
 p.Thr2642Thr
p.Thr2642Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8063/18335 7926/17388 2642/5795 chr14 104947525
chr14:104947531 A
A
 C
C
 2 a0069c0184
a0080c0180
a0069c0184
a0080c0180
 2 HG03195.hp2
NA20129.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.7920T>G
c.7920T>G
 p.Gly2640Gly
p.Gly2640Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8057/18335 7920/17388 2640/5795 chr14 104947531
chr14:104947531 A
A
 G
G
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7920T>C
c.7920T>C
 p.Gly2640Gly
p.Gly2640Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8057/18335 7920/17388 2640/5795 chr14 104947531
chr14:104947540 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7911C>T
c.7911C>T
 p.Ala2637Ala
p.Ala2637Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8048/18335 7911/17388 2637/5795 chr14 104947540
chr14:104947567 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7884G>A
c.7884G>A
 p.Ala2628Ala
p.Ala2628Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8021/18335 7884/17388 2628/5795 chr14 104947567
chr14:104947578 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7873C>T
c.7873C>T
 p.Leu2625Leu
p.Leu2625Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8010/18335 7873/17388 2625/5795 chr14 104947578
chr14:104947582 T
T
 G
G
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7869A>C
c.7869A>C
 p.Ala2623Ala
p.Ala2623Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8006/18335 7869/17388 2623/5795 chr14 104947582
chr14:104947588 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7863G>A
c.7863G>A
 p.Pro2621Pro
p.Pro2621Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 8000/18335 7863/17388 2621/5795 chr14 104947588
chr14:104947600 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7851C>T
c.7851C>T
 p.Asp2617Asp
p.Asp2617Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7988/18335 7851/17388 2617/5795 chr14 104947600
chr14:104947633 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7818T>C
c.7818T>C
 p.Asp2606Asp
p.Asp2606Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7955/18335 7818/17388 2606/5795 chr14 104947633
chr14:104947636 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7815C>T
c.7815C>T
 p.Pro2605Pro
p.Pro2605Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7952/18335 7815/17388 2605/5795 chr14 104947636
chr14:104947642 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7809A>G
c.7809A>G
 p.Thr2603Thr
p.Thr2603Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7946/18335 7809/17388 2603/5795 chr14 104947642
chr14:104947657 G
G
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7794C>G
c.7794C>G
 p.Pro2598Pro
p.Pro2598Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7931/18335 7794/17388 2598/5795 chr14 104947657
chr14:104947666 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7785G>A
c.7785G>A
 p.Leu2595Leu
p.Leu2595Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7922/18335 7785/17388 2595/5795 chr14 104947666
chr14:104947687 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7764C>T
c.7764C>T
 p.Val2588Val
p.Val2588Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7901/18335 7764/17388 2588/5795 chr14 104947687
chr14:104947690 A
A
 G
G
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7761T>C
c.7761T>C
 p.Asp2587Asp
p.Asp2587Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7898/18335 7761/17388 2587/5795 chr14 104947690
chr14:104947693 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7758A>G
c.7758A>G
 p.Leu2586Leu
p.Leu2586Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7895/18335 7758/17388 2586/5795 chr14 104947693
chr14:104947711 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7740C>T
c.7740C>T
 p.Asp2580Asp
p.Asp2580Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7877/18335 7740/17388 2580/5795 chr14 104947711
chr14:104947720 A
A
 G
G
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7731T>C
c.7731T>C
 p.Pro2577Pro
p.Pro2577Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7868/18335 7731/17388 2577/5795 chr14 104947720
chr14:104947771 G
G
 A
A
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7680C>T
c.7680C>T
 p.Ala2560Ala
p.Ala2560Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7817/18335 7680/17388 2560/5795 chr14 104947771
chr14:104947780 C
C
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7671G>C
c.7671G>C
 p.Pro2557Pro
p.Pro2557Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7808/18335 7671/17388 2557/5795 chr14 104947780
chr14:104947780 C
C
 T
T
 4 a0074c0179
a0075c0164
a0076c0163
others(1): Show 
a0074c0179
a0075c0164
a0076c0163
a0197c0057
 4 HG01884.hp2
HG02717.hp2
HG02922.hp2
others(1): Show 
HG01884.hp2
HG02717.hp2
HG02922.hp2
NA20129.hp2
 synonymous_variant LOW c.7671G>A
c.7671G>A
 p.Pro2557Pro
p.Pro2557Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7808/18335 7671/17388 2557/5795 chr14 104947780
chr14:104947783 C
C
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7668G>T
c.7668G>T
 p.Val2556Val
p.Val2556Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7805/18335 7668/17388 2556/5795 chr14 104947783
chr14:104947786 A
A
 G
G
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7665T>C
c.7665T>C
 p.Pro2555Pro
p.Pro2555Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7802/18335 7665/17388 2555/5795 chr14 104947786
chr14:104947795 T
T
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7656A>G
c.7656A>G
 p.Pro2552Pro
p.Pro2552Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7793/18335 7656/17388 2552/5795 chr14 104947795
chr14:104947801 T
T
 C
C
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7650A>G
c.7650A>G
 p.Lys2550Lys
p.Lys2550Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7787/18335 7650/17388 2550/5795 chr14 104947801
chr14:104947807 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7644C>T
c.7644C>T
 p.Asp2548Asp
p.Asp2548Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7781/18335 7644/17388 2548/5795 chr14 104947807
chr14:104947813 T
T
 C
C
 3 a0028c0019
a0064c0165
a0133c0097
a0028c0019
a0064c0165
a0133c0097
 4 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7638A>G
c.7638A>G
 p.Gln2546Gln
p.Gln2546Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7775/18335 7638/17388 2546/5795 chr14 104947813
chr14:104947837 A
A
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7614T>G
c.7614T>G
 p.Ala2538Ala
p.Ala2538Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7751/18335 7614/17388 2538/5795 chr14 104947837
chr14:104947837 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7614T>C
c.7614T>C
 p.Ala2538Ala
p.Ala2538Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7751/18335 7614/17388 2538/5795 chr14 104947837
chr14:104947840 G
G
 A
A
 4 a0028c0019
a0064c0165
a0130c0075
others(1): Show 
a0028c0019
a0064c0165
a0130c0075
a0133c0097
 5 HG02630.hp2
HG02896.hp1
HG02897.hp2
others(2): Show 
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03130.hp1
 synonymous_variant LOW c.7611C>T
c.7611C>T
 p.Ser2537Ser
p.Ser2537Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7748/18335 7611/17388 2537/5795 chr14 104947840
chr14:104947843 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7608T>C
c.7608T>C
 p.Pro2536Pro
p.Pro2536Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7745/18335 7608/17388 2536/5795 chr14 104947843
chr14:104947873 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7578C>T
c.7578C>T
 p.Leu2526Leu
p.Leu2526Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7715/18335 7578/17388 2526/5795 chr14 104947873
chr14:104947873 G
G
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7578C>G
c.7578C>G
 p.Leu2526Leu
p.Leu2526Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7715/18335 7578/17388 2526/5795 chr14 104947873
chr14:104947882 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7569G>A
c.7569G>A
 p.Gln2523Gln
p.Gln2523Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7706/18335 7569/17388 2523/5795 chr14 104947882
chr14:104947909 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7542G>A
c.7542G>A
 p.Glu2514Glu
p.Glu2514Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7679/18335 7542/17388 2514/5795 chr14 104947909
chr14:104947915 C
C
 T
T
 98 a0001c0001
a0001c0003
a0001c0045
others(95): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0027c0189
a0027c0190
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0105c0211
a0108c0218
a0110c0221
a0111c0232
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0131c0235
a0132c0236
a0149c0086
a0157c0080
a0173c0114
a0180c0120
a0195c0243
a0203c0210
a0205c0245
a0207c0206
a0211c0247
 147 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(144): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.7536G>A
c.7536G>A
 p.Lys2512Lys
p.Lys2512Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7673/18335 7536/17388 2512/5795 chr14 104947915
chr14:104947936 C
C
 T
T
 1 a0147c0088
a0147c0088
 1 HG03017.hp1
HG03017.hp1
 synonymous_variant LOW c.7515G>A
c.7515G>A
 p.Ser2505Ser
p.Ser2505Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7652/18335 7515/17388 2505/5795 chr14 104947936
chr14:104947939 G
G
 C
C
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7512C>G
c.7512C>G
 p.Ala2504Ala
p.Ala2504Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7649/18335 7512/17388 2504/5795 chr14 104947939
chr14:104947945 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7506C>T
c.7506C>T
 p.Ile2502Ile
p.Ile2502Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7643/18335 7506/17388 2502/5795 chr14 104947945
chr14:104947963 A
A
 C
C
 5 a0057c0156
a0064c0165
a0102c0064
others(2): Show 
a0057c0156
a0064c0165
a0102c0064
a0103c0065
a0173c0114
 5 HG02976.hp1
HG03130.hp1
NA18951.hp1
others(2): Show 
HG02976.hp1
HG03130.hp1
NA18951.hp1
NA18999.hp2
NA20300.hp2
 synonymous_variant LOW c.7488T>G
c.7488T>G
 p.Ser2496Ser
p.Ser2496Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7625/18335 7488/17388 2496/5795 chr14 104947963
chr14:104947966 C
C
 T
T
 2 a0102c0064
a0103c0065
a0102c0064
a0103c0065
 2 HG02976.hp1
NA20300.hp2
HG02976.hp1
NA20300.hp2
 synonymous_variant LOW c.7485G>A
c.7485G>A
 p.Val2495Val
p.Val2495Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7622/18335 7485/17388 2495/5795 chr14 104947966
chr14:104947972 G
G
 A
A
 1 a0136c0140
a0136c0140
 1 HG04184.hp2
HG04184.hp2
 synonymous_variant LOW c.7479C>T
c.7479C>T
 p.Phe2493Phe
p.Phe2493Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7616/18335 7479/17388 2493/5795 chr14 104947972
chr14:104947975 T
T
 C
C
 22 a0002c0113
a0011c0012
a0015c0035
others(19): Show 
a0002c0113
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0028c0019
a0029c0047
a0034c0048
a0046c0032
a0087c0187
a0097c0201
a0107c0234
a0132c0236
a0133c0097
a0147c0088
a0155c0084
a0170c0105
a0179c0121
a0182c0128
a0183c0130
a0195c0243
a0204c0053
 30 HG00642.hp2
HG00738.hp1
HG01256.hp2
others(27): Show 
HG00642.hp2
HG00738.hp1
HG01256.hp2
HG01261.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02040.hp2
HG02148.hp2
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02630.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp1
HG03098.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
NA18953.hp1
NA18986.hp2
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
 synonymous_variant LOW c.7476A>G
c.7476A>G
 p.Ser2492Ser
p.Ser2492Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7613/18335 7476/17388 2492/5795 chr14 104947975
chr14:104947975 T
T
 G
G
 1 a0057c0156
a0057c0156
 1 NA18951.hp1
NA18951.hp1
 synonymous_variant LOW c.7476A>C
c.7476A>C
 p.Ser2492Ser
p.Ser2492Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7613/18335 7476/17388 2492/5795 chr14 104947975
chr14:104947978 C
C
 G
G
 1 a0057c0156
a0057c0156
 1 NA18951.hp1
NA18951.hp1
 synonymous_variant LOW c.7473G>C
c.7473G>C
 p.Pro2491Pro
p.Pro2491Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7610/18335 7473/17388 2491/5795 chr14 104947978
chr14:104947978 C
C
 T
T
 2 a0022c0215
a0064c0165
a0022c0215
a0064c0165
 2 HG03130.hp1
HG03654.hp1
HG03130.hp1
HG03654.hp1
 synonymous_variant LOW c.7473G>A
c.7473G>A
 p.Pro2491Pro
p.Pro2491Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7610/18335 7473/17388 2491/5795 chr14 104947978
chr14:104947990 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7461G>A
c.7461G>A
 p.Lys2487Lys
p.Lys2487Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7598/18335 7461/17388 2487/5795 chr14 104947990
chr14:104948011 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7440C>T
c.7440C>T
 p.Asp2480Asp
p.Asp2480Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7577/18335 7440/17388 2480/5795 chr14 104948011
chr14:104948020 A
A
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7431T>A
c.7431T>A
 p.Thr2477Thr
p.Thr2477Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7568/18335 7431/17388 2477/5795 chr14 104948020
chr14:104948035 C
C
 G
G
 5 a0028c0019
a0048c0034
a0064c0165
others(2): Show 
a0028c0019
a0048c0034
a0064c0165
a0133c0097
a0175c0116
 7 HG00733.hp2
HG01123.hp2
HG01934.hp2
others(4): Show 
HG00733.hp2
HG01123.hp2
HG01934.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7416G>C
c.7416G>C
 p.Ala2472Ala
p.Ala2472Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7553/18335 7416/17388 2472/5795 chr14 104948035
chr14:104948041 A
A
 G
G
 5 a0028c0019
a0048c0034
a0064c0165
others(2): Show 
a0028c0019
a0048c0034
a0064c0165
a0133c0097
a0175c0116
 7 HG00733.hp2
HG01123.hp2
HG01934.hp2
others(4): Show 
HG00733.hp2
HG01123.hp2
HG01934.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03130.hp1
 synonymous_variant LOW c.7410T>C
c.7410T>C
 p.Ser2470Ser
p.Ser2470Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7547/18335 7410/17388 2470/5795 chr14 104948041
chr14:104948062 C
C
 T
T
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7389G>A
c.7389G>A
 p.Ala2463Ala
p.Ala2463Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7526/18335 7389/17388 2463/5795 chr14 104948062
chr14:104948073 G
G
 A
A
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7378C>T
c.7378C>T
 p.Leu2460Leu
p.Leu2460Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7515/18335 7378/17388 2460/5795 chr14 104948073
chr14:104948077 G
G
 A
A
 3 a0036c0030
a0191c0150
a0204c0053
a0036c0030
a0191c0150
a0204c0053
 4 HG02280.hp1
HG02723.hp2
HG02922.hp1
others(1): Show 
HG02280.hp1
HG02723.hp2
HG02922.hp1
HG03209.hp2
 synonymous_variant LOW c.7374C>T
c.7374C>T
 p.Ala2458Ala
p.Ala2458Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7511/18335 7374/17388 2458/5795 chr14 104948077
chr14:104948077 G
G
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7374C>A
c.7374C>A
 p.Ala2458Ala
p.Ala2458Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7511/18335 7374/17388 2458/5795 chr14 104948077
chr14:104948083 C
C
 T
T
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7368G>A
c.7368G>A
 p.Pro2456Pro
p.Pro2456Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7505/18335 7368/17388 2456/5795 chr14 104948083
chr14:104948095 A
A
 G
G
 3 a0028c0019
a0064c0165
a0130c0075
a0028c0019
a0064c0165
a0130c0075
 4 HG02896.hp1
HG02897.hp2
HG02976.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG02976.hp2
HG03130.hp1
 synonymous_variant LOW c.7356T>C
c.7356T>C
 p.Asp2452Asp
p.Asp2452Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7493/18335 7356/17388 2452/5795 chr14 104948095
chr14:104948128 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7323C>T
c.7323C>T
 p.Asp2441Asp
p.Asp2441Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7460/18335 7323/17388 2441/5795 chr14 104948128
chr14:104948143 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7308C>T
c.7308C>T
 p.Asp2436Asp
p.Asp2436Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7445/18335 7308/17388 2436/5795 chr14 104948143
chr14:104948152 G
G
 C
C
 2 a0028c0019
a0133c0097
a0028c0019
a0133c0097
 3 HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7299C>G
c.7299C>G
 p.Pro2433Pro
p.Pro2433Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7436/18335 7299/17388 2433/5795 chr14 104948152
chr14:104948173 G
G
 C
C
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7278C>G
c.7278C>G
 p.Pro2426Pro
p.Pro2426Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7415/18335 7278/17388 2426/5795 chr14 104948173
chr14:104948185 A
A
 G
G
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.7266T>C
c.7266T>C
 p.Asp2422Asp
p.Asp2422Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7403/18335 7266/17388 2422/5795 chr14 104948185
chr14:104948197 G
G
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7254C>A
c.7254C>A
 p.Gly2418Gly
p.Gly2418Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7391/18335 7254/17388 2418/5795 chr14 104948197
chr14:104948206 A
A
 G
G
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7245T>C
c.7245T>C
 p.Asp2415Asp
p.Asp2415Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7382/18335 7245/17388 2415/5795 chr14 104948206
chr14:104948209 T
T
 C
C
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7242A>G
c.7242A>G
 p.Val2414Val
p.Val2414Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7379/18335 7242/17388 2414/5795 chr14 104948209
chr14:104948215 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.7236C>T
c.7236C>T
 p.Pro2412Pro
p.Pro2412Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7373/18335 7236/17388 2412/5795 chr14 104948215
chr14:104948241 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7210C>T
c.7210C>T
 p.Leu2404Leu
p.Leu2404Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7347/18335 7210/17388 2404/5795 chr14 104948241
chr14:104948266 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7185C>T
c.7185C>T
 p.Ala2395Ala
p.Ala2395Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7322/18335 7185/17388 2395/5795 chr14 104948266
chr14:104948275 C
C
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7176G>C
c.7176G>C
 p.Pro2392Pro
p.Pro2392Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7313/18335 7176/17388 2392/5795 chr14 104948275
chr14:104948278 C
C
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7173G>T
c.7173G>T
 p.Val2391Val
p.Val2391Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7310/18335 7173/17388 2391/5795 chr14 104948278
chr14:104948281 G
G
 A
A
 2 a0064c0165
a0110c0221
a0064c0165
a0110c0221
 2 HG02738.hp1
HG03130.hp1
HG02738.hp1
HG03130.hp1
 synonymous_variant LOW c.7170C>T
c.7170C>T
 p.Pro2390Pro
p.Pro2390Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7307/18335 7170/17388 2390/5795 chr14 104948281
chr14:104948296 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7155A>G
c.7155A>G
 p.Lys2385Lys
p.Lys2385Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7292/18335 7155/17388 2385/5795 chr14 104948296
chr14:104948302 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7149T>C
c.7149T>C
 p.Asp2383Asp
p.Asp2383Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7286/18335 7149/17388 2383/5795 chr14 104948302
chr14:104948308 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7143A>G
c.7143A>G
 p.Gln2381Gln
p.Gln2381Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7280/18335 7143/17388 2381/5795 chr14 104948308
chr14:104948332 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7119T>C
c.7119T>C
 p.Ala2373Ala
p.Ala2373Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7256/18335 7119/17388 2373/5795 chr14 104948332
chr14:104948335 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7116C>T
c.7116C>T
 p.Ser2372Ser
p.Ser2372Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7253/18335 7116/17388 2372/5795 chr14 104948335
chr14:104948338 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7113T>C
c.7113T>C
 p.Pro2371Pro
p.Pro2371Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7250/18335 7113/17388 2371/5795 chr14 104948338
chr14:104948368 G
G
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.7083C>G
c.7083C>G
 p.Leu2361Leu
p.Leu2361Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7220/18335 7083/17388 2361/5795 chr14 104948368
chr14:104948392 G
G
 A
A
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.7059C>T
c.7059C>T
 p.Ser2353Ser
p.Ser2353Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7196/18335 7059/17388 2353/5795 chr14 104948392
chr14:104948401 G
G
 A
A
 3 a0008c0007
a0174c0110
a0184c0123
a0008c0007
a0174c0110
a0184c0123
 8 NA18612.hp2
NA18951.hp2
NA18995.hp2
others(5): Show 
NA18612.hp2
NA18951.hp2
NA18995.hp2
NA19063.hp2
NA19079.hp1
NA19084.hp1
NA19085.hp1
NA19088.hp1
 synonymous_variant LOW c.7050C>T
c.7050C>T
 p.Ala2350Ala
p.Ala2350Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7187/18335 7050/17388 2350/5795 chr14 104948401
chr14:104948415 A
A
 G
G
 3 a0064c0165
a0071c0177
a0133c0097
a0064c0165
a0071c0177
a0133c0097
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7036T>C
c.7036T>C
 p.Leu2346Leu
p.Leu2346Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7173/18335 7036/17388 2346/5795 chr14 104948415
chr14:104948416 C
C
 T
T
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.7035G>A
c.7035G>A
 p.Ala2345Ala
p.Ala2345Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7172/18335 7035/17388 2345/5795 chr14 104948416
chr14:104948431 T
T
 C
C
 3 a0064c0165
a0071c0177
a0133c0097
a0064c0165
a0071c0177
a0133c0097
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.7020A>G
c.7020A>G
 p.Ser2340Ser
p.Ser2340Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7157/18335 7020/17388 2340/5795 chr14 104948431
chr14:104948440 G
G
 A
A
 2 a0133c0097
a0156c0144
a0133c0097
a0156c0144
 2 HG02630.hp2
NA19077.hp1
HG02630.hp2
NA19077.hp1
 synonymous_variant LOW c.7011C>T
c.7011C>T
 p.Ile2337Ile
p.Ile2337Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7148/18335 7011/17388 2337/5795 chr14 104948440
chr14:104948452 A
A
 T
T
 4 a0063c0168
a0064c0165
a0071c0177
others(1): Show 
a0063c0168
a0064c0165
a0071c0177
a0133c0097
 4 HG02257.hp1
HG02630.hp2
HG03130.hp1
others(1): Show 
HG02257.hp1
HG02630.hp2
HG03130.hp1
HG06807.hp1
 synonymous_variant LOW c.6999T>A
c.6999T>A
 p.Leu2333Leu
p.Leu2333Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7136/18335 6999/17388 2333/5795 chr14 104948452
chr14:104948467 A
A
 G
G
 17 a0012c0036
a0012c0039
a0013c0010
others(14): Show 
a0012c0036
a0012c0039
a0013c0010
a0014c0009
a0040c0038
a0043c0040
a0064c0165
a0092c0191
a0106c0070
a0133c0097
a0139c0142
a0151c0145
a0153c0147
a0156c0144
a0164c0139
a0171c0107
a0190c0151
 27 HG00438.hp1
HG00609.hp2
HG00621.hp1
others(24): Show 
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02630.hp2
HG03130.hp1
NA18943.hp2
NA18948.hp1
NA18950.hp2
NA18953.hp2
NA18959.hp1
NA18961.hp1
NA18967.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18995.hp1
NA18998.hp1
NA18999.hp1
NA19000.hp2
NA19055.hp1
NA19065.hp2
NA19070.hp1
NA19077.hp1
NA19085.hp2
 synonymous_variant LOW c.6984T>C
c.6984T>C
 p.Phe2328Phe
p.Phe2328Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7121/18335 6984/17388 2328/5795 chr14 104948467
chr14:104948470 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6981G>A
c.6981G>A
 p.Ser2327Ser
p.Ser2327Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7118/18335 6981/17388 2327/5795 chr14 104948470
chr14:104948473 C
C
 G
G
 120 a0001c0001
a0001c0003
a0001c0045
others(117): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0008c0007
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0015c0035
a0015c0122
a0015c0125
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0046c0032
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0068c0169
a0069c0184
a0070c0170
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0149c0086
a0157c0080
a0170c0105
a0174c0110
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0184c0123
a0195c0243
a0196c0207
a0205c0245
a0207c0206
a0211c0247
 181 HG00099.hp1
HG00323.hp1
HG00438.hp2
others(178): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18951.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp2
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19063.hp2
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19079.hp1
NA19081.hp2
NA19084.hp1
NA19084.hp2
NA19085.hp1
NA19088.hp1
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.6978G>C
c.6978G>C
 p.Leu2326Leu
p.Leu2326Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7115/18335 6978/17388 2326/5795 chr14 104948473
chr14:104948515 A
A
 C
C
 1 a0110c0221
a0110c0221
 1 HG02738.hp1
HG02738.hp1
 synonymous_variant LOW c.6936T>G
c.6936T>G
 p.Thr2312Thr
p.Thr2312Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7073/18335 6936/17388 2312/5795 chr14 104948515
chr14:104948521 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6930C>T
c.6930C>T
 p.Asp2310Asp
p.Asp2310Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7067/18335 6930/17388 2310/5795 chr14 104948521
chr14:104948530 G
G
 C
C
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6921C>G
c.6921C>G
 p.Ala2307Ala
p.Ala2307Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7058/18335 6921/17388 2307/5795 chr14 104948530
chr14:104948536 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6915C>T
c.6915C>T
 p.Ser2305Ser
p.Ser2305Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7052/18335 6915/17388 2305/5795 chr14 104948536
chr14:104948545 C
C
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6906G>T
c.6906G>T
 p.Gly2302Gly
p.Gly2302Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7043/18335 6906/17388 2302/5795 chr14 104948545
chr14:104948545 C
C
 T
T
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6906G>A
c.6906G>A
 p.Gly2302Gly
p.Gly2302Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7043/18335 6906/17388 2302/5795 chr14 104948545
chr14:104948557 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6894G>A
c.6894G>A
 p.Ala2298Ala
p.Ala2298Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7031/18335 6894/17388 2298/5795 chr14 104948557
chr14:104948572 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6879C>T
c.6879C>T
 p.Ala2293Ala
p.Ala2293Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7016/18335 6879/17388 2293/5795 chr14 104948572
chr14:104948572 G
G
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6879C>A
c.6879C>A
 p.Ala2293Ala
p.Ala2293Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7016/18335 6879/17388 2293/5795 chr14 104948572
chr14:104948578 T
T
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6873A>G
c.6873A>G
 p.Pro2291Pro
p.Pro2291Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 7010/18335 6873/17388 2291/5795 chr14 104948578
chr14:104948590 G
G
 A
A
 2 a0064c0165
a0071c0177
a0064c0165
a0071c0177
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 synonymous_variant LOW c.6861C>T
c.6861C>T
 p.Asp2287Asp
p.Asp2287Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6998/18335 6861/17388 2287/5795 chr14 104948590
chr14:104948620 C
C
 G
G
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6831G>C
c.6831G>C
 p.Val2277Val
p.Val2277Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6968/18335 6831/17388 2277/5795 chr14 104948620
chr14:104948623 A
A
 G
G
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6828T>C
c.6828T>C
 p.Asp2276Asp
p.Asp2276Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6965/18335 6828/17388 2276/5795 chr14 104948623
chr14:104948626 A
A
 G
G
 3 a0064c0165
a0071c0177
a0133c0097
a0064c0165
a0071c0177
a0133c0097
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6825T>C
c.6825T>C
 p.Pro2275Pro
p.Pro2275Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6962/18335 6825/17388 2275/5795 chr14 104948626
chr14:104948632 T
T
 C
C
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6819A>G
c.6819A>G
 p.Thr2273Thr
p.Thr2273Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6956/18335 6819/17388 2273/5795 chr14 104948632
chr14:104948638 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6813A>G
c.6813A>G
 p.Glu2271Glu
p.Glu2271Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6950/18335 6813/17388 2271/5795 chr14 104948638
chr14:104948656 T
T
 C
C
 3 a0064c0165
a0071c0177
a0133c0097
a0064c0165
a0071c0177
a0133c0097
 3 HG02257.hp1
HG02630.hp2
HG03130.hp1
HG02257.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.6795A>G
c.6795A>G
 p.Leu2265Leu
p.Leu2265Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6932/18335 6795/17388 2265/5795 chr14 104948656
chr14:104948677 G
G
 A
A
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6774C>T
c.6774C>T
 p.Ile2258Ile
p.Ile2258Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6911/18335 6774/17388 2258/5795 chr14 104948677
chr14:104948680 G
G
 A
A
 2 a0064c0165
a0071c0177
a0064c0165
a0071c0177
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 synonymous_variant LOW c.6771C>T
c.6771C>T
 p.Asp2257Asp
p.Asp2257Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6908/18335 6771/17388 2257/5795 chr14 104948680
chr14:104948686 T
T
 C
C
 2 a0064c0165
a0071c0177
a0064c0165
a0071c0177
 2 HG02257.hp1
HG03130.hp1
HG02257.hp1
HG03130.hp1
 synonymous_variant LOW c.6765A>G
c.6765A>G
 p.Glu2255Glu
p.Glu2255Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6902/18335 6765/17388 2255/5795 chr14 104948686
chr14:104948701 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6750C>T
c.6750C>T
 p.Asp2250Asp
p.Asp2250Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6887/18335 6750/17388 2250/5795 chr14 104948701
chr14:104948704 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6747G>A
c.6747G>A
 p.Val2249Val
p.Val2249Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6884/18335 6747/17388 2249/5795 chr14 104948704
chr14:104948745 G
G
 A
A
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6706C>T
c.6706C>T
 p.Leu2236Leu
p.Leu2236Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6843/18335 6706/17388 2236/5795 chr14 104948745
chr14:104948761 G
G
 A
A
 1 a0057c0156
a0057c0156
 1 NA18951.hp1
NA18951.hp1
 synonymous_variant LOW c.6690C>T
c.6690C>T
 p.Val2230Val
p.Val2230Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6827/18335 6690/17388 2230/5795 chr14 104948761
chr14:104948770 G
G
 C
C
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6681C>G
c.6681C>G
 p.Pro2227Pro
p.Pro2227Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6818/18335 6681/17388 2227/5795 chr14 104948770
chr14:104948776 A
A
 C
C
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6675T>G
c.6675T>G
 p.Pro2225Pro
p.Pro2225Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6812/18335 6675/17388 2225/5795 chr14 104948776
chr14:104948776 A
A
 G
G
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6675T>C
c.6675T>C
 p.Pro2225Pro
p.Pro2225Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6812/18335 6675/17388 2225/5795 chr14 104948776
chr14:104948779 G
G
 A
A
 1 a0099c0061
a0099c0061
 1 HG01891.hp2
HG01891.hp2
 synonymous_variant LOW c.6672C>T
c.6672C>T
 p.Gly2224Gly
p.Gly2224Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6809/18335 6672/17388 2224/5795 chr14 104948779
chr14:104948785 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6666G>A
c.6666G>A
 p.Leu2222Leu
p.Leu2222Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6803/18335 6666/17388 2222/5795 chr14 104948785
chr14:104948791 T
T
 C
C
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6660A>G
c.6660A>G
 p.Lys2220Lys
p.Lys2220Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6797/18335 6660/17388 2220/5795 chr14 104948791
chr14:104948797 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6654C>T
c.6654C>T
 p.Asp2218Asp
p.Asp2218Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6791/18335 6654/17388 2218/5795 chr14 104948797
chr14:104948803 C
C
 T
T
 3 a0018c0017
a0064c0165
a0071c0177
a0018c0017
a0064c0165
a0071c0177
 5 HG02257.hp1
HG03130.hp1
NA18948.hp2
others(2): Show 
HG02257.hp1
HG03130.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6648G>A
c.6648G>A
 p.Gln2216Gln
p.Gln2216Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6785/18335 6648/17388 2216/5795 chr14 104948803
chr14:104948827 G
G
 A
A
 7 a0018c0017
a0028c0019
a0063c0168
others(4): Show 
a0018c0017
a0028c0019
a0063c0168
a0064c0165
a0067c0058
a0159c0141
a0172c0124
 10 HG02896.hp1
HG02897.hp2
HG03130.hp1
others(7): Show 
HG02896.hp1
HG02897.hp2
HG03130.hp1
HG03130.hp2
HG03669.hp1
HG06807.hp1
NA18948.hp2
NA18977.hp2
NA19030.hp1
NA19081.hp2
 synonymous_variant LOW c.6624C>T
c.6624C>T
 p.Ala2208Ala
p.Ala2208Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6761/18335 6624/17388 2208/5795 chr14 104948827
chr14:104948827 G
G
 T
T
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6624C>A
c.6624C>A
 p.Ala2208Ala
p.Ala2208Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6761/18335 6624/17388 2208/5795 chr14 104948827
chr14:104948830 G
G
 A
A
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6621C>T
c.6621C>T
 p.Ser2207Ser
p.Ser2207Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6758/18335 6621/17388 2207/5795 chr14 104948830
chr14:104948854 A
A
 C
C
 1 a0071c0177
a0071c0177
 1 HG02257.hp1
HG02257.hp1
 synonymous_variant LOW c.6597T>G
c.6597T>G
 p.Thr2199Thr
p.Thr2199Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6734/18335 6597/17388 2199/5795 chr14 104948854
chr14:104948863 G
G
 C
C
 1 a0007c0104
a0007c0104
 1 HG00639.hp2
HG00639.hp2
 synonymous_variant LOW c.6588C>G
c.6588C>G
 p.Leu2196Leu
p.Leu2196Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6725/18335 6588/17388 2196/5795 chr14 104948863
chr14:104948887 A
A
 G
G
 9 a0002c0109
a0018c0017
a0045c0024
others(6): Show 
a0002c0109
a0018c0017
a0045c0024
a0055c0205
a0064c0165
a0071c0177
a0086c0188
a0161c0079
a0205c0245
 12 HG00733.hp1
HG02080.hp1
HG02109.hp1
others(9): Show 
HG00733.hp1
HG02080.hp1
HG02109.hp1
HG02257.hp1
HG03130.hp1
HG03139.hp1
HG03516.hp2
HG03942.hp1
NA18906.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6564T>C
c.6564T>C
 p.Ser2188Ser
p.Ser2188Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6701/18335 6564/17388 2188/5795 chr14 104948887
chr14:104948893 G
G
 A
A
 2 a0071c0177
a0086c0188
a0071c0177
a0086c0188
 2 HG02257.hp1
HG03942.hp1
HG02257.hp1
HG03942.hp1
 synonymous_variant LOW c.6558C>T
c.6558C>T
 p.Asp2186Asp
p.Asp2186Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6695/18335 6558/17388 2186/5795 chr14 104948893
chr14:104948908 G
G
 C
C
 14 a0044c0049
a0051c0051
a0064c0165
others(11): Show 
a0044c0049
a0051c0051
a0064c0165
a0071c0177
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0086c0188
a0144c0238
a0169c0237
a0197c0057
 16 HG01167.hp1
HG01169.hp1
HG01884.hp2
others(13): Show 
HG01167.hp1
HG01169.hp1
HG01884.hp2
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.6543C>G
c.6543C>G
 p.Pro2181Pro
p.Pro2181Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6680/18335 6543/17388 2181/5795 chr14 104948908
chr14:104948911 T
T
 C
C
 14 a0044c0049
a0051c0051
a0064c0165
others(11): Show 
a0044c0049
a0051c0051
a0064c0165
a0071c0177
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0086c0188
a0144c0238
a0169c0237
a0197c0057
 16 HG01167.hp1
HG01169.hp1
HG01884.hp2
others(13): Show 
HG01167.hp1
HG01169.hp1
HG01884.hp2
HG02257.hp1
HG02451.hp1
HG02717.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp2
HG03098.hp1
HG03130.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.6540A>G
c.6540A>G
 p.Pro2180Pro
p.Pro2180Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6677/18335 6540/17388 2180/5795 chr14 104948911
chr14:104948920 A
A
 G
G
 2 a0018c0017
a0153c0147
a0018c0017
a0153c0147
 4 NA18948.hp2
NA18953.hp2
NA18977.hp2
others(1): Show 
NA18948.hp2
NA18953.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6531T>C
c.6531T>C
 p.Asp2177Asp
p.Asp2177Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6668/18335 6531/17388 2177/5795 chr14 104948920
chr14:104948926 C
C
 G
G
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6525G>C
c.6525G>C
 p.Ser2175Ser
p.Ser2175Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6662/18335 6525/17388 2175/5795 chr14 104948926
chr14:104948926 C
C
 T
T
 3 a0054c0059
a0064c0165
a0100c0062
a0054c0059
a0064c0165
a0100c0062
 3 HG01496.hp1
HG03130.hp1
NA19030.hp2
HG01496.hp1
HG03130.hp1
NA19030.hp2
 synonymous_variant LOW c.6525G>A
c.6525G>A
 p.Ser2175Ser
p.Ser2175Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6662/18335 6525/17388 2175/5795 chr14 104948926
chr14:104948935 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6516C>T
c.6516C>T
 p.Ile2172Ile
p.Ile2172Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6653/18335 6516/17388 2172/5795 chr14 104948935
chr14:104948944 G
G
 C
C
 2 a0082c0174
a0083c0176
a0082c0174
a0083c0176
 2 HG02055.hp2
NA18522.hp2
HG02055.hp2
NA18522.hp2
 synonymous_variant LOW c.6507C>G
c.6507C>G
 p.Gly2169Gly
p.Gly2169Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6644/18335 6507/17388 2169/5795 chr14 104948944
chr14:104948947 T
T
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6504A>T
c.6504A>T
 p.Pro2168Pro
p.Pro2168Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6641/18335 6504/17388 2168/5795 chr14 104948947
chr14:104948953 A
A
 C
C
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6498T>G
c.6498T>G
 p.Ser2166Ser
p.Ser2166Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6635/18335 6498/17388 2166/5795 chr14 104948953
chr14:104948953 A
A
 T
T
 7 a0026c0042
a0055c0205
a0062c0167
others(4): Show 
a0026c0042
a0055c0205
a0062c0167
a0085c0172
a0098c0204
a0150c0082
a0205c0245
 8 HG00733.hp1
HG01255.hp2
HG02109.hp1
others(5): Show 
HG00733.hp1
HG01255.hp2
HG02109.hp1
HG02258.hp1
HG02809.hp2
HG02965.hp2
HG03041.hp2
HG03453.hp1
 synonymous_variant LOW c.6498T>A
c.6498T>A
 p.Ser2166Ser
p.Ser2166Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6635/18335 6498/17388 2166/5795 chr14 104948953
chr14:104948956 C
C
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6495G>T
c.6495G>T
 p.Val2165Val
p.Val2165Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6632/18335 6495/17388 2165/5795 chr14 104948956
chr14:104948956 C
C
 T
T
 6 a0003c0033
a0003c0115
a0061c0166
others(3): Show 
a0003c0033
a0003c0115
a0061c0166
a0141c0092
a0188c0074
a0189c0073
 7 HG01884.hp1
HG02280.hp2
HG02965.hp1
others(4): Show 
HG01884.hp1
HG02280.hp2
HG02965.hp1
HG03195.hp1
NA18952.hp2
NA18970.hp2
NA19010.hp1
 synonymous_variant LOW c.6495G>A
c.6495G>A
 p.Val2165Val
p.Val2165Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6632/18335 6495/17388 2165/5795 chr14 104948956
chr14:104948962 A
A
 G
G
 18 a0004c0157
a0009c0185
a0034c0048
others(15): Show 
a0004c0157
a0009c0185
a0034c0048
a0037c0029
a0055c0205
a0071c0177
a0084c0181
a0086c0188
a0132c0236
a0141c0092
a0150c0082
a0188c0074
a0189c0073
a0195c0243
a0198c0152
a0203c0210
a0205c0245
a0207c0206
 20 HG00558.hp1
HG00733.hp1
HG01175.hp2
others(17): Show 
HG00558.hp1
HG00733.hp1
HG01175.hp2
HG02055.hp1
HG02109.hp1
HG02257.hp1
HG02280.hp2
HG02451.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03492.hp2
HG03540.hp1
HG03942.hp1
NA18906.hp2
NA18954.hp2
NA19011.hp1
 synonymous_variant LOW c.6489T>C
c.6489T>C
 p.Phe2163Phe
p.Phe2163Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6626/18335 6489/17388 2163/5795 chr14 104948962
chr14:104948968 C
C
 T
T
 4 a0074c0179
a0075c0164
a0076c0163
others(1): Show 
a0074c0179
a0075c0164
a0076c0163
a0078c0175
 4 HG01884.hp2
HG02451.hp1
HG02717.hp2
others(1): Show 
HG01884.hp2
HG02451.hp1
HG02717.hp2
NA20129.hp2
 synonymous_variant LOW c.6483G>A
c.6483G>A
 p.Pro2161Pro
p.Pro2161Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6620/18335 6483/17388 2161/5795 chr14 104948968
chr14:104949016 G
G
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6435C>T
c.6435C>T
 p.Asp2145Asp
p.Asp2145Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6572/18335 6435/17388 2145/5795 chr14 104949016
chr14:104949040 C
C
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6411G>T
c.6411G>T
 p.Gly2137Gly
p.Gly2137Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6548/18335 6411/17388 2137/5795 chr14 104949040
chr14:104949052 C
C
 T
T
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6399G>A
c.6399G>A
 p.Ala2133Ala
p.Ala2133Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6536/18335 6399/17388 2133/5795 chr14 104949052
chr14:104949055 A
A
 G
G
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6396T>C
c.6396T>C
 p.Ser2132Ser
p.Ser2132Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6533/18335 6396/17388 2132/5795 chr14 104949055
chr14:104949058 A
A
 G
G
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6393T>C
c.6393T>C
 p.Asp2131Asp
p.Asp2131Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6530/18335 6393/17388 2131/5795 chr14 104949058
chr14:104949063 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6388C>T
c.6388C>T
 p.Leu2130Leu
p.Leu2130Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6525/18335 6388/17388 2130/5795 chr14 104949063
chr14:104949073 T
T
 C
C
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6378A>G
c.6378A>G
 p.Pro2126Pro
p.Pro2126Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6515/18335 6378/17388 2126/5795 chr14 104949073
chr14:104949076 G
G
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6375C>T
c.6375C>T
 p.Ala2125Ala
p.Ala2125Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6512/18335 6375/17388 2125/5795 chr14 104949076
chr14:104949085 G
G
 A
A
 63 a0006c0006
a0006c0200
a0009c0043
others(60): Show 
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0015c0035
a0015c0122
a0015c0125
a0017c0015
a0019c0016
a0020c0018
a0026c0042
a0027c0189
a0027c0190
a0035c0023
a0036c0030
a0046c0032
a0053c0246
a0055c0205
a0061c0166
a0062c0167
a0066c0202
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0114c0225
a0130c0075
a0149c0086
a0170c0105
a0179c0121
a0180c0120
a0182c0128
a0183c0130
a0196c0207
a0205c0245
a0207c0206
a0211c0247
 84 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(81): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00738.hp1
HG01099.hp2
HG01167.hp2
HG01175.hp2
HG01255.hp2
HG01261.hp2
HG01884.hp1
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02132.hp1
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02273.hp2
HG02300.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02630.hp1
HG02717.hp1
HG02738.hp2
HG02809.hp2
HG02922.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp1
 synonymous_variant LOW c.6366C>T
c.6366C>T
 p.Asp2122Asp
p.Asp2122Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6503/18335 6366/17388 2122/5795 chr14 104949085
chr14:104949097 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6354C>T
c.6354C>T
 p.Ser2118Ser
p.Ser2118Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6491/18335 6354/17388 2118/5795 chr14 104949097
chr14:104949115 G
G
 A
A
 1 a0156c0144
a0156c0144
 1 NA19077.hp1
NA19077.hp1
 synonymous_variant LOW c.6336C>T
c.6336C>T
 p.Val2112Val
p.Val2112Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6473/18335 6336/17388 2112/5795 chr14 104949115
chr14:104949115 G
G
 C
C
 3 a0018c0017
a0064c0165
a0086c0188
a0018c0017
a0064c0165
a0086c0188
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6336C>G
c.6336C>G
 p.Val2112Val
p.Val2112Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6473/18335 6336/17388 2112/5795 chr14 104949115
chr14:104949118 A
A
 G
G
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6333T>C
c.6333T>C
 p.Asp2111Asp
p.Asp2111Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6470/18335 6333/17388 2111/5795 chr14 104949118
chr14:104949121 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6330C>T
c.6330C>T
 p.Pro2110Pro
p.Pro2110Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6467/18335 6330/17388 2110/5795 chr14 104949121
chr14:104949127 T
T
 C
C
 2 a0018c0017
a0086c0188
a0018c0017
a0086c0188
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6324A>G
c.6324A>G
 p.Arg2108Arg
p.Arg2108Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6461/18335 6324/17388 2108/5795 chr14 104949127
chr14:104949133 T
T
 C
C
 2 a0018c0017
a0086c0188
a0018c0017
a0086c0188
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6318A>G
c.6318A>G
 p.Glu2106Glu
p.Glu2106Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6455/18335 6318/17388 2106/5795 chr14 104949133
chr14:104949136 C
C
 T
T
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6315G>A
c.6315G>A
 p.Val2105Val
p.Val2105Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6452/18335 6315/17388 2105/5795 chr14 104949136
chr14:104949142 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6309C>T
c.6309C>T
 p.Pro2103Pro
p.Pro2103Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6446/18335 6309/17388 2103/5795 chr14 104949142
chr14:104949145 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6306C>T
c.6306C>T
 p.Asp2102Asp
p.Asp2102Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6443/18335 6306/17388 2102/5795 chr14 104949145
chr14:104949151 T
T
 C
C
 2 a0018c0017
a0086c0188
a0018c0017
a0086c0188
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6300A>G
c.6300A>G
 p.Leu2100Leu
p.Leu2100Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6437/18335 6300/17388 2100/5795 chr14 104949151
chr14:104949160 T
T
 C
C
 3 a0018c0017
a0064c0165
a0086c0188
a0018c0017
a0064c0165
a0086c0188
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6291A>G
c.6291A>G
 p.Lys2097Lys
p.Lys2097Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6428/18335 6291/17388 2097/5795 chr14 104949160
chr14:104949178 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6273G>A
c.6273G>A
 p.Val2091Val
p.Val2091Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6410/18335 6273/17388 2091/5795 chr14 104949178
chr14:104949181 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6270G>A
c.6270G>A
 p.Gln2090Gln
p.Gln2090Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6407/18335 6270/17388 2090/5795 chr14 104949181
chr14:104949196 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6255C>T
c.6255C>T
 p.Asp2085Asp
p.Asp2085Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6392/18335 6255/17388 2085/5795 chr14 104949196
chr14:104949220 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6231C>T
c.6231C>T
 p.Pro2077Pro
p.Pro2077Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6368/18335 6231/17388 2077/5795 chr14 104949220
chr14:104949238 C
C
 G
G
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6213G>C
c.6213G>C
 p.Leu2071Leu
p.Leu2071Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6350/18335 6213/17388 2071/5795 chr14 104949238
chr14:104949256 A
A
 G
G
 4 a0018c0017
a0064c0165
a0086c0188
others(1): Show 
a0018c0017
a0064c0165
a0086c0188
a0133c0097
 6 HG02630.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02630.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6195T>C
c.6195T>C
 p.Ala2065Ala
p.Ala2065Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6332/18335 6195/17388 2065/5795 chr14 104949256
chr14:104949265 G
G
 A
A
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6186C>T
c.6186C>T
 p.Pro2062Pro
p.Pro2062Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6323/18335 6186/17388 2062/5795 chr14 104949265
chr14:104949268 C
C
 A
A
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6183G>T
c.6183G>T
 p.Val2061Val
p.Val2061Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6320/18335 6183/17388 2061/5795 chr14 104949268
chr14:104949271 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.6180C>T
c.6180C>T
 p.His2060His
p.His2060His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6317/18335 6180/17388 2060/5795 chr14 104949271
chr14:104949280 C
C
 T
T
 3 a0036c0030
a0133c0097
a0191c0150
a0036c0030
a0133c0097
a0191c0150
 4 HG02280.hp1
HG02630.hp2
HG02922.hp1
others(1): Show 
HG02280.hp1
HG02630.hp2
HG02922.hp1
HG03209.hp2
 synonymous_variant LOW c.6171G>A
c.6171G>A
 p.Pro2057Pro
p.Pro2057Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6308/18335 6171/17388 2057/5795 chr14 104949280
chr14:104949286 C
C
 T
T
 3 a0064c0165
a0086c0188
a0133c0097
a0064c0165
a0086c0188
a0133c0097
 3 HG02630.hp2
HG03130.hp1
HG03942.hp1
HG02630.hp2
HG03130.hp1
HG03942.hp1
 synonymous_variant LOW c.6165G>A
c.6165G>A
 p.Lys2055Lys
p.Lys2055Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6302/18335 6165/17388 2055/5795 chr14 104949286
chr14:104949292 A
A
 G
G
 4 a0018c0017
a0064c0165
a0086c0188
others(1): Show 
a0018c0017
a0064c0165
a0086c0188
a0133c0097
 6 HG02630.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02630.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6159T>C
c.6159T>C
 p.Asp2053Asp
p.Asp2053Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6296/18335 6159/17388 2053/5795 chr14 104949292
chr14:104949298 C
C
 T
T
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6153G>A
c.6153G>A
 p.Gln2051Gln
p.Gln2051Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6290/18335 6153/17388 2051/5795 chr14 104949298
chr14:104949301 G
G
 T
T
 2 a0014c0009
a0164c0139
a0014c0009
a0164c0139
 5 NA18959.hp1
NA18961.hp1
NA18967.hp2
others(2): Show 
NA18959.hp1
NA18961.hp1
NA18967.hp2
NA19000.hp2
NA19085.hp2
 synonymous_variant LOW c.6150C>A
c.6150C>A
 p.Gly2050Gly
p.Gly2050Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6287/18335 6150/17388 2050/5795 chr14 104949301
chr14:104949322 G
G
 A
A
 45 a0006c0006
a0006c0200
a0009c0043
others(42): Show 
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0015c0035
a0015c0122
a0015c0125
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0027c0189
a0027c0190
a0035c0023
a0053c0246
a0057c0156
a0066c0202
a0069c0184
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0114c0225
a0149c0086
a0170c0105
a0182c0128
a0183c0130
a0207c0206
a0211c0247
 65 HG00558.hp2
HG00597.hp2
HG00609.hp1
others(62): Show 
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG01167.hp2
HG01175.hp2
HG01261.hp2
HG01952.hp2
HG01975.hp1
HG01993.hp1
HG02004.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02148.hp2
HG02273.hp1
HG02273.hp2
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA19081.hp2
NA20129.hp1
 synonymous_variant LOW c.6129C>T
c.6129C>T
 p.Ala2043Ala
p.Ala2043Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6266/18335 6129/17388 2043/5795 chr14 104949322
chr14:104949325 A
A
 G
G
 4 a0018c0017
a0064c0165
a0086c0188
others(1): Show 
a0018c0017
a0064c0165
a0086c0188
a0133c0097
 6 HG02630.hp2
HG03130.hp1
HG03942.hp1
others(3): Show 
HG02630.hp2
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6126T>C
c.6126T>C
 p.Ser2042Ser
p.Ser2042Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6263/18335 6126/17388 2042/5795 chr14 104949325
chr14:104949328 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6123T>C
c.6123T>C
 p.Pro2041Pro
p.Pro2041Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6260/18335 6123/17388 2041/5795 chr14 104949328
chr14:104949358 C
C
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6093G>T
c.6093G>T
 p.Leu2031Leu
p.Leu2031Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6230/18335 6093/17388 2031/5795 chr14 104949358
chr14:104949358 C
C
 G
G
 2 a0018c0017
a0086c0188
a0018c0017
a0086c0188
 4 HG03942.hp1
NA18948.hp2
NA18977.hp2
others(1): Show 
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6093G>C
c.6093G>C
 p.Leu2031Leu
p.Leu2031Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6230/18335 6093/17388 2031/5795 chr14 104949358
chr14:104949361 G
G
 A
A
 2 a0068c0169
a0133c0097
a0068c0169
a0133c0097
 2 HG02630.hp1
HG02630.hp2
HG02630.hp1
HG02630.hp2
 synonymous_variant LOW c.6090C>T
c.6090C>T
 p.Asp2030Asp
p.Asp2030Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6227/18335 6090/17388 2030/5795 chr14 104949361
chr14:104949367 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.6084G>A
c.6084G>A
 p.Gln2028Gln
p.Gln2028Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6221/18335 6084/17388 2028/5795 chr14 104949367
chr14:104949382 A
A
 G
G
 3 a0051c0051
a0086c0188
a0133c0097
a0051c0051
a0086c0188
a0133c0097
 4 HG01167.hp1
HG01169.hp1
HG02630.hp2
others(1): Show 
HG01167.hp1
HG01169.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6069T>C
c.6069T>C
 p.Ser2023Ser
p.Ser2023Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6206/18335 6069/17388 2023/5795 chr14 104949382
chr14:104949388 G
G
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.6063C>T
c.6063C>T
 p.Asp2021Asp
p.Asp2021Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6200/18335 6063/17388 2021/5795 chr14 104949388
chr14:104949391 G
G
 A
A
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6060C>T
c.6060C>T
 p.Ala2020Ala
p.Ala2020Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6197/18335 6060/17388 2020/5795 chr14 104949391
chr14:104949394 C
C
 T
T
 4 a0002c0031
a0002c0109
a0086c0188
others(1): Show 
a0002c0031
a0002c0109
a0086c0188
a0133c0097
 5 HG00597.hp1
HG02080.hp1
HG02630.hp2
others(2): Show 
HG00597.hp1
HG02080.hp1
HG02630.hp2
HG03942.hp1
NA18967.hp1
 synonymous_variant LOW c.6057G>A
c.6057G>A
 p.Glu2019Glu
p.Glu2019Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6194/18335 6057/17388 2019/5795 chr14 104949394
chr14:104949400 C
C
 T
T
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.6051G>A
c.6051G>A
 p.Lys2017Lys
p.Lys2017Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6188/18335 6051/17388 2017/5795 chr14 104949400
chr14:104949403 G
G
 C
C
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6048C>G
c.6048C>G
 p.Pro2016Pro
p.Pro2016Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6185/18335 6048/17388 2016/5795 chr14 104949403
chr14:104949406 T
T
 C
C
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6045A>G
c.6045A>G
 p.Ala2015Ala
p.Ala2015Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6182/18335 6045/17388 2015/5795 chr14 104949406
chr14:104949439 C
C
 G
G
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6012G>C
c.6012G>C
 p.Gly2004Gly
p.Gly2004Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6149/18335 6012/17388 2004/5795 chr14 104949439
chr14:104949451 T
T
 C
C
 3 a0005c0091
a0086c0188
a0133c0097
a0005c0091
a0086c0188
a0133c0097
 3 HG02109.hp2
HG02630.hp2
HG03942.hp1
HG02109.hp2
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.6000A>G
c.6000A>G
 p.Val2000Val
p.Val2000Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6137/18335 6000/17388 2000/5795 chr14 104949451
chr14:104949460 C
C
 T
T
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.5991G>A
c.5991G>A
 p.Ser1997Ser
p.Ser1997Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6128/18335 5991/17388 1997/5795 chr14 104949460
chr14:104949463 C
C
 T
T
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5988G>A
c.5988G>A
 p.Pro1996Pro
p.Pro1996Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6125/18335 5988/17388 1996/5795 chr14 104949463
chr14:104949475 T
T
 C
C
 9 a0004c0005
a0004c0157
a0004c0158
others(6): Show 
a0004c0005
a0004c0157
a0004c0158
a0056c0159
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 15 HG00438.hp2
HG00558.hp1
HG01167.hp2
others(12): Show 
HG00438.hp2
HG00558.hp1
HG01167.hp2
HG02630.hp2
HG02698.hp2
HG03195.hp2
HG03710.hp2
HG03942.hp1
NA18956.hp2
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA20129.hp1
 synonymous_variant LOW c.5976A>G
c.5976A>G
 p.Lys1992Lys
p.Lys1992Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6113/18335 5976/17388 1992/5795 chr14 104949475
chr14:104949496 G
G
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5955C>T
c.5955C>T
 p.Asp1985Asp
p.Asp1985Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6092/18335 5955/17388 1985/5795 chr14 104949496
chr14:104949505 A
A
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5946T>A
c.5946T>A
 p.Thr1982Thr
p.Thr1982Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6083/18335 5946/17388 1982/5795 chr14 104949505
chr14:104949535 T
T
 A
A
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5916A>T
c.5916A>T
 p.Gly1972Gly
p.Gly1972Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6053/18335 5916/17388 1972/5795 chr14 104949535
chr14:104949535 T
T
 C
C
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.5916A>G
c.5916A>G
 p.Gly1972Gly
p.Gly1972Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6053/18335 5916/17388 1972/5795 chr14 104949535
chr14:104949553 A
A
 G
G
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5898T>C
c.5898T>C
 p.Asp1966Asp
p.Asp1966Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6035/18335 5898/17388 1966/5795 chr14 104949553
chr14:104949562 A
A
 G
G
 14 a0032c0050
a0034c0048
a0068c0169
others(11): Show 
a0032c0050
a0034c0048
a0068c0169
a0076c0163
a0102c0064
a0103c0065
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0131c0235
a0132c0236
a0195c0243
a0203c0210
 16 HG01884.hp2
HG02258.hp2
HG02451.hp2
others(13): Show 
HG01884.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02723.hp1
HG02976.hp1
HG03098.hp2
HG03225.hp1
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA20300.hp2
 synonymous_variant LOW c.5889T>C
c.5889T>C
 p.Ala1963Ala
p.Ala1963Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6026/18335 5889/17388 1963/5795 chr14 104949562
chr14:104949562 A
A
 T
T
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.5889T>A
c.5889T>A
 p.Ala1963Ala
p.Ala1963Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6026/18335 5889/17388 1963/5795 chr14 104949562
chr14:104949565 C
C
 T
T
 2 a0086c0188
a0133c0097
a0086c0188
a0133c0097
 2 HG02630.hp2
HG03942.hp1
HG02630.hp2
HG03942.hp1
 synonymous_variant LOW c.5886G>A
c.5886G>A
 p.Lys1962Lys
p.Lys1962Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6023/18335 5886/17388 1962/5795 chr14 104949565
chr14:104949571 G
G
 T
T
 1 a0088c0198
a0088c0198
 1 HG03834.hp2
HG03834.hp2
 synonymous_variant LOW c.5880C>A
c.5880C>A
 p.Ala1960Ala
p.Ala1960Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6017/18335 5880/17388 1960/5795 chr14 104949571
chr14:104949580 A
A
 G
G
 5 a0069c0184
a0080c0180
a0081c0173
others(2): Show 
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5871T>C
c.5871T>C
 p.Asp1957Asp
p.Asp1957Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 6008/18335 5871/17388 1957/5795 chr14 104949580
chr14:104949610 G
G
 C
C
 5 a0069c0184
a0080c0180
a0081c0173
others(2): Show 
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5841C>G
c.5841C>G
 p.Val1947Val
p.Val1947Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5978/18335 5841/17388 1947/5795 chr14 104949610
chr14:104949613 A
A
 G
G
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5838T>C
c.5838T>C
 p.Asp1946Asp
p.Asp1946Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5975/18335 5838/17388 1946/5795 chr14 104949613
chr14:104949622 T
T
 C
C
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5829A>G
c.5829A>G
 p.Thr1943Thr
p.Thr1943Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5966/18335 5829/17388 1943/5795 chr14 104949622
chr14:104949628 T
T
 C
C
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5823A>G
c.5823A>G
 p.Glu1941Glu
p.Glu1941Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5960/18335 5823/17388 1941/5795 chr14 104949628
chr14:104949667 A
A
 G
G
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5784T>C
c.5784T>C
 p.Val1928Val
p.Val1928Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5921/18335 5784/17388 1928/5795 chr14 104949667
chr14:104949670 A
A
 G
G
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5781T>C
c.5781T>C
 p.Asp1927Asp
p.Asp1927Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5918/18335 5781/17388 1927/5795 chr14 104949670
chr14:104949673 T
T
 C
C
 120 a0001c0001
a0001c0003
a0001c0045
others(117): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0035c0023
a0036c0030
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0149c0086
a0160c0078
a0191c0150
a0195c0243
a0196c0207
a0197c0057
a0203c0210
a0204c0053
a0205c0245
a0207c0206
a0211c0247
 173 HG00099.hp1
HG00323.hp1
HG00438.hp2
others(170): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02922.hp1
HG02922.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.5778A>G
c.5778A>G
 p.Thr1926Thr
p.Thr1926Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5915/18335 5778/17388 1926/5795 chr14 104949673
chr14:104949682 G
G
 C
C
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5769C>G
c.5769C>G
 p.Gly1923Gly
p.Gly1923Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5906/18335 5769/17388 1923/5795 chr14 104949682
chr14:104949700 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5751C>T
c.5751C>T
 p.Pro1917Pro
p.Pro1917Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5888/18335 5751/17388 1917/5795 chr14 104949700
chr14:104949715 G
G
 A
A
 2 a0055c0205
a0205c0245
a0055c0205
a0205c0245
 2 HG00733.hp1
HG02109.hp1
HG00733.hp1
HG02109.hp1
 synonymous_variant LOW c.5736C>T
c.5736C>T
 p.Pro1912Pro
p.Pro1912Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5873/18335 5736/17388 1912/5795 chr14 104949715
chr14:104949727 C
C
 T
T
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5724G>A
c.5724G>A
 p.Lys1908Lys
p.Lys1908Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5861/18335 5724/17388 1908/5795 chr14 104949727
chr14:104949735 A
A
 G
G
 6 a0069c0184
a0080c0180
a0081c0173
others(3): Show 
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
a0201c0154
 6 HG01167.hp2
HG02622.hp2
HG02630.hp2
others(3): Show 
HG01167.hp2
HG02622.hp2
HG02630.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5716T>C
c.5716T>C
 p.Leu1906Leu
p.Leu1906Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5853/18335 5716/17388 1906/5795 chr14 104949735
chr14:104949763 C
C
 A
A
 4 a0069c0184
a0080c0180
a0081c0173
others(1): Show 
a0069c0184
a0080c0180
a0081c0173
a0133c0097
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5688G>T
c.5688G>T
 p.Val1896Val
p.Val1896Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5825/18335 5688/17388 1896/5795 chr14 104949763
chr14:104949775 C
C
 T
T
 3 a0074c0179
a0075c0164
a0133c0097
a0074c0179
a0075c0164
a0133c0097
 3 HG02630.hp2
HG02717.hp2
NA20129.hp2
HG02630.hp2
HG02717.hp2
NA20129.hp2
 synonymous_variant LOW c.5676G>A
c.5676G>A
 p.Pro1892Pro
p.Pro1892Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5813/18335 5676/17388 1892/5795 chr14 104949775
chr14:104949781 C
C
 T
T
 7 a0069c0184
a0074c0179
a0075c0164
others(4): Show 
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 7 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(4): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.5670G>A
c.5670G>A
 p.Lys1890Lys
p.Lys1890Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5807/18335 5670/17388 1890/5795 chr14 104949781
chr14:104949787 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5664C>T
c.5664C>T
 p.Asp1888Asp
p.Asp1888Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5801/18335 5664/17388 1888/5795 chr14 104949787
chr14:104949793 T
T
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5658A>G
c.5658A>G
 p.Gln1886Gln
p.Gln1886Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5795/18335 5658/17388 1886/5795 chr14 104949793
chr14:104949817 T
T
 A
A
 4 a0054c0059
a0074c0179
a0075c0164
others(1): Show 
a0054c0059
a0074c0179
a0075c0164
a0086c0188
 4 HG01496.hp1
HG02717.hp2
HG03942.hp1
others(1): Show 
HG01496.hp1
HG02717.hp2
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5634A>T
c.5634A>T
 p.Ala1878Ala
p.Ala1878Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5771/18335 5634/17388 1878/5795 chr14 104949817
chr14:104949817 T
T
 G
G
 4 a0069c0184
a0080c0180
a0081c0173
others(1): Show 
a0069c0184
a0080c0180
a0081c0173
a0133c0097
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5634A>C
c.5634A>C
 p.Ala1878Ala
p.Ala1878Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5771/18335 5634/17388 1878/5795 chr14 104949817
chr14:104949820 A
A
 G
G
 5 a0054c0059
a0069c0184
a0080c0180
others(2): Show 
a0054c0059
a0069c0184
a0080c0180
a0081c0173
a0086c0188
 5 HG01167.hp2
HG01496.hp1
HG03195.hp2
others(2): Show 
HG01167.hp2
HG01496.hp1
HG03195.hp2
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5631T>C
c.5631T>C
 p.Ser1877Ser
p.Ser1877Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5768/18335 5631/17388 1877/5795 chr14 104949820
chr14:104949823 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5628T>C
c.5628T>C
 p.Pro1876Pro
p.Pro1876Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5765/18335 5628/17388 1876/5795 chr14 104949823
chr14:104949832 A
A
 T
T
 3 a0074c0179
a0075c0164
a0086c0188
a0074c0179
a0075c0164
a0086c0188
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5619T>A
c.5619T>A
 p.Ile1873Ile
p.Ile1873Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5756/18335 5619/17388 1873/5795 chr14 104949832
chr14:104949838 G
G
 C
C
 4 a0074c0179
a0075c0164
a0086c0188
others(1): Show 
a0074c0179
a0075c0164
a0086c0188
a0152c0146
 4 HG00673.hp2
HG02717.hp2
HG03942.hp1
others(1): Show 
HG00673.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5613C>G
c.5613C>G
 p.Leu1871Leu
p.Leu1871Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5750/18335 5613/17388 1871/5795 chr14 104949838
chr14:104949844 C
C
 A
A
 11 a0003c0129
a0065c0203
a0069c0184
others(8): Show 
a0003c0129
a0065c0203
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0133c0097
a0136c0140
a0171c0107
 11 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(8): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03195.hp2
HG03942.hp1
HG03942.hp2
HG04184.hp2
NA18747.hp1
NA18948.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.5607G>T
c.5607G>T
 p.Thr1869Thr
p.Thr1869Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5744/18335 5607/17388 1869/5795 chr14 104949844
chr14:104949853 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5598C>T
c.5598C>T
 p.Leu1866Leu
p.Leu1866Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5735/18335 5598/17388 1866/5795 chr14 104949853
chr14:104949853 G
G
 C
C
 3 a0080c0180
a0123c0233
a0136c0140
a0080c0180
a0123c0233
a0136c0140
 3 HG01074.hp2
HG03195.hp2
HG04184.hp2
HG01074.hp2
HG03195.hp2
HG04184.hp2
 synonymous_variant LOW c.5598C>G
c.5598C>G
 p.Leu1866Leu
p.Leu1866Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5735/18335 5598/17388 1866/5795 chr14 104949853
chr14:104949862 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5589G>A
c.5589G>A
 p.Gln1863Gln
p.Gln1863Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5726/18335 5589/17388 1863/5795 chr14 104949862
chr14:104949877 G
G
 A
A
 3 a0046c0032
a0074c0179
a0075c0164
a0046c0032
a0074c0179
a0075c0164
 4 HG00642.hp2
HG00738.hp1
HG02717.hp2
others(1): Show 
HG00642.hp2
HG00738.hp1
HG02717.hp2
NA20129.hp2
 synonymous_variant LOW c.5574C>T
c.5574C>T
 p.Ser1858Ser
p.Ser1858Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5711/18335 5574/17388 1858/5795 chr14 104949877
chr14:104949886 G
G
 A
A
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5565C>T
c.5565C>T
 p.Ala1855Ala
p.Ala1855Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5702/18335 5565/17388 1855/5795 chr14 104949886
chr14:104949889 C
C
 T
T
 5 a0044c0049
a0069c0184
a0080c0180
others(2): Show 
a0044c0049
a0069c0184
a0080c0180
a0081c0173
a0133c0097
 6 HG01167.hp2
HG02630.hp2
HG02896.hp2
others(3): Show 
HG01167.hp2
HG02630.hp2
HG02896.hp2
HG02897.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5562G>A
c.5562G>A
 p.Glu1854Glu
p.Glu1854Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5699/18335 5562/17388 1854/5795 chr14 104949889
chr14:104949898 C
C
 G
G
 1 a0046c0032
a0046c0032
 2 HG00642.hp2
HG00738.hp1
HG00642.hp2
HG00738.hp1
 synonymous_variant LOW c.5553G>C
c.5553G>C
 p.Pro1851Pro
p.Pro1851Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5690/18335 5553/17388 1851/5795 chr14 104949898
chr14:104949901 C
C
 T
T
 1 a0046c0032
a0046c0032
 2 HG00642.hp2
HG00738.hp1
HG00642.hp2
HG00738.hp1
 synonymous_variant LOW c.5550G>A
c.5550G>A
 p.Ala1850Ala
p.Ala1850Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5687/18335 5550/17388 1850/5795 chr14 104949901
chr14:104949916 C
C
 G
G
 1 a0015c0125
a0015c0125
 1 HG01975.hp1
HG01975.hp1
 synonymous_variant LOW c.5535G>C
c.5535G>C
 p.Ser1845Ser
p.Ser1845Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5672/18335 5535/17388 1845/5795 chr14 104949916
chr14:104949916 C
C
 T
T
 4 a0002c0031
a0064c0165
a0074c0179
others(1): Show 
a0002c0031
a0064c0165
a0074c0179
a0075c0164
 5 HG00597.hp1
HG02717.hp2
HG03130.hp1
others(2): Show 
HG00597.hp1
HG02717.hp2
HG03130.hp1
NA18967.hp1
NA20129.hp2
 synonymous_variant LOW c.5535G>A
c.5535G>A
 p.Ser1845Ser
p.Ser1845Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5672/18335 5535/17388 1845/5795 chr14 104949916
chr14:104949919 G
G
 C
C
 3 a0015c0125
a0100c0062
a0133c0097
a0015c0125
a0100c0062
a0133c0097
 3 HG01975.hp1
HG02630.hp2
NA19030.hp2
HG01975.hp1
HG02630.hp2
NA19030.hp2
 synonymous_variant LOW c.5532C>G
c.5532C>G
 p.Ala1844Ala
p.Ala1844Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5669/18335 5532/17388 1844/5795 chr14 104949919
chr14:104949925 G
G
 A
A
 2 a0015c0125
a0079c0183
a0015c0125
a0079c0183
 2 HG01975.hp1
HG03098.hp1
HG01975.hp1
HG03098.hp1
 synonymous_variant LOW c.5526C>T
c.5526C>T
 p.Ile1842Ile
p.Ile1842Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5663/18335 5526/17388 1842/5795 chr14 104949925
chr14:104949934 G
G
 C
C
 5 a0055c0205
a0070c0170
a0195c0243
others(2): Show 
a0055c0205
a0070c0170
a0195c0243
a0204c0053
a0205c0245
 5 HG00733.hp1
HG02109.hp1
HG02723.hp2
others(2): Show 
HG00733.hp1
HG02109.hp1
HG02723.hp2
HG03209.hp1
HG03225.hp1
 synonymous_variant LOW c.5517C>G
c.5517C>G
 p.Gly1839Gly
p.Gly1839Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5654/18335 5517/17388 1839/5795 chr14 104949934
chr14:104949937 T
T
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.5514A>T
c.5514A>T
 p.Pro1838Pro
p.Pro1838Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5651/18335 5514/17388 1838/5795 chr14 104949937
chr14:104949943 A
A
 C
C
 14 a0023c0072
a0055c0205
a0058c0155
others(11): Show 
a0023c0072
a0055c0205
a0058c0155
a0069c0184
a0070c0170
a0073c0171
a0078c0175
a0080c0180
a0081c0173
a0099c0061
a0114c0225
a0133c0097
a0178c0108
a0205c0245
 14 HG00733.hp1
HG01167.hp2
HG01175.hp1
others(11): Show 
HG00733.hp1
HG01167.hp2
HG01175.hp1
HG01891.hp2
HG02109.hp1
HG02451.hp1
HG02630.hp2
HG02717.hp1
HG03195.hp2
HG03209.hp1
HG03688.hp1
NA18747.hp2
NA18970.hp1
NA20129.hp1
 synonymous_variant LOW c.5508T>G
c.5508T>G
 p.Ser1836Ser
p.Ser1836Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5645/18335 5508/17388 1836/5795 chr14 104949943
chr14:104949943 A
A
 T
T
 3 a0018c0017
a0035c0023
a0149c0086
a0018c0017
a0035c0023
a0149c0086
 6 HG00621.hp2
HG02027.hp1
NA18948.hp2
others(3): Show 
HG00621.hp2
HG02027.hp1
NA18948.hp2
NA18977.hp2
NA18981.hp2
NA19081.hp2
 synonymous_variant LOW c.5508T>A
c.5508T>A
 p.Ser1836Ser
p.Ser1836Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5645/18335 5508/17388 1836/5795 chr14 104949943
chr14:104949952 G
G
 A
A
 2 a0041c0099
a0064c0165
a0041c0099
a0064c0165
 2 HG01993.hp2
HG03130.hp1
HG01993.hp2
HG03130.hp1
 synonymous_variant LOW c.5499C>T
c.5499C>T
 p.Phe1833Phe
p.Phe1833Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5636/18335 5499/17388 1833/5795 chr14 104949952
chr14:104949955 C
C
 T
T
 9 a0041c0099
a0069c0184
a0071c0177
others(6): Show 
a0041c0099
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0080c0180
a0081c0173
a0126c0240
a0133c0097
 9 HG01099.hp2
HG01167.hp2
HG01993.hp2
others(6): Show 
HG01099.hp2
HG01167.hp2
HG01993.hp2
HG02257.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5496G>A
c.5496G>A
 p.Ser1832Ser
p.Ser1832Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5633/18335 5496/17388 1832/5795 chr14 104949955
chr14:104949958 C
C
 T
T
 9 a0018c0017
a0041c0099
a0069c0184
others(6): Show 
a0018c0017
a0041c0099
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0080c0180
a0126c0240
a0133c0097
 11 HG01099.hp2
HG01993.hp2
HG02257.hp1
others(8): Show 
HG01099.hp2
HG01993.hp2
HG02257.hp1
HG02630.hp2
HG02717.hp1
HG02723.hp1
HG03195.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 synonymous_variant LOW c.5493G>A
c.5493G>A
 p.Pro1831Pro
p.Pro1831Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5630/18335 5493/17388 1831/5795 chr14 104949958
chr14:104949991 G
G
 A
A
 3 a0069c0184
a0080c0180
a0133c0097
a0069c0184
a0080c0180
a0133c0097
 3 HG02630.hp2
HG03195.hp2
NA20129.hp1
HG02630.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5460C>T
c.5460C>T
 p.Asp1820Asp
p.Asp1820Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5597/18335 5460/17388 1820/5795 chr14 104949991
chr14:104950000 A
A
 T
T
 2 a0021c0219
a0133c0097
a0021c0219
a0133c0097
 2 HG02165.hp2
HG02630.hp2
HG02165.hp2
HG02630.hp2
 synonymous_variant LOW c.5451T>A
c.5451T>A
 p.Thr1817Thr
p.Thr1817Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5588/18335 5451/17388 1817/5795 chr14 104950000
chr14:104950006 A
A
 G
G
 5 a0064c0165
a0074c0179
a0075c0164
others(2): Show 
a0064c0165
a0074c0179
a0075c0164
a0086c0188
a0196c0207
 5 HG02486.hp2
HG02717.hp2
HG03130.hp1
others(2): Show 
HG02486.hp2
HG02717.hp2
HG03130.hp1
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5445T>C
c.5445T>C
 p.Asp1815Asp
p.Asp1815Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5582/18335 5445/17388 1815/5795 chr14 104950006
chr14:104950018 C
C
 T
T
 1 a0196c0207
a0196c0207
 1 HG02486.hp2
HG02486.hp2
 synonymous_variant LOW c.5433G>A
c.5433G>A
 p.Leu1811Leu
p.Leu1811Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5570/18335 5433/17388 1811/5795 chr14 104950018
chr14:104950030 A
A
 C
C
 11 a0018c0017
a0064c0165
a0069c0184
others(8): Show 
a0018c0017
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0133c0097
a0197c0057
a0203c0210
 13 HG01167.hp2
HG02451.hp2
HG02630.hp2
others(10): Show 
HG01167.hp2
HG02451.hp2
HG02630.hp2
HG02717.hp2
HG02922.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.5421T>G
c.5421T>G
 p.Gly1807Gly
p.Gly1807Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5558/18335 5421/17388 1807/5795 chr14 104950030
chr14:104950042 C
C
 T
T
 4 a0074c0179
a0075c0164
a0086c0188
others(1): Show 
a0074c0179
a0075c0164
a0086c0188
a0114c0225
 4 HG02717.hp2
HG03688.hp1
HG03942.hp1
others(1): Show 
HG02717.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5409G>A
c.5409G>A
 p.Val1803Val
p.Val1803Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5546/18335 5409/17388 1803/5795 chr14 104950042
chr14:104950048 G
G
 A
A
 9 a0064c0165
a0069c0184
a0074c0179
others(6): Show 
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0114c0225
a0133c0097
 9 HG01167.hp2
HG02630.hp2
HG02717.hp2
others(6): Show 
HG01167.hp2
HG02630.hp2
HG02717.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.5403C>T
c.5403C>T
 p.Asp1801Asp
p.Asp1801Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5540/18335 5403/17388 1801/5795 chr14 104950048
chr14:104950057 G
G
 T
T
 5 a0069c0184
a0080c0180
a0081c0173
others(2): Show 
a0069c0184
a0080c0180
a0081c0173
a0114c0225
a0133c0097
 5 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(2): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
 synonymous_variant LOW c.5394C>A
c.5394C>A
 p.Ala1798Ala
p.Ala1798Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5531/18335 5394/17388 1798/5795 chr14 104950057
chr14:104950063 T
T
 C
C
 8 a0018c0017
a0069c0184
a0080c0180
others(5): Show 
a0018c0017
a0069c0184
a0080c0180
a0081c0173
a0090c0195
a0114c0225
a0133c0097
a0196c0207
 10 HG00597.hp2
HG01167.hp2
HG02486.hp2
others(7): Show 
HG00597.hp2
HG01167.hp2
HG02486.hp2
HG02630.hp2
HG03195.hp2
HG03688.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 synonymous_variant LOW c.5388A>G
c.5388A>G
 p.Pro1796Pro
p.Pro1796Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5525/18335 5388/17388 1796/5795 chr14 104950063
chr14:104950066 A
A
 G
G
 12 a0018c0017
a0064c0165
a0069c0184
others(9): Show 
a0018c0017
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0090c0195
a0114c0225
a0133c0097
a0196c0207
 14 HG00597.hp2
HG01167.hp2
HG02486.hp2
others(11): Show 
HG00597.hp2
HG01167.hp2
HG02486.hp2
HG02630.hp2
HG02717.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.5385T>C
c.5385T>C
 p.Ala1795Ala
p.Ala1795Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5522/18335 5385/17388 1795/5795 chr14 104950066
chr14:104950075 G
G
 A
A
 3 a0074c0179
a0075c0164
a0086c0188
a0074c0179
a0075c0164
a0086c0188
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5376C>T
c.5376C>T
 p.Asp1792Asp
p.Asp1792Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5513/18335 5376/17388 1792/5795 chr14 104950075
chr14:104950099 C
C
 A
A
 3 a0074c0179
a0075c0164
a0086c0188
a0074c0179
a0075c0164
a0086c0188
 3 HG02717.hp2
HG03942.hp1
NA20129.hp2
HG02717.hp2
HG03942.hp1
NA20129.hp2
 synonymous_variant LOW c.5352G>T
c.5352G>T
 p.Val1784Val
p.Val1784Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5489/18335 5352/17388 1784/5795 chr14 104950099
chr14:104950108 G
G
 A
A
 7 a0018c0017
a0064c0165
a0069c0184
others(4): Show 
a0018c0017
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 9 HG01167.hp2
HG02630.hp2
HG03130.hp1
others(6): Show 
HG01167.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 synonymous_variant LOW c.5343C>T
c.5343C>T
 p.Asp1781Asp
p.Asp1781Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5480/18335 5343/17388 1781/5795 chr14 104950108
chr14:104950111 G
G
 A
A
 3 a0018c0017
a0064c0165
a0086c0188
a0018c0017
a0064c0165
a0086c0188
 5 HG03130.hp1
HG03942.hp1
NA18948.hp2
others(2): Show 
HG03130.hp1
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.5340C>T
c.5340C>T
 p.Pro1780Pro
p.Pro1780Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5477/18335 5340/17388 1780/5795 chr14 104950111
chr14:104950120 C
C
 G
G
 1 a0018c0017
a0018c0017
 3 NA18948.hp2
NA18977.hp2
NA19081.hp2
NA18948.hp2
NA18977.hp2
NA19081.hp2
 synonymous_variant LOW c.5331G>C
c.5331G>C
 p.Val1777Val
p.Val1777Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5468/18335 5331/17388 1777/5795 chr14 104950120
chr14:104950123 C
C
 T
T
 7 a0018c0017
a0064c0165
a0069c0184
others(4): Show 
a0018c0017
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0133c0097
 9 HG01167.hp2
HG02630.hp2
HG03130.hp1
others(6): Show 
HG01167.hp2
HG02630.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18977.hp2
NA19081.hp2
NA20129.hp1
 synonymous_variant LOW c.5328G>A
c.5328G>A
 p.Glu1776Glu
p.Glu1776Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5465/18335 5328/17388 1776/5795 chr14 104950123
chr14:104950141 C
C
 T
T
 2 a0064c0165
a0086c0188
a0064c0165
a0086c0188
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 synonymous_variant LOW c.5310G>A
c.5310G>A
 p.Leu1770Leu
p.Leu1770Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5447/18335 5310/17388 1770/5795 chr14 104950141
chr14:104950162 G
G
 A
A
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5289C>T
c.5289C>T
 p.Val1763Val
p.Val1763Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5426/18335 5289/17388 1763/5795 chr14 104950162
chr14:104950165 G
G
 A
A
 4 a0069c0184
a0080c0180
a0081c0173
others(1): Show 
a0069c0184
a0080c0180
a0081c0173
a0133c0097
 4 HG01167.hp2
HG02630.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG02630.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5286C>T
c.5286C>T
 p.Asp1762Asp
p.Asp1762Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5423/18335 5286/17388 1762/5795 chr14 104950165
chr14:104950171 C
C
 T
T
 2 a0064c0165
a0086c0188
a0064c0165
a0086c0188
 2 HG03130.hp1
HG03942.hp1
HG03130.hp1
HG03942.hp1
 synonymous_variant LOW c.5280G>A
c.5280G>A
 p.Gln1760Gln
p.Gln1760Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5417/18335 5280/17388 1760/5795 chr14 104950171
chr14:104950174 G
G
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5277C>T
c.5277C>T
 p.Pro1759Pro
p.Pro1759Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5414/18335 5277/17388 1759/5795 chr14 104950174
chr14:104950177 G
G
 C
C
 3 a0069c0184
a0080c0180
a0081c0173
a0069c0184
a0080c0180
a0081c0173
 3 HG01167.hp2
HG03195.hp2
NA20129.hp1
HG01167.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5274C>G
c.5274C>G
 p.Gly1758Gly
p.Gly1758Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5411/18335 5274/17388 1758/5795 chr14 104950177
chr14:104950186 G
G
 A
A
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.5265C>T
c.5265C>T
 p.Ala1755Ala
p.Ala1755Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5402/18335 5265/17388 1755/5795 chr14 104950186
chr14:104950195 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5256C>T
c.5256C>T
 p.Pro1752Pro
p.Pro1752Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5393/18335 5256/17388 1752/5795 chr14 104950195
chr14:104950222 C
C
 T
T
 6 a0061c0166
a0069c0184
a0070c0170
others(3): Show 
a0061c0166
a0069c0184
a0070c0170
a0080c0180
a0081c0173
a0089c0196
 6 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(3): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
HG03209.hp1
NA20129.hp1
 synonymous_variant LOW c.5229G>A
c.5229G>A
 p.Lys1743Lys
p.Lys1743Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5366/18335 5229/17388 1743/5795 chr14 104950222
chr14:104950228 G
G
 C
C
 10 a0061c0166
a0064c0165
a0069c0184
others(7): Show 
a0061c0166
a0064c0165
a0069c0184
a0070c0170
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
 10 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(7): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03688.hp1
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5223C>G
c.5223C>G
 p.Leu1741Leu
p.Leu1741Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5360/18335 5223/17388 1741/5795 chr14 104950228
chr14:104950255 G
G
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.5196C>G
c.5196C>G
 p.Pro1732Pro
p.Pro1732Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5333/18335 5196/17388 1732/5795 chr14 104950255
chr14:104950258 A
A
 C
C
 8 a0061c0166
a0064c0165
a0069c0184
others(5): Show 
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0133c0097
 8 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA20129.hp1
 synonymous_variant LOW c.5193T>G
c.5193T>G
 p.Leu1731Leu
p.Leu1731Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5330/18335 5193/17388 1731/5795 chr14 104950258
chr14:104950261 G
G
 A
A
 7 a0061c0166
a0064c0165
a0069c0184
others(4): Show 
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0089c0196
a0133c0097
 7 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5190C>T
c.5190C>T
 p.Pro1730Pro
p.Pro1730Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5327/18335 5190/17388 1730/5795 chr14 104950261
chr14:104950270 C
C
 T
T
 3 a0086c0188
a0114c0225
a0133c0097
a0086c0188
a0114c0225
a0133c0097
 3 HG02630.hp2
HG03688.hp1
HG03942.hp1
HG02630.hp2
HG03688.hp1
HG03942.hp1
 synonymous_variant LOW c.5181G>A
c.5181G>A
 p.Pro1727Pro
p.Pro1727Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5318/18335 5181/17388 1727/5795 chr14 104950270
chr14:104950288 T
T
 C
C
 2 a0064c0165
a0114c0225
a0064c0165
a0114c0225
 2 HG03130.hp1
HG03688.hp1
HG03130.hp1
HG03688.hp1
 synonymous_variant LOW c.5163A>G
c.5163A>G
 p.Gln1721Gln
p.Gln1721Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5300/18335 5163/17388 1721/5795 chr14 104950288
chr14:104950312 G
G
 A
A
 40 a0001c0001
a0001c0003
a0001c0045
others(37): Show 
a0001c0001
a0001c0003
a0001c0045
a0011c0012
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0052c0208
a0052c0209
a0061c0166
a0065c0203
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0104c0212
a0105c0211
a0107c0234
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0121c0231
a0123c0233
a0133c0097
 65 HG00099.hp1
HG00323.hp1
HG00642.hp1
others(62): Show 
HG00099.hp1
HG00323.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02630.hp2
HG02698.hp1
HG02738.hp1
HG03017.hp2
HG03195.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.5139C>T
c.5139C>T
 p.Ala1713Ala
p.Ala1713Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5276/18335 5139/17388 1713/5795 chr14 104950312
chr14:104950318 A
A
 G
G
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.5133T>C
c.5133T>C
 p.Pro1711Pro
p.Pro1711Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5270/18335 5133/17388 1711/5795 chr14 104950318
chr14:104950327 A
A
 T
T
 5 a0061c0166
a0069c0184
a0080c0180
others(2): Show 
a0061c0166
a0069c0184
a0080c0180
a0081c0173
a0089c0196
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5124T>A
c.5124T>A
 p.Ile1708Ile
p.Ile1708Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5261/18335 5124/17388 1708/5795 chr14 104950327
chr14:104950333 G
G
 C
C
 5 a0061c0166
a0069c0184
a0080c0180
others(2): Show 
a0061c0166
a0069c0184
a0080c0180
a0081c0173
a0089c0196
 5 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(2): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5118C>G
c.5118C>G
 p.Leu1706Leu
p.Leu1706Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5255/18335 5118/17388 1706/5795 chr14 104950333
chr14:104950348 C
C
 A
A
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.5103G>T
c.5103G>T
 p.Leu1701Leu
p.Leu1701Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5240/18335 5103/17388 1701/5795 chr14 104950348
chr14:104950348 C
C
 G
G
 123 a0001c0001
a0001c0003
a0001c0045
others(120): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0045c0024
a0051c0051
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0105c0211
a0107c0234
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0121c0231
a0123c0233
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0133c0097
a0141c0092
a0150c0082
a0156c0144
a0161c0079
a0170c0105
a0186c0132
a0187c0131
a0188c0074
a0189c0073
a0193c0138
a0194c0136
a0195c0243
a0196c0207
a0197c0057
a0203c0210
a0204c0053
a0205c0245
a0207c0206
a0211c0247
 176 HG00099.hp1
HG00323.hp1
HG00438.hp2
others(173): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp1
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18961.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19077.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.5103G>C
c.5103G>C
 p.Leu1701Leu
p.Leu1701Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5240/18335 5103/17388 1701/5795 chr14 104950348
chr14:104950357 C
C
 T
T
 2 a0079c0183
a0114c0225
a0079c0183
a0114c0225
 2 HG03098.hp1
HG03688.hp1
HG03098.hp1
HG03688.hp1
 synonymous_variant LOW c.5094G>A
c.5094G>A
 p.Gln1698Gln
p.Gln1698Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5231/18335 5094/17388 1698/5795 chr14 104950357
chr14:104950372 G
G
 A
A
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.5079C>T
c.5079C>T
 p.Ser1693Ser
p.Ser1693Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5216/18335 5079/17388 1693/5795 chr14 104950372
chr14:104950378 A
A
 G
G
 16 a0020c0018
a0022c0215
a0028c0019
others(13): Show 
a0020c0018
a0022c0215
a0028c0019
a0047c0106
a0055c0205
a0061c0166
a0064c0165
a0069c0184
a0070c0170
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
a0205c0245
 19 HG00733.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00733.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02109.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03654.hp1
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA18963.hp2
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.5073T>C
c.5073T>C
 p.Asp1691Asp
p.Asp1691Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5210/18335 5073/17388 1691/5795 chr14 104950378
chr14:104950381 A
A
 G
G
 13 a0020c0018
a0028c0019
a0055c0205
others(10): Show 
a0020c0018
a0028c0019
a0055c0205
a0061c0166
a0064c0165
a0069c0184
a0070c0170
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0133c0097
a0205c0245
 16 HG00733.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00733.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02109.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.5070T>C
c.5070T>C
 p.Ala1690Ala
p.Ala1690Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5207/18335 5070/17388 1690/5795 chr14 104950381
chr14:104950384 T
T
 C
C
 12 a0020c0018
a0028c0019
a0055c0205
others(9): Show 
a0020c0018
a0028c0019
a0055c0205
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0133c0097
a0205c0245
 15 HG00733.hp1
HG01167.hp2
HG01884.hp1
others(12): Show 
HG00733.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02109.hp1
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.5067A>G
c.5067A>G
 p.Glu1689Glu
p.Glu1689Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5204/18335 5067/17388 1689/5795 chr14 104950384
chr14:104950393 C
C
 G
G
 3 a0020c0018
a0064c0165
a0086c0188
a0020c0018
a0064c0165
a0086c0188
 5 HG02056.hp1
HG03130.hp1
HG03942.hp1
others(2): Show 
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.5058G>C
c.5058G>C
 p.Pro1686Pro
p.Pro1686Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5195/18335 5058/17388 1686/5795 chr14 104950393
chr14:104950396 C
C
 T
T
 6 a0020c0018
a0064c0165
a0069c0184
others(3): Show 
a0020c0018
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
 8 HG01167.hp2
HG02056.hp1
HG03130.hp1
others(5): Show 
HG01167.hp2
HG02056.hp1
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.5055G>A
c.5055G>A
 p.Glu1685Glu
p.Glu1685Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5192/18335 5055/17388 1685/5795 chr14 104950396
chr14:104950405 A
A
 G
G
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.5046T>C
c.5046T>C
 p.Asp1682Asp
p.Asp1682Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5183/18335 5046/17388 1682/5795 chr14 104950405
chr14:104950411 C
C
 G
G
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.5040G>C
c.5040G>C
 p.Ser1680Ser
p.Ser1680Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5177/18335 5040/17388 1680/5795 chr14 104950411
chr14:104950411 C
C
 T
T
 4 a0069c0184
a0080c0180
a0081c0173
others(1): Show 
a0069c0184
a0080c0180
a0081c0173
a0089c0196
 4 HG01167.hp2
HG03017.hp2
HG03195.hp2
others(1): Show 
HG01167.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.5040G>A
c.5040G>A
 p.Ser1680Ser
p.Ser1680Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5177/18335 5040/17388 1680/5795 chr14 104950411
chr14:104950420 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.5031C>T
c.5031C>T
 p.Ile1677Ile
p.Ile1677Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5168/18335 5031/17388 1677/5795 chr14 104950420
chr14:104950429 G
G
 C
C
 3 a0009c0043
a0009c0185
a0009c0186
a0009c0043
a0009c0185
a0009c0186
 4 NA18986.hp1
NA19011.hp1
NA19063.hp1
others(1): Show 
NA18986.hp1
NA19011.hp1
NA19063.hp1
NA19074.hp1
 synonymous_variant LOW c.5022C>G
c.5022C>G
 p.Gly1674Gly
p.Gly1674Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5159/18335 5022/17388 1674/5795 chr14 104950429
chr14:104950432 T
T
 A
A
 1 a0161c0079
a0161c0079
 1 HG03516.hp2
HG03516.hp2
 synonymous_variant LOW c.5019A>T
c.5019A>T
 p.Pro1673Pro
p.Pro1673Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5156/18335 5019/17388 1673/5795 chr14 104950432
chr14:104950438 C
C
 A
A
 12 a0020c0018
a0061c0166
a0069c0184
others(9): Show 
a0020c0018
a0061c0166
a0069c0184
a0080c0180
a0081c0173
a0089c0196
a0133c0097
a0141c0092
a0161c0079
a0208c0056
a0209c0054
a0210c0055
 14 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(11): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG03017.hp2
HG03195.hp1
HG03195.hp2
HG03516.hp2
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.5013G>T
c.5013G>T
 p.Ser1671Ser
p.Ser1671Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5150/18335 5013/17388 1671/5795 chr14 104950438
chr14:104950438 C
C
 T
T
 2 a0064c0165
a0196c0207
a0064c0165
a0196c0207
 2 HG02486.hp2
HG03130.hp1
HG02486.hp2
HG03130.hp1
 synonymous_variant LOW c.5013G>A
c.5013G>A
 p.Ser1671Ser
p.Ser1671Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5150/18335 5013/17388 1671/5795 chr14 104950438
chr14:104950441 C
C
 A
A
 1 a0086c0188
a0086c0188
 1 HG03942.hp1
HG03942.hp1
 synonymous_variant LOW c.5010G>T
c.5010G>T
 p.Val1670Val
p.Val1670Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5147/18335 5010/17388 1670/5795 chr14 104950441
chr14:104950441 C
C
 T
T
 1 a0077c0182
a0077c0182
 1 HG03471.hp1
HG03471.hp1
 synonymous_variant LOW c.5010G>A
c.5010G>A
 p.Val1670Val
p.Val1670Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5147/18335 5010/17388 1670/5795 chr14 104950441
chr14:104950447 A
A
 G
G
 64 a0005c0027
a0006c0006
a0006c0200
others(61): Show 
a0005c0027
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0012c0039
a0013c0010
a0017c0015
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0028c0019
a0036c0030
a0053c0246
a0055c0205
a0061c0166
a0065c0203
a0066c0202
a0068c0169
a0069c0184
a0071c0177
a0072c0178
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0101c0063
a0102c0064
a0103c0065
a0104c0212
a0114c0225
a0116c0229
a0120c0214
a0129c0133
a0130c0075
a0133c0097
a0136c0140
a0148c0081
a0188c0074
a0189c0073
a0191c0150
a0196c0207
a0197c0057
a0200c0153
a0205c0245
a0207c0206
a0208c0056
a0211c0247
 87 HG00099.hp2
HG00558.hp2
HG00597.hp2
others(84): Show 
HG00099.hp2
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00733.hp1
HG01099.hp2
HG01167.hp2
HG01517.hp1
HG01884.hp1
HG01978.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp2
HG02257.hp1
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02486.hp2
HG02559.hp1
HG02602.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp2
HG04115.hp2
HG04184.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18952.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18983.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp1
NA19074.hp1
NA20129.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
 synonymous_variant LOW c.5004T>C
c.5004T>C
 p.Phe1668Phe
p.Phe1668Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5141/18335 5004/17388 1668/5795 chr14 104950447
chr14:104950450 T
T
 C
C
 9 a0020c0018
a0064c0165
a0069c0184
others(6): Show 
a0020c0018
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0116c0229
a0191c0150
 11 HG01167.hp2
HG02056.hp1
HG02280.hp1
others(8): Show 
HG01167.hp2
HG02056.hp1
HG02280.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20905.hp1
 synonymous_variant LOW c.5001A>G
c.5001A>G
 p.Ser1667Ser
p.Ser1667Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5138/18335 5001/17388 1667/5795 chr14 104950450
chr14:104950450 T
T
 G
G
 2 a0101c0063
a0208c0056
a0101c0063
a0208c0056
 2 HG00639.hp1
HG02647.hp2
HG00639.hp1
HG02647.hp2
 synonymous_variant LOW c.5001A>C
c.5001A>C
 p.Ser1667Ser
p.Ser1667Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5138/18335 5001/17388 1667/5795 chr14 104950450
chr14:104950453 T
T
 C
C
 18 a0012c0039
a0013c0010
a0020c0018
others(15): Show 
a0012c0039
a0013c0010
a0020c0018
a0064c0165
a0067c0058
a0069c0184
a0080c0180
a0081c0173
a0082c0174
a0086c0188
a0089c0196
a0090c0195
a0103c0065
a0104c0212
a0114c0225
a0133c0097
a0191c0150
a0203c0210
 24 HG00597.hp2
HG00609.hp2
HG00621.hp1
others(21): Show 
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG01167.hp2
HG02015.hp2
HG02056.hp1
HG02129.hp2
HG02155.hp1
HG02280.hp1
HG02451.hp2
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18522.hp2
NA18954.hp1
NA18983.hp1
NA19012.hp2
NA19030.hp1
NA19070.hp1
NA20129.hp1
NA20300.hp2
 synonymous_variant LOW c.4998A>G
c.4998A>G
 p.Pro1666Pro
p.Pro1666Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5135/18335 4998/17388 1666/5795 chr14 104950453
chr14:104950453 T
T
 G
G
 2 a0101c0063
a0208c0056
a0101c0063
a0208c0056
 2 HG00639.hp1
HG02647.hp2
HG00639.hp1
HG02647.hp2
 synonymous_variant LOW c.4998A>C
c.4998A>C
 p.Pro1666Pro
p.Pro1666Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5135/18335 4998/17388 1666/5795 chr14 104950453
chr14:104950486 G
G
 A
A
 42 a0004c0005
a0004c0157
a0004c0158
others(39): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0027c0189
a0027c0190
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0062c0167
a0066c0202
a0070c0170
a0076c0163
a0077c0182
a0079c0183
a0083c0176
a0084c0181
a0087c0187
a0088c0198
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0130c0075
a0185c0126
a0197c0057
a0204c0053
a0207c0206
a0211c0247
 62 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(59): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG01099.hp1
HG01168.hp2
HG01175.hp2
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02273.hp1
HG02602.hp2
HG02698.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02922.hp2
HG02976.hp2
HG03098.hp1
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19058.hp2
NA19065.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 synonymous_variant LOW c.4965C>T
c.4965C>T
 p.Asp1655Asp
p.Asp1655Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5102/18335 4965/17388 1655/5795 chr14 104950486
chr14:104950495 A
A
 T
T
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.4956T>A
c.4956T>A
 p.Thr1652Thr
p.Thr1652Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5093/18335 4956/17388 1652/5795 chr14 104950495
chr14:104950501 C
C
 A
A
 6 a0034c0048
a0051c0051
a0082c0174
others(3): Show 
a0034c0048
a0051c0051
a0082c0174
a0132c0236
a0133c0097
a0195c0243
 8 HG01167.hp1
HG01169.hp1
HG02630.hp2
others(5): Show 
HG01167.hp1
HG01169.hp1
HG02630.hp2
HG03098.hp2
HG03225.hp1
HG03540.hp1
NA18522.hp2
NA18906.hp2
 synonymous_variant LOW c.4950G>T
c.4950G>T
 p.Ala1650Ala
p.Ala1650Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5087/18335 4950/17388 1650/5795 chr14 104950501
chr14:104950501 C
C
 G
G
 9 a0020c0018
a0061c0166
a0064c0165
others(6): Show 
a0020c0018
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
 11 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.4950G>C
c.4950G>C
 p.Ala1650Ala
p.Ala1650Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5087/18335 4950/17388 1650/5795 chr14 104950501
chr14:104950510 G
G
 A
A
 1 a0020c0018
a0020c0018
 3 HG02056.hp1
NA18954.hp1
NA19012.hp2
HG02056.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4941C>T
c.4941C>T
 p.Ala1647Ala
p.Ala1647Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5078/18335 4941/17388 1647/5795 chr14 104950510
chr14:104950510 G
G
 C
C
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4941C>G
c.4941C>G
 p.Ala1647Ala
p.Ala1647Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5078/18335 4941/17388 1647/5795 chr14 104950510
chr14:104950516 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4935C>T
c.4935C>T
 p.Ser1645Ser
p.Ser1645Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5072/18335 4935/17388 1645/5795 chr14 104950516
chr14:104950537 C
C
 T
T
 7 a0020c0018
a0061c0166
a0069c0184
others(4): Show 
a0020c0018
a0061c0166
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 9 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG03017.hp2
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.4914G>A
c.4914G>A
 p.Ala1638Ala
p.Ala1638Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5051/18335 4914/17388 1638/5795 chr14 104950537
chr14:104950540 A
A
 G
G
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4911T>C
c.4911T>C
 p.Gly1637Gly
p.Gly1637Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5048/18335 4911/17388 1637/5795 chr14 104950540
chr14:104950548 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4903C>T
c.4903C>T
 p.Leu1635Leu
p.Leu1635Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5040/18335 4903/17388 1635/5795 chr14 104950548
chr14:104950552 T
T
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4899A>T
c.4899A>T
 p.Ala1633Ala
p.Ala1633Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5036/18335 4899/17388 1633/5795 chr14 104950552
chr14:104950552 T
T
 G
G
 8 a0020c0018
a0061c0166
a0064c0165
others(5): Show 
a0020c0018
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 10 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(7): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
 synonymous_variant LOW c.4899A>C
c.4899A>C
 p.Ala1633Ala
p.Ala1633Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5036/18335 4899/17388 1633/5795 chr14 104950552
chr14:104950558 C
C
 T
T
 6 a0061c0166
a0064c0165
a0069c0184
others(3): Show 
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0089c0196
 6 HG01167.hp2
HG01884.hp1
HG03017.hp2
others(3): Show 
HG01167.hp2
HG01884.hp1
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.4893G>A
c.4893G>A
 p.Pro1631Pro
p.Pro1631Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5030/18335 4893/17388 1631/5795 chr14 104950558
chr14:104950570 G
G
 A
A
 7 a0061c0166
a0064c0165
a0069c0184
others(4): Show 
a0061c0166
a0064c0165
a0069c0184
a0080c0180
a0081c0173
a0089c0196
a0133c0097
 7 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.4881C>T
c.4881C>T
 p.Asp1627Asp
p.Asp1627Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5018/18335 4881/17388 1627/5795 chr14 104950570
chr14:104950582 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4869C>T
c.4869C>T
 p.Ser1623Ser
p.Ser1623Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 5006/18335 4869/17388 1623/5795 chr14 104950582
chr14:104950600 C
C
 G
G
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.4851G>C
c.4851G>C
 p.Val1617Val
p.Val1617Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4988/18335 4851/17388 1617/5795 chr14 104950600
chr14:104950603 A
A
 G
G
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4848T>C
c.4848T>C
 p.Asp1616Asp
p.Asp1616Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4985/18335 4848/17388 1616/5795 chr14 104950603
chr14:104950606 G
G
 A
A
 15 a0026c0042
a0028c0019
a0061c0166
others(12): Show 
a0026c0042
a0028c0019
a0061c0166
a0068c0169
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0089c0196
a0118c0230
 17 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(14): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4845C>T
c.4845C>T
 p.Pro1615Pro
p.Pro1615Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4982/18335 4845/17388 1615/5795 chr14 104950606
chr14:104950612 T
T
 C
C
 3 a0020c0018
a0086c0188
a0133c0097
a0020c0018
a0086c0188
a0133c0097
 5 HG02056.hp1
HG02630.hp2
HG03942.hp1
others(2): Show 
HG02056.hp1
HG02630.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4839A>G
c.4839A>G
 p.Thr1613Thr
p.Thr1613Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4976/18335 4839/17388 1613/5795 chr14 104950612
chr14:104950618 T
T
 C
C
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4833A>G
c.4833A>G
 p.Glu1611Glu
p.Glu1611Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4970/18335 4833/17388 1611/5795 chr14 104950618
chr14:104950621 C
C
 T
T
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4830G>A
c.4830G>A
 p.Val1610Val
p.Val1610Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4967/18335 4830/17388 1610/5795 chr14 104950621
chr14:104950627 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4824C>T
c.4824C>T
 p.Pro1608Pro
p.Pro1608Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4961/18335 4824/17388 1608/5795 chr14 104950627
chr14:104950630 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4821C>T
c.4821C>T
 p.Gly1607Gly
p.Gly1607Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4958/18335 4821/17388 1607/5795 chr14 104950630
chr14:104950636 C
C
 T
T
 8 a0061c0166
a0064c0165
a0069c0184
others(5): Show 
a0061c0166
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4815G>A
c.4815G>A
 p.Leu1605Leu
p.Leu1605Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4952/18335 4815/17388 1605/5795 chr14 104950636
chr14:104950645 C
C
 T
T
 1 a0064c0165
a0064c0165
 1 HG03130.hp1
HG03130.hp1
 synonymous_variant LOW c.4806G>A
c.4806G>A
 p.Lys1602Lys
p.Lys1602Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4943/18335 4806/17388 1602/5795 chr14 104950645
chr14:104950657 A
A
 G
G
 13 a0020c0018
a0022c0044
a0061c0166
others(10): Show 
a0020c0018
a0022c0044
a0061c0166
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0105c0211
a0133c0097
 16 HG00099.hp1
HG00741.hp2
HG01167.hp2
others(13): Show 
HG00099.hp1
HG00741.hp2
HG01167.hp2
HG01433.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4794T>C
c.4794T>C
 p.Val1598Val
p.Val1598Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4931/18335 4794/17388 1598/5795 chr14 104950657
chr14:104950660 A
A
 G
G
 8 a0061c0166
a0064c0165
a0069c0184
others(5): Show 
a0061c0166
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4791T>C
c.4791T>C
 p.Asp1597Asp
p.Asp1597Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4928/18335 4791/17388 1597/5795 chr14 104950660
chr14:104950666 C
C
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4785G>A
c.4785G>A
 p.Gln1595Gln
p.Gln1595Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4922/18335 4785/17388 1595/5795 chr14 104950666
chr14:104950669 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4782C>T
c.4782C>T
 p.Pro1594Pro
p.Pro1594Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4919/18335 4782/17388 1594/5795 chr14 104950669
chr14:104950672 C
C
 G
G
 12 a0020c0018
a0061c0166
a0064c0165
others(9): Show 
a0020c0018
a0061c0166
a0064c0165
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
 14 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(11): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4779G>C
c.4779G>C
 p.Gly1593Gly
p.Gly1593Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4916/18335 4779/17388 1593/5795 chr14 104950672
chr14:104950681 G
G
 A
A
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4770C>T
c.4770C>T
 p.Asp1590Asp
p.Asp1590Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4907/18335 4770/17388 1590/5795 chr14 104950681
chr14:104950684 C
C
 T
T
 1 a0133c0097
a0133c0097
 1 HG02630.hp2
HG02630.hp2
 synonymous_variant LOW c.4767G>A
c.4767G>A
 p.Val1589Val
p.Val1589Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4904/18335 4767/17388 1589/5795 chr14 104950684
chr14:104950690 G
G
 A
A
 2 a0114c0225
a0140c0093
a0114c0225
a0140c0093
 2 HG03688.hp1
NA18950.hp1
HG03688.hp1
NA18950.hp1
 synonymous_variant LOW c.4761C>T
c.4761C>T
 p.Pro1587Pro
p.Pro1587Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4898/18335 4761/17388 1587/5795 chr14 104950690
chr14:104950705 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4746C>T
c.4746C>T
 p.Pro1582Pro
p.Pro1582Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4883/18335 4746/17388 1582/5795 chr14 104950705
chr14:104950717 T
T
 C
C
 11 a0020c0018
a0061c0166
a0069c0184
others(8): Show 
a0020c0018
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
 13 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(10): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4734A>G
c.4734A>G
 p.Lys1578Lys
p.Lys1578Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4871/18335 4734/17388 1578/5795 chr14 104950717
chr14:104950750 G
G
 A
A
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4701C>T
c.4701C>T
 p.Ser1567Ser
p.Ser1567Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4838/18335 4701/17388 1567/5795 chr14 104950750
chr14:104950750 G
G
 C
C
 2 a0114c0225
a0133c0097
a0114c0225
a0133c0097
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 synonymous_variant LOW c.4701C>G
c.4701C>G
 p.Ser1567Ser
p.Ser1567Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4838/18335 4701/17388 1567/5795 chr14 104950750
chr14:104950756 A
A
 G
G
 10 a0020c0018
a0061c0166
a0069c0184
others(7): Show 
a0020c0018
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0133c0097
 12 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(9): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4695T>C
c.4695T>C
 p.Pro1565Pro
p.Pro1565Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4832/18335 4695/17388 1565/5795 chr14 104950756
chr14:104950765 T
T
 C
C
 106 a0001c0001
a0001c0003
a0001c0045
others(103): Show 
a0001c0001
a0001c0003
a0001c0045
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0052c0208
a0052c0209
a0053c0246
a0055c0205
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0062c0167
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0077c0182
a0078c0175
a0079c0183
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0195c0243
a0196c0207
a0203c0210
a0204c0053
a0205c0245
a0207c0206
a0211c0247
 158 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(155): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.4686A>G
c.4686A>G
 p.Pro1562Pro
p.Pro1562Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4823/18335 4686/17388 1562/5795 chr14 104950765
chr14:104950771 T
T
 C
C
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4680A>G
c.4680A>G
 p.Lys1560Lys
p.Lys1560Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4817/18335 4680/17388 1560/5795 chr14 104950771
chr14:104950777 G
G
 A
A
 2 a0064c0165
a0133c0097
a0064c0165
a0133c0097
 2 HG02630.hp2
HG03130.hp1
HG02630.hp2
HG03130.hp1
 synonymous_variant LOW c.4674C>T
c.4674C>T
 p.Asp1558Asp
p.Asp1558Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4811/18335 4674/17388 1558/5795 chr14 104950777
chr14:104950783 T
T
 C
C
 2 a0020c0018
a0086c0188
a0020c0018
a0086c0188
 4 HG02056.hp1
HG03942.hp1
NA18954.hp1
others(1): Show 
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4668A>G
c.4668A>G
 p.Gln1556Gln
p.Gln1556Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4805/18335 4668/17388 1556/5795 chr14 104950783
chr14:104950810 A
A
 G
G
 82 a0001c0001
a0001c0003
a0001c0045
others(79): Show 
a0001c0001
a0001c0003
a0001c0045
a0005c0025
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0011c0012
a0017c0015
a0019c0016
a0020c0018
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0027c0189
a0027c0190
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0052c0208
a0052c0209
a0053c0246
a0061c0166
a0062c0167
a0065c0203
a0066c0202
a0069c0184
a0070c0170
a0074c0179
a0075c0164
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0133c0097
a0204c0053
a0207c0206
a0211c0247
 125 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(122): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp2
HG01175.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp2
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp2
NA18522.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19074.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.4641T>C
c.4641T>C
 p.Ser1547Ser
p.Ser1547Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4778/18335 4641/17388 1547/5795 chr14 104950810
chr14:104950822 T
T
 A
A
 14 a0020c0018
a0049c0127
a0061c0166
others(11): Show 
a0020c0018
a0049c0127
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0097c0201
a0101c0063
a0114c0225
a0133c0097
 16 HG00639.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00639.hp1
HG01167.hp2
HG01884.hp1
HG02040.hp2
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG02735.hp1
HG03017.hp2
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4629A>T
c.4629A>T
 p.Ile1543Ile
p.Ile1543Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4766/18335 4629/17388 1543/5795 chr14 104950822
chr14:104950828 C
C
 G
G
 12 a0020c0018
a0061c0166
a0069c0184
others(9): Show 
a0020c0018
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
a0163c0098
 14 HG01167.hp2
HG01884.hp1
HG02056.hp1
others(11): Show 
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03453.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4623G>C
c.4623G>C
 p.Leu1541Leu
p.Leu1541Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4760/18335 4623/17388 1541/5795 chr14 104950828
chr14:104950843 G
G
 C
C
 1 a0083c0176
a0083c0176
 1 HG02055.hp2
HG02055.hp2
 synonymous_variant LOW c.4608C>G
c.4608C>G
 p.Leu1536Leu
p.Leu1536Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4745/18335 4608/17388 1536/5795 chr14 104950843
chr14:104950861 G
G
 A
A
 1 a0182c0128
a0182c0128
 1 HG01993.hp1
HG01993.hp1
 synonymous_variant LOW c.4590C>T
c.4590C>T
 p.Pro1530Pro
p.Pro1530Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4727/18335 4590/17388 1530/5795 chr14 104950861
chr14:104950867 G
G
 A
A
 4 a0020c0018
a0064c0165
a0076c0163
others(1): Show 
a0020c0018
a0064c0165
a0076c0163
a0086c0188
 6 HG01884.hp2
HG02056.hp1
HG03130.hp1
others(3): Show 
HG01884.hp2
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4584C>T
c.4584C>T
 p.Ser1528Ser
p.Ser1528Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4721/18335 4584/17388 1528/5795 chr14 104950867
chr14:104950885 C
C
 T
T
 8 a0020c0018
a0030c0223
a0064c0165
others(5): Show 
a0020c0018
a0030c0223
a0064c0165
a0066c0202
a0070c0170
a0086c0188
a0111c0232
a0204c0053
 10 HG00609.hp1
HG02056.hp1
HG02723.hp2
others(7): Show 
HG00609.hp1
HG02056.hp1
HG02723.hp2
HG03130.hp1
HG03209.hp1
HG03942.hp1
HG04228.hp2
NA18954.hp1
NA19012.hp2
NA20905.hp2
 synonymous_variant LOW c.4566G>A
c.4566G>A
 p.Lys1522Lys
p.Lys1522Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4703/18335 4566/17388 1522/5795 chr14 104950885
chr14:104950888 C
C
 G
G
 21 a0020c0018
a0026c0042
a0028c0019
others(18): Show 
a0020c0018
a0026c0042
a0028c0019
a0030c0223
a0061c0166
a0064c0165
a0066c0202
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0086c0188
a0089c0196
a0111c0232
a0204c0053
 25 HG00609.hp1
HG01099.hp2
HG01167.hp2
others(22): Show 
HG00609.hp1
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02056.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03942.hp1
HG04228.hp2
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 synonymous_variant LOW c.4563G>C
c.4563G>C
 p.Pro1521Pro
p.Pro1521Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4700/18335 4563/17388 1521/5795 chr14 104950888
chr14:104950891 C
C
 T
T
 21 a0020c0018
a0026c0042
a0028c0019
others(18): Show 
a0020c0018
a0026c0042
a0028c0019
a0030c0223
a0061c0166
a0064c0165
a0066c0202
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0086c0188
a0089c0196
a0144c0238
a0204c0053
 25 HG00609.hp1
HG01099.hp2
HG01167.hp2
others(22): Show 
HG00609.hp1
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02056.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03486.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
NA20905.hp2
 synonymous_variant LOW c.4560G>A
c.4560G>A
 p.Ala1520Ala
p.Ala1520Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4697/18335 4560/17388 1520/5795 chr14 104950891
chr14:104950894 A
A
 G
G
 2 a0044c0049
a0169c0237
a0044c0049
a0169c0237
 3 HG02896.hp2
HG02897.hp1
HG03225.hp2
HG02896.hp2
HG02897.hp1
HG03225.hp2
 synonymous_variant LOW c.4557T>C
c.4557T>C
 p.Ser1519Ser
p.Ser1519Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4694/18335 4557/17388 1519/5795 chr14 104950894
chr14:104950900 A
A
 G
G
 12 a0026c0042
a0061c0166
a0069c0184
others(9): Show 
a0026c0042
a0061c0166
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0089c0196
 13 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(10): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4551T>C
c.4551T>C
 p.Asp1517Asp
p.Asp1517Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4688/18335 4551/17388 1517/5795 chr14 104950900
chr14:104950906 T
T
 C
C
 11 a0003c0129
a0020c0018
a0064c0165
others(8): Show 
a0003c0129
a0020c0018
a0064c0165
a0066c0202
a0086c0188
a0101c0063
a0111c0232
a0114c0225
a0137c0094
a0138c0095
a0205c0245
 13 HG00609.hp1
HG00639.hp1
HG00733.hp1
others(10): Show 
HG00609.hp1
HG00639.hp1
HG00733.hp1
HG02056.hp1
HG02647.hp1
HG02809.hp1
HG03130.hp1
HG03688.hp1
HG03942.hp1
HG04228.hp2
NA18747.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4545A>G
c.4545A>G
 p.Ser1515Ser
p.Ser1515Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4682/18335 4545/17388 1515/5795 chr14 104950906
chr14:104950906 T
T
 G
G
 12 a0026c0042
a0061c0166
a0069c0184
others(9): Show 
a0026c0042
a0061c0166
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0089c0196
 13 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(10): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4545A>C
c.4545A>C
 p.Ser1515Ser
p.Ser1515Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4682/18335 4545/17388 1515/5795 chr14 104950906
chr14:104950915 G
G
 A
A
 12 a0026c0042
a0061c0166
a0069c0184
others(9): Show 
a0026c0042
a0061c0166
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0085c0172
a0089c0196
 13 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(10): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02717.hp2
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4536C>T
c.4536C>T
 p.Ile1512Ile
p.Ile1512Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4673/18335 4536/17388 1512/5795 chr14 104950915
chr14:104950924 G
G
 C
C
 1 a0124c0071
a0124c0071
 1 NA19043.hp1
NA19043.hp1
 synonymous_variant LOW c.4527C>G
c.4527C>G
 p.Gly1509Gly
p.Gly1509Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4664/18335 4527/17388 1509/5795 chr14 104950924
chr14:104950927 T
T
 A
A
 2 a0133c0097
a0197c0057
a0133c0097
a0197c0057
 2 HG02630.hp2
HG02922.hp2
HG02630.hp2
HG02922.hp2
 synonymous_variant LOW c.4524A>T
c.4524A>T
 p.Pro1508Pro
p.Pro1508Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4661/18335 4524/17388 1508/5795 chr14 104950927
chr14:104950933 A
A
 C
C
 13 a0026c0042
a0036c0030
a0061c0166
others(10): Show 
a0026c0042
a0036c0030
a0061c0166
a0064c0165
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0080c0180
a0081c0173
a0085c0172
a0089c0196
a0204c0053
 15 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(12): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG02723.hp2
HG02922.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp2
NA20129.hp1
 synonymous_variant LOW c.4518T>G
c.4518T>G
 p.Ser1506Ser
p.Ser1506Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4655/18335 4518/17388 1506/5795 chr14 104950933
chr14:104950933 A
A
 T
T
 3 a0020c0018
a0066c0202
a0086c0188
a0020c0018
a0066c0202
a0086c0188
 5 HG00609.hp1
HG02056.hp1
HG03942.hp1
others(2): Show 
HG00609.hp1
HG02056.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4518T>A
c.4518T>A
 p.Ser1506Ser
p.Ser1506Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4655/18335 4518/17388 1506/5795 chr14 104950933
chr14:104950936 C
C
 A
A
 10 a0026c0042
a0061c0166
a0069c0184
others(7): Show 
a0026c0042
a0061c0166
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0080c0180
a0081c0173
a0085c0172
a0089c0196
 11 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(8): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02257.hp1
HG02258.hp1
HG02717.hp1
HG03017.hp2
HG03041.hp2
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.4515G>T
c.4515G>T
 p.Val1505Val
p.Val1505Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4652/18335 4515/17388 1505/5795 chr14 104950936
chr14:104950942 G
G
 A
A
 13 a0026c0042
a0061c0166
a0064c0165
others(10): Show 
a0026c0042
a0061c0166
a0064c0165
a0069c0184
a0071c0177
a0072c0178
a0073c0171
a0080c0180
a0081c0173
a0085c0172
a0089c0196
a0133c0097
a0183c0130
 14 HG01099.hp2
HG01167.hp2
HG01255.hp2
others(11): Show 
HG01099.hp2
HG01167.hp2
HG01255.hp2
HG01884.hp1
HG02004.hp1
HG02257.hp1
HG02258.hp1
HG02630.hp2
HG02717.hp1
HG03017.hp2
HG03041.hp2
HG03130.hp1
HG03195.hp2
NA20129.hp1
 synonymous_variant LOW c.4509C>T
c.4509C>T
 p.Phe1503Phe
p.Phe1503Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4646/18335 4509/17388 1503/5795 chr14 104950942
chr14:104950945 C
C
 T
T
 5 a0016c0160
a0064c0165
a0068c0169
others(2): Show 
a0016c0160
a0064c0165
a0068c0169
a0114c0225
a0128c0239
 5 HG01099.hp1
HG02630.hp1
HG03130.hp1
others(2): Show 
HG01099.hp1
HG02630.hp1
HG03130.hp1
HG03688.hp1
NA18522.hp1
 synonymous_variant LOW c.4506G>A
c.4506G>A
 p.Ser1502Ser
p.Ser1502Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4643/18335 4506/17388 1502/5795 chr14 104950945
chr14:104950948 C
C
 T
T
 4 a0020c0018
a0064c0165
a0066c0202
others(1): Show 
a0020c0018
a0064c0165
a0066c0202
a0086c0188
 6 HG00609.hp1
HG02056.hp1
HG03130.hp1
others(3): Show 
HG00609.hp1
HG02056.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4503G>A
c.4503G>A
 p.Pro1501Pro
p.Pro1501Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4640/18335 4503/17388 1501/5795 chr14 104950948
chr14:104950996 G
G
 A
A
 5 a0020c0018
a0064c0165
a0066c0202
others(2): Show 
a0020c0018
a0064c0165
a0066c0202
a0068c0169
a0086c0188
 7 HG00609.hp1
HG02056.hp1
HG02630.hp1
others(4): Show 
HG00609.hp1
HG02056.hp1
HG02630.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4455C>T
c.4455C>T
 p.Asp1485Asp
p.Asp1485Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4592/18335 4455/17388 1485/5795 chr14 104950996
chr14:104951005 G
G
 A
A
 2 a0074c0179
a0075c0164
a0074c0179
a0075c0164
 2 HG02717.hp2
NA20129.hp2
HG02717.hp2
NA20129.hp2
 synonymous_variant LOW c.4446C>T
c.4446C>T
 p.Ala1482Ala
p.Ala1482Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4583/18335 4446/17388 1482/5795 chr14 104951005
chr14:104951029 C
C
 T
T
 2 a0077c0182
a0079c0183
a0077c0182
a0079c0183
 2 HG03098.hp1
HG03471.hp1
HG03098.hp1
HG03471.hp1
 synonymous_variant LOW c.4422G>A
c.4422G>A
 p.Arg1474Arg
p.Arg1474Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4559/18335 4422/17388 1474/5795 chr14 104951029
chr14:104951032 T
T
 C
C
 10 a0020c0018
a0060c0162
a0064c0165
others(7): Show 
a0020c0018
a0060c0162
a0064c0165
a0066c0202
a0067c0058
a0068c0169
a0086c0188
a0114c0225
a0133c0097
a0170c0105
 12 HG00609.hp1
HG02056.hp1
HG02273.hp2
others(9): Show 
HG00609.hp1
HG02056.hp1
HG02273.hp2
HG02630.hp1
HG02630.hp2
HG03130.hp1
HG03688.hp1
HG03942.hp1
HG04228.hp1
NA18954.hp1
NA19012.hp2
NA19030.hp1
 synonymous_variant LOW c.4419A>G
c.4419A>G
 p.Gly1473Gly
p.Gly1473Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4556/18335 4419/17388 1473/5795 chr14 104951032
chr14:104951035 A
A
 G
G
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4416T>C
c.4416T>C
 p.Gly1472Gly
p.Gly1472Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4553/18335 4416/17388 1472/5795 chr14 104951035
chr14:104951038 A
A
 G
G
 6 a0020c0018
a0060c0162
a0064c0165
others(3): Show 
a0020c0018
a0060c0162
a0064c0165
a0066c0202
a0068c0169
a0086c0188
 8 HG00609.hp1
HG02056.hp1
HG02630.hp1
others(5): Show 
HG00609.hp1
HG02056.hp1
HG02630.hp1
HG03130.hp1
HG03942.hp1
HG04228.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4413T>C
c.4413T>C
 p.Asp1471Asp
p.Asp1471Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4550/18335 4413/17388 1471/5795 chr14 104951038
chr14:104951043 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4408C>T
c.4408C>T
 p.Leu1470Leu
p.Leu1470Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4545/18335 4408/17388 1470/5795 chr14 104951043
chr14:104951053 T
T
 C
C
 12 a0020c0018
a0061c0166
a0064c0165
others(9): Show 
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 14 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(11): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4398A>G
c.4398A>G
 p.Pro1466Pro
p.Pro1466Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4535/18335 4398/17388 1466/5795 chr14 104951053
chr14:104951065 A
A
 G
G
 14 a0020c0018
a0061c0166
a0064c0165
others(11): Show 
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
 16 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4386T>C
c.4386T>C
 p.Asp1462Asp
p.Asp1462Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4523/18335 4386/17388 1462/5795 chr14 104951065
chr14:104951077 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4374C>T
c.4374C>T
 p.Ser1458Ser
p.Ser1458Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4511/18335 4374/17388 1458/5795 chr14 104951077
chr14:104951089 A
A
 C
C
 14 a0020c0018
a0061c0166
a0064c0165
others(11): Show 
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
a0133c0097
 16 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(13): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4362T>G
c.4362T>G
 p.Val1454Val
p.Val1454Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4499/18335 4362/17388 1454/5795 chr14 104951089
chr14:104951101 A
A
 G
G
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4350T>C
c.4350T>C
 p.Pro1450Pro
p.Pro1450Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4487/18335 4350/17388 1450/5795 chr14 104951101
chr14:104951107 T
T
 C
C
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4344A>G
c.4344A>G
 p.Thr1448Thr
p.Thr1448Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4481/18335 4344/17388 1448/5795 chr14 104951107
chr14:104951110 C
C
 G
G
 5 a0020c0018
a0064c0165
a0066c0202
others(2): Show 
a0020c0018
a0064c0165
a0066c0202
a0068c0169
a0086c0188
 7 HG00609.hp1
HG02056.hp1
HG02630.hp1
others(4): Show 
HG00609.hp1
HG02056.hp1
HG02630.hp1
HG03130.hp1
HG03942.hp1
NA18954.hp1
NA19012.hp2
 synonymous_variant LOW c.4341G>C
c.4341G>C
 p.Val1447Val
p.Val1447Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4478/18335 4341/17388 1447/5795 chr14 104951110
chr14:104951113 T
T
 C
C
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4338A>G
c.4338A>G
 p.Glu1446Glu
p.Glu1446Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4475/18335 4338/17388 1446/5795 chr14 104951113
chr14:104951116 C
C
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4335G>A
c.4335G>A
 p.Val1445Val
p.Val1445Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4472/18335 4335/17388 1445/5795 chr14 104951116
chr14:104951122 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4329C>T
c.4329C>T
 p.Pro1443Pro
p.Pro1443Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4466/18335 4329/17388 1443/5795 chr14 104951122
chr14:104951125 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4326C>T
c.4326C>T
 p.Asp1442Asp
p.Asp1442Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4463/18335 4326/17388 1442/5795 chr14 104951125
chr14:104951131 T
T
 C
C
 8 a0061c0166
a0068c0169
a0069c0184
others(5): Show 
a0061c0166
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 8 HG01167.hp2
HG01884.hp1
HG02630.hp1
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4320A>G
c.4320A>G
 p.Leu1440Leu
p.Leu1440Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4457/18335 4320/17388 1440/5795 chr14 104951131
chr14:104951161 T
T
 C
C
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4290A>G
c.4290A>G
 p.Glu1430Glu
p.Glu1430Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4427/18335 4290/17388 1430/5795 chr14 104951161
chr14:104951164 A
A
 G
G
 9 a0061c0166
a0069c0184
a0074c0179
others(6): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
a0133c0097
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4287T>C
c.4287T>C
 p.Pro1429Pro
p.Pro1429Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4424/18335 4287/17388 1429/5795 chr14 104951164
chr14:104951200 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4251C>T
c.4251C>T
 p.Pro1417Pro
p.Pro1417Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4388/18335 4251/17388 1417/5795 chr14 104951200
chr14:104951245 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4206C>T
c.4206C>T
 p.Pro1402Pro
p.Pro1402Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4343/18335 4206/17388 1402/5795 chr14 104951245
chr14:104951251 G
G
 A
A
 2 a0114c0225
a0133c0097
a0114c0225
a0133c0097
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 synonymous_variant LOW c.4200C>T
c.4200C>T
 p.Pro1400Pro
p.Pro1400Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4337/18335 4200/17388 1400/5795 chr14 104951251
chr14:104951260 T
T
 C
C
 9 a0061c0166
a0069c0184
a0074c0179
others(6): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
a0133c0097
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4191A>G
c.4191A>G
 p.Pro1397Pro
p.Pro1397Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4328/18335 4191/17388 1397/5795 chr14 104951260
chr14:104951266 T
T
 C
C
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4185A>G
c.4185A>G
 p.Lys1395Lys
p.Lys1395Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4322/18335 4185/17388 1395/5795 chr14 104951266
chr14:104951278 T
T
 C
C
 9 a0061c0166
a0069c0184
a0074c0179
others(6): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
a0133c0097
 9 HG01167.hp2
HG01884.hp1
HG02630.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02630.hp2
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4173A>G
c.4173A>G
 p.Gln1391Gln
p.Gln1391Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4310/18335 4173/17388 1391/5795 chr14 104951278
chr14:104951302 A
A
 G
G
 2 a0114c0225
a0133c0097
a0114c0225
a0133c0097
 2 HG02630.hp2
HG03688.hp1
HG02630.hp2
HG03688.hp1
 synonymous_variant LOW c.4149T>C
c.4149T>C
 p.Thr1383Thr
p.Thr1383Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4286/18335 4149/17388 1383/5795 chr14 104951302
chr14:104951338 G
G
 C
C
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.4113C>G
c.4113C>G
 p.Leu1371Leu
p.Leu1371Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4250/18335 4113/17388 1371/5795 chr14 104951338
chr14:104951362 G
G
 A
A
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4089C>T
c.4089C>T
 p.Ser1363Ser
p.Ser1363Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4226/18335 4089/17388 1363/5795 chr14 104951362
chr14:104951380 C
C
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4071G>A
c.4071G>A
 p.Lys1357Lys
p.Lys1357Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4208/18335 4071/17388 1357/5795 chr14 104951380
chr14:104951395 G
G
 A
A
 9 a0061c0166
a0063c0168
a0069c0184
others(6): Show 
a0061c0166
a0063c0168
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 9 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
HG06807.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4056C>T
c.4056C>T
 p.Asp1352Asp
p.Asp1352Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4193/18335 4056/17388 1352/5795 chr14 104951395
chr14:104951401 G
G
 A
A
 1 a0041c0099
a0041c0099
 1 HG01993.hp2
HG01993.hp2
 synonymous_variant LOW c.4050C>T
c.4050C>T
 p.Ser1350Ser
p.Ser1350Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4187/18335 4050/17388 1350/5795 chr14 104951401
chr14:104951401 G
G
 C
C
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4050C>G
c.4050C>G
 p.Ser1350Ser
p.Ser1350Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4187/18335 4050/17388 1350/5795 chr14 104951401
chr14:104951410 A
A
 G
G
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4041T>C
c.4041T>C
 p.Ile1347Ile
p.Ile1347Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4178/18335 4041/17388 1347/5795 chr14 104951410
chr14:104951428 A
A
 C
C
 67 a0004c0005
a0004c0157
a0004c0158
others(64): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0032c0050
a0034c0048
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0062c0167
a0063c0168
a0067c0058
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0077c0182
a0078c0175
a0079c0183
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0195c0243
a0196c0207
a0203c0210
a0204c0053
a0207c0206
a0211c0247
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20300.hp2
 synonymous_variant LOW c.4023T>G
c.4023T>G
 p.Ser1341Ser
p.Ser1341Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4160/18335 4023/17388 1341/5795 chr14 104951428
chr14:104951428 A
A
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.4023T>A
c.4023T>A
 p.Ser1341Ser
p.Ser1341Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4160/18335 4023/17388 1341/5795 chr14 104951428
chr14:104951431 C
C
 A
A
 67 a0004c0005
a0004c0157
a0004c0158
others(64): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0032c0050
a0034c0048
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0062c0167
a0063c0168
a0067c0058
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0077c0182
a0078c0175
a0079c0183
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0195c0243
a0196c0207
a0203c0210
a0204c0053
a0207c0206
a0211c0247
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20300.hp2
 synonymous_variant LOW c.4020G>T
c.4020G>T
 p.Val1340Val
p.Val1340Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4157/18335 4020/17388 1340/5795 chr14 104951431
chr14:104951437 G
G
 A
A
 67 a0004c0005
a0004c0157
a0004c0158
others(64): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0032c0050
a0034c0048
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0062c0167
a0063c0168
a0067c0058
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0077c0182
a0078c0175
a0079c0183
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0102c0064
a0103c0065
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0195c0243
a0196c0207
a0203c0210
a0204c0053
a0207c0206
a0211c0247
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20300.hp2
 synonymous_variant LOW c.4014C>T
c.4014C>T
 p.Phe1338Phe
p.Phe1338Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4151/18335 4014/17388 1338/5795 chr14 104951437
chr14:104951440 C
C
 T
T
 15 a0032c0050
a0034c0048
a0102c0064
others(12): Show 
a0032c0050
a0034c0048
a0102c0064
a0103c0065
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0130c0075
a0131c0235
a0132c0236
a0195c0243
a0196c0207
a0203c0210
a0204c0053
 17 HG02258.hp2
HG02451.hp2
HG02486.hp2
others(14): Show 
HG02258.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG02723.hp1
HG02723.hp2
HG02976.hp1
HG02976.hp2
HG03098.hp2
HG03225.hp1
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA20300.hp2
 synonymous_variant LOW c.4011G>A
c.4011G>A
 p.Ser1337Ser
p.Ser1337Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4148/18335 4011/17388 1337/5795 chr14 104951440
chr14:104951443 C
C
 T
T
 6 a0061c0166
a0069c0184
a0075c0164
others(3): Show 
a0061c0166
a0069c0184
a0075c0164
a0081c0173
a0089c0196
a0206c0066
 6 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(3): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03704.hp2
NA20129.hp1
 synonymous_variant LOW c.4008G>A
c.4008G>A
 p.Pro1336Pro
p.Pro1336Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4145/18335 4008/17388 1336/5795 chr14 104951443
chr14:104951491 G
G
 A
A
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3960C>T
c.3960C>T
 p.Asp1320Asp
p.Asp1320Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4097/18335 3960/17388 1320/5795 chr14 104951491
chr14:104951500 A
A
 G
G
 60 a0004c0005
a0004c0157
a0004c0158
others(57): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0019c0016
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0063c0168
a0067c0058
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0114c0225
a0207c0206
a0211c0247
 83 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(80): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18951.hp1
NA18952.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3951T>C
c.3951T>C
 p.Ala1317Ala
p.Ala1317Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4088/18335 3951/17388 1317/5795 chr14 104951500
chr14:104951515 C
C
 A
A
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3936G>T
c.3936G>T
 p.Gly1312Gly
p.Gly1312Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4073/18335 3936/17388 1312/5795 chr14 104951515
chr14:104951527 T
T
 C
C
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3924A>G
c.3924A>G
 p.Ala1308Ala
p.Ala1308Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4061/18335 3924/17388 1308/5795 chr14 104951527
chr14:104951530 G
G
 A
A
 10 a0028c0019
a0061c0166
a0067c0058
others(7): Show 
a0028c0019
a0061c0166
a0067c0058
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 11 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(8): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA19030.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3921C>T
c.3921C>T
 p.Gly1307Gly
p.Gly1307Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4058/18335 3921/17388 1307/5795 chr14 104951530
chr14:104951533 A
A
 G
G
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3918T>C
c.3918T>C
 p.Asp1306Asp
p.Asp1306Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4055/18335 3918/17388 1306/5795 chr14 104951533
chr14:104951538 A
A
 G
G
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3913T>C
c.3913T>C
 p.Leu1305Leu
p.Leu1305Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4050/18335 3913/17388 1305/5795 chr14 104951538
chr14:104951548 C
C
 T
T
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3903G>A
c.3903G>A
 p.Pro1301Pro
p.Pro1301Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4040/18335 3903/17388 1301/5795 chr14 104951548
chr14:104951551 G
G
 A
A
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3900C>T
c.3900C>T
 p.Ala1300Ala
p.Ala1300Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4037/18335 3900/17388 1300/5795 chr14 104951551
chr14:104951572 A
A
 G
G
 9 a0061c0166
a0069c0184
a0074c0179
others(6): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
a0197c0057
 9 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(6): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG02922.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3879T>C
c.3879T>C
 p.Ser1293Ser
p.Ser1293Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4016/18335 3879/17388 1293/5795 chr14 104951572
chr14:104951587 A
A
 C
C
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3864T>G
c.3864T>G
 p.Ala1288Ala
p.Ala1288Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 4001/18335 3864/17388 1288/5795 chr14 104951587
chr14:104951596 G
G
 A
A
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3855C>T
c.3855C>T
 p.His1285His
p.His1285His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3992/18335 3855/17388 1285/5795 chr14 104951596
chr14:104951602 C
C
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3849G>A
c.3849G>A
 p.Thr1283Thr
p.Thr1283Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3986/18335 3849/17388 1283/5795 chr14 104951602
chr14:104951605 C
C
 G
G
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3846G>C
c.3846G>C
 p.Val1282Val
p.Val1282Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3983/18335 3846/17388 1282/5795 chr14 104951605
chr14:104951608 C
C
 T
T
 7 a0061c0166
a0069c0184
a0074c0179
others(4): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
 7 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(4): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3843G>A
c.3843G>A
 p.Glu1281Glu
p.Glu1281Glu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3980/18335 3843/17388 1281/5795 chr14 104951608
chr14:104951611 T
T
 C
C
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3840A>G
c.3840A>G
 p.Ala1280Ala
p.Ala1280Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3977/18335 3840/17388 1280/5795 chr14 104951611
chr14:104951617 A
A
 G
G
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3834T>C
c.3834T>C
 p.His1278His
p.His1278His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3971/18335 3834/17388 1278/5795 chr14 104951617
chr14:104951620 A
A
 G
G
 8 a0061c0166
a0069c0184
a0074c0179
others(5): Show 
a0061c0166
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0089c0196
a0114c0225
 8 HG01167.hp2
HG01884.hp1
HG02717.hp2
others(5): Show 
HG01167.hp2
HG01884.hp1
HG02717.hp2
HG03017.hp2
HG03195.hp2
HG03688.hp1
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3831T>C
c.3831T>C
 p.Gly1277Gly
p.Gly1277Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3968/18335 3831/17388 1277/5795 chr14 104951620
chr14:104951695 A
A
 G
G
 14 a0018c0017
a0020c0018
a0061c0166
others(11): Show 
a0018c0017
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
 18 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3756T>C
c.3756T>C
 p.Pro1252Pro
p.Pro1252Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3893/18335 3756/17388 1252/5795 chr14 104951695
chr14:104951713 C
C
 G
G
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3738G>C
c.3738G>C
 p.Leu1246Leu
p.Leu1246Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3875/18335 3738/17388 1246/5795 chr14 104951713
chr14:104951740 A
A
 G
G
 14 a0018c0017
a0020c0018
a0061c0166
others(11): Show 
a0018c0017
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
 18 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3711T>C
c.3711T>C
 p.Pro1237Pro
p.Pro1237Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3848/18335 3711/17388 1237/5795 chr14 104951740
chr14:104951743 C
C
 A
A
 13 a0018c0017
a0020c0018
a0061c0166
others(10): Show 
a0018c0017
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 17 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(14): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3708G>T
c.3708G>T
 p.Val1236Val
p.Val1236Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3845/18335 3708/17388 1236/5795 chr14 104951743
chr14:104951746 G
G
 A
A
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3705C>T
c.3705C>T
 p.His1235His
p.His1235His
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3842/18335 3705/17388 1235/5795 chr14 104951746
chr14:104951761 C
C
 T
T
 14 a0018c0017
a0020c0018
a0061c0166
others(11): Show 
a0018c0017
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0114c0225
 18 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(15): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03688.hp1
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3690G>A
c.3690G>A
 p.Lys1230Lys
p.Lys1230Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3827/18335 3690/17388 1230/5795 chr14 104951761
chr14:104951773 C
C
 T
T
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3678G>A
c.3678G>A
 p.Gln1226Gln
p.Gln1226Gln
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3815/18335 3678/17388 1226/5795 chr14 104951773
chr14:104951797 A
A
 G
G
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3654T>C
c.3654T>C
 p.Ala1218Ala
p.Ala1218Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3791/18335 3654/17388 1218/5795 chr14 104951797
chr14:104951812 A
A
 T
T
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3639T>A
c.3639T>A
 p.Ile1213Ile
p.Ile1213Ile
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3776/18335 3639/17388 1213/5795 chr14 104951812
chr14:104951818 G
G
 C
C
 1 a0114c0225
a0114c0225
 1 HG03688.hp1
HG03688.hp1
 synonymous_variant LOW c.3633C>G
c.3633C>G
 p.Leu1211Leu
p.Leu1211Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3770/18335 3633/17388 1211/5795 chr14 104951818
chr14:104951833 G
G
 C
C
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3618C>G
c.3618C>G
 p.Leu1206Leu
p.Leu1206Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3755/18335 3618/17388 1206/5795 chr14 104951833
chr14:104951857 A
A
 G
G
 5 a0062c0167
a0063c0168
a0098c0204
others(2): Show 
a0062c0167
a0063c0168
a0098c0204
a0114c0225
a0194c0136
 5 HG02809.hp2
HG03453.hp1
HG03688.hp1
others(2): Show 
HG02809.hp2
HG03453.hp1
HG03688.hp1
HG03927.hp1
HG06807.hp1
 synonymous_variant LOW c.3594T>C
c.3594T>C
 p.Ser1198Ser
p.Ser1198Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3731/18335 3594/17388 1198/5795 chr14 104951857
chr14:104951875 T
T
 C
C
 1 a0097c0201
a0097c0201
 1 HG02040.hp2
HG02040.hp2
 synonymous_variant LOW c.3576A>G
c.3576A>G
 p.Lys1192Lys
p.Lys1192Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3713/18335 3576/17388 1192/5795 chr14 104951875
chr14:104951878 G
G
 C
C
 1 a0097c0201
a0097c0201
 1 HG02040.hp2
HG02040.hp2
 synonymous_variant LOW c.3573C>G
c.3573C>G
 p.Pro1191Pro
p.Pro1191Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3710/18335 3573/17388 1191/5795 chr14 104951878
chr14:104951881 T
T
 C
C
 1 a0097c0201
a0097c0201
 1 HG02040.hp2
HG02040.hp2
 synonymous_variant LOW c.3570A>G
c.3570A>G
 p.Ala1190Ala
p.Ala1190Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3707/18335 3570/17388 1190/5795 chr14 104951881
chr14:104951923 T
T
 A
A
 47 a0001c0001
a0001c0003
a0001c0045
others(44): Show 
a0001c0001
a0001c0003
a0001c0045
a0003c0134
a0018c0017
a0020c0018
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0028c0019
a0030c0226
a0031c0046
a0052c0208
a0052c0209
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0096c0199
a0105c0211
a0108c0218
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0176c0135
a0190c0151
a0192c0137
a0193c0138
a0194c0136
a0198c0152
 73 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(70): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00609.hp1
HG00642.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp1
HG02056.hp1
HG02165.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp1
HG02572.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03491.hp1
HG03492.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03927.hp1
HG03942.hp1
HG04115.hp1
HG04184.hp1
NA18948.hp2
NA18954.hp1
NA18954.hp2
NA18977.hp2
NA19012.hp2
NA19043.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.3528A>T
c.3528A>T
 p.Ser1176Ser
p.Ser1176Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3665/18335 3528/17388 1176/5795 chr14 104951923
chr14:104951923 T
T
 C
C
 4 a0021c0219
a0021c0220
a0021c0244
others(1): Show 
a0021c0219
a0021c0220
a0021c0244
a0067c0058
 4 HG02129.hp1
HG02165.hp2
NA18940.hp2
others(1): Show 
HG02129.hp1
HG02165.hp2
NA18940.hp2
NA19030.hp1
 synonymous_variant LOW c.3528A>G
c.3528A>G
 p.Ser1176Ser
p.Ser1176Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3665/18335 3528/17388 1176/5795 chr14 104951923
chr14:104951926 C
C
 T
T
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.3525G>A
c.3525G>A
 p.Ala1175Ala
p.Ala1175Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3662/18335 3525/17388 1175/5795 chr14 104951926
chr14:104951932 G
G
 A
A
 15 a0018c0017
a0020c0018
a0061c0166
others(12): Show 
a0018c0017
a0020c0018
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0077c0182
a0079c0183
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03471.hp1
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3519C>T
c.3519C>T
 p.Phe1173Phe
p.Phe1173Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3656/18335 3519/17388 1173/5795 chr14 104951932
chr14:104951935 C
C
 G
G
 3 a0021c0219
a0021c0220
a0021c0244
a0021c0219
a0021c0220
a0021c0244
 3 HG02129.hp1
HG02165.hp2
NA18940.hp2
HG02129.hp1
HG02165.hp2
NA18940.hp2
 synonymous_variant LOW c.3516G>C
c.3516G>C
 p.Ser1172Ser
p.Ser1172Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3653/18335 3516/17388 1172/5795 chr14 104951935
chr14:104951938 T
T
 C
C
 74 a0001c0003
a0001c0045
a0003c0149
others(71): Show 
a0001c0003
a0001c0045
a0003c0149
a0006c0200
a0012c0036
a0012c0039
a0013c0010
a0014c0009
a0018c0017
a0020c0018
a0022c0044
a0025c0248
a0028c0019
a0030c0226
a0031c0046
a0034c0048
a0038c0037
a0040c0038
a0043c0040
a0044c0049
a0052c0208
a0052c0209
a0061c0166
a0062c0167
a0063c0168
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0071c0177
a0072c0178
a0074c0179
a0075c0164
a0077c0182
a0079c0183
a0080c0180
a0081c0173
a0084c0181
a0086c0188
a0089c0196
a0097c0201
a0102c0064
a0103c0065
a0105c0211
a0109c0222
a0110c0221
a0112c0227
a0114c0225
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0121c0231
a0123c0233
a0132c0236
a0136c0140
a0139c0142
a0144c0238
a0151c0145
a0152c0146
a0153c0147
a0154c0148
a0156c0144
a0158c0143
a0159c0141
a0164c0139
a0169c0237
a0190c0151
a0191c0150
a0195c0243
a0196c0207
a0199c0069
a0204c0053
a0206c0066
 102 HG00099.hp1
HG00323.hp1
HG00438.hp1
others(99): Show 
HG00099.hp1
HG00323.hp1
HG00438.hp1
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00642.hp1
HG00673.hp2
HG00741.hp2
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01175.hp2
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp2
HG01884.hp1
HG01981.hp1
HG02040.hp2
HG02056.hp1
HG02129.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02280.hp1
HG02293.hp2
HG02300.hp2
HG02486.hp2
HG02602.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03130.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp2
HG03942.hp1
HG04115.hp1
HG04184.hp2
HG06807.hp1
NA18906.hp2
NA18943.hp2
NA18945.hp1
NA18948.hp2
NA18950.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18961.hp1
NA18963.hp1
NA18967.hp2
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18998.hp1
NA18999.hp1
NA19000.hp2
NA19012.hp2
NA19055.hp1
NA19070.hp1
NA19076.hp2
NA19077.hp1
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA19091.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20905.hp1
 synonymous_variant LOW c.3513A>G
c.3513A>G
 p.Pro1171Pro
p.Pro1171Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3650/18335 3513/17388 1171/5795 chr14 104951938
chr14:104951938 T
T
 G
G
 3 a0021c0219
a0021c0220
a0021c0244
a0021c0219
a0021c0220
a0021c0244
 3 HG02129.hp1
HG02165.hp2
NA18940.hp2
HG02129.hp1
HG02165.hp2
NA18940.hp2
 synonymous_variant LOW c.3513A>C
c.3513A>C
 p.Pro1171Pro
p.Pro1171Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3650/18335 3513/17388 1171/5795 chr14 104951938
chr14:104951986 A
A
 G
G
 1 a0200c0153
a0200c0153
 1 HG01978.hp1
HG01978.hp1
 synonymous_variant LOW c.3465T>C
c.3465T>C
 p.Asp1155Asp
p.Asp1155Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3602/18335 3465/17388 1155/5795 chr14 104951986
chr14:104952000 G
G
 A
A
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3451C>T
c.3451C>T
 p.Leu1151Leu
p.Leu1151Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3588/18335 3451/17388 1151/5795 chr14 104952000
chr14:104952018 G
G
 A
A
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3433C>T
c.3433C>T
 p.Leu1145Leu
p.Leu1145Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3570/18335 3433/17388 1145/5795 chr14 104952018
chr14:104952022 C
C
 T
T
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3429G>A
c.3429G>A
 p.Ala1143Ala
p.Ala1143Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3566/18335 3429/17388 1143/5795 chr14 104952022
chr14:104952028 G
G
 A
A
 17 a0011c0012
a0018c0017
a0020c0018
others(14): Show 
a0011c0012
a0018c0017
a0020c0018
a0028c0019
a0029c0047
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
a0107c0234
 26 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(23): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18953.hp1
NA18954.hp1
NA18977.hp2
NA19002.hp1
NA19004.hp2
NA19012.hp2
NA19055.hp2
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3423C>T
c.3423C>T
 p.Asp1141Asp
p.Asp1141Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3560/18335 3423/17388 1141/5795 chr14 104952028
chr14:104952046 G
G
 A
A
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3405C>T
c.3405C>T
 p.Ala1135Ala
p.Ala1135Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3542/18335 3405/17388 1135/5795 chr14 104952046
chr14:104952064 C
C
 G
G
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3387G>C
c.3387G>C
 p.Val1129Val
p.Val1129Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3524/18335 3387/17388 1129/5795 chr14 104952064
chr14:104952079 C
C
 A
A
 1 a0052c0209
a0052c0209
 1 HG01081.hp1
HG01081.hp1
 synonymous_variant LOW c.3372G>T
c.3372G>T
 p.Val1124Val
p.Val1124Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3509/18335 3372/17388 1124/5795 chr14 104952079
chr14:104952085 C
C
 G
G
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3366G>C
c.3366G>C
 p.Val1122Val
p.Val1122Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3503/18335 3366/17388 1122/5795 chr14 104952085
chr14:104952091 A
A
 G
G
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3360T>C
c.3360T>C
 p.Pro1120Pro
p.Pro1120Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3497/18335 3360/17388 1120/5795 chr14 104952091
chr14:104952100 G
G
 C
C
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3351C>G
c.3351C>G
 p.Val1117Val
p.Val1117Val
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3488/18335 3351/17388 1117/5795 chr14 104952100
chr14:104952118 T
T
 C
C
 1 a0196c0207
a0196c0207
 1 HG02486.hp2
HG02486.hp2
 synonymous_variant LOW c.3333A>G
c.3333A>G
 p.Lys1111Lys
p.Lys1111Lys
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3470/18335 3333/17388 1111/5795 chr14 104952118
chr14:104952121 C
C
 T
T
 14 a0018c0017
a0020c0018
a0028c0019
others(11): Show 
a0018c0017
a0020c0018
a0028c0019
a0061c0166
a0064c0165
a0066c0202
a0068c0169
a0069c0184
a0074c0179
a0075c0164
a0080c0180
a0081c0173
a0086c0188
a0089c0196
 19 HG00609.hp1
HG01167.hp2
HG01884.hp1
others(16): Show 
HG00609.hp1
HG01167.hp2
HG01884.hp1
HG02056.hp1
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03130.hp1
HG03195.hp2
HG03942.hp1
NA18948.hp2
NA18954.hp1
NA18977.hp2
NA19012.hp2
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3330G>A
c.3330G>A
 p.Leu1110Leu
p.Leu1110Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3467/18335 3330/17388 1110/5795 chr14 104952121
chr14:104952235 G
G
 A
A
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.3216C>T
c.3216C>T
 p.Pro1072Pro
p.Pro1072Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3353/18335 3216/17388 1072/5795 chr14 104952235
chr14:104952301 A
A
 G
G
 65 a0004c0005
a0004c0157
a0004c0158
others(62): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0063c0168
a0064c0165
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0098c0204
a0100c0062
a0101c0063
a0207c0206
a0211c0247
 92 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(89): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.3150T>C
c.3150T>C
 p.Pro1050Pro
p.Pro1050Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3287/18335 3150/17388 1050/5795 chr14 104952301
chr14:104952319 A
A
 G
G
 1 a0197c0057
a0197c0057
 1 HG02922.hp2
HG02922.hp2
 synonymous_variant LOW c.3132T>C
c.3132T>C
 p.Thr1044Thr
p.Thr1044Thr
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3269/18335 3132/17388 1044/5795 chr14 104952319
chr14:104952487 G
G
 A
A
 2 a0063c0168
a0098c0204
a0063c0168
a0098c0204
 2 HG02809.hp2
HG06807.hp1
HG02809.hp2
HG06807.hp1
 synonymous_variant LOW c.2964C>T
c.2964C>T
 p.Asp988Asp
p.Asp988Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 3101/18335 2964/17388 988/5795 chr14 104952487
chr14:104952652 G
G
 C
C
 1 a0197c0057
a0197c0057
 1 HG02922.hp2
HG02922.hp2
 synonymous_variant LOW c.2799C>G
c.2799C>G
 p.Gly933Gly
p.Gly933Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2936/18335 2799/17388 933/5795 chr14 104952652
chr14:104952766 G
G
 A
A
 2 a0196c0207
a0204c0053
a0196c0207
a0204c0053
 2 HG02486.hp2
HG02723.hp2
HG02486.hp2
HG02723.hp2
 synonymous_variant LOW c.2685C>T
c.2685C>T
 p.Gly895Gly
p.Gly895Gly
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2822/18335 2685/17388 895/5795 chr14 104952766
chr14:104953023 G
G
 A
A
 2 a0028c0019
a0067c0058
a0028c0019
a0067c0058
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 synonymous_variant LOW c.2428C>T
c.2428C>T
 p.Leu810Leu
p.Leu810Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2565/18335 2428/17388 810/5795 chr14 104953023
chr14:104953033 C
C
 T
T
 2 a0075c0164
a0076c0163
a0075c0164
a0076c0163
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 synonymous_variant LOW c.2418G>A
c.2418G>A
 p.Pro806Pro
p.Pro806Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2555/18335 2418/17388 806/5795 chr14 104953033
chr14:104953222 A
A
 G
G
 66 a0004c0005
a0004c0157
a0004c0158
others(63): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0063c0168
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0100c0062
a0101c0063
a0207c0206
a0211c0247
 93 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(90): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.2229T>C
c.2229T>C
 p.Leu743Leu
p.Leu743Leu
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2366/18335 2229/17388 743/5795 chr14 104953222
chr14:104953231 A
A
 G
G
 66 a0004c0005
a0004c0157
a0004c0158
others(63): Show 
a0004c0005
a0004c0157
a0004c0158
a0006c0006
a0006c0200
a0009c0043
a0009c0185
a0009c0186
a0010c0011
a0016c0041
a0016c0160
a0017c0015
a0018c0017
a0019c0016
a0020c0018
a0026c0042
a0027c0189
a0027c0190
a0028c0019
a0053c0246
a0056c0159
a0057c0156
a0058c0155
a0059c0161
a0060c0162
a0061c0166
a0062c0167
a0063c0168
a0064c0165
a0065c0203
a0066c0202
a0067c0058
a0068c0169
a0069c0184
a0070c0170
a0071c0177
a0072c0178
a0073c0171
a0074c0179
a0075c0164
a0076c0163
a0077c0182
a0078c0175
a0079c0183
a0080c0180
a0081c0173
a0082c0174
a0083c0176
a0084c0181
a0085c0172
a0086c0188
a0087c0187
a0088c0198
a0089c0196
a0090c0195
a0091c0193
a0092c0191
a0093c0192
a0094c0194
a0095c0197
a0096c0199
a0097c0201
a0100c0062
a0101c0063
a0207c0206
a0211c0247
 93 HG00438.hp2
HG00558.hp1
HG00558.hp2
others(90): Show 
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp2
HG01884.hp1
HG01884.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02132.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA20129.hp1
NA20129.hp2
 synonymous_variant LOW c.2220T>C
c.2220T>C
 p.Asp740Asp
p.Asp740Asp
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2357/18335 2220/17388 740/5795 chr14 104953231
chr14:104953387 T
T
 A
A
 2 a0021c0244
a0055c0205
a0021c0244
a0055c0205
 2 HG02109.hp1
NA18940.hp2
HG02109.hp1
NA18940.hp2
 synonymous_variant LOW c.2064A>T
c.2064A>T
 p.Ser688Ser
p.Ser688Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2201/18335 2064/17388 688/5795 chr14 104953387
chr14:104953390 C
C
 T
T
 1 a0005c0067
a0005c0067
 1 HG01346.hp2
HG01346.hp2
 synonymous_variant LOW c.2061G>A
c.2061G>A
 p.Ala687Ala
p.Ala687Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2198/18335 2061/17388 687/5795 chr14 104953390
chr14:104953396 G
G
 A
A
 1 a0028c0019
a0028c0019
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 synonymous_variant LOW c.2055C>T
c.2055C>T
 p.Phe685Phe
p.Phe685Phe
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2192/18335 2055/17388 685/5795 chr14 104953396
chr14:104953402 T
T
 C
C
 1 a0055c0205
a0055c0205
 1 HG02109.hp1
HG02109.hp1
 synonymous_variant LOW c.2049A>G
c.2049A>G
 p.Pro683Pro
p.Pro683Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 2186/18335 2049/17388 683/5795 chr14 104953402
chr14:104953672 C
C
 T
T
 1 a0181c0060
a0181c0060
 1 HG00673.hp1
HG00673.hp1
 synonymous_variant LOW c.1779G>A
c.1779G>A
 p.Ser593Ser
p.Ser593Ser
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1916/18335 1779/17388 593/5795 chr14 104953672
chr14:104953834 C
C
 G
G
 1 a0196c0207
a0196c0207
 1 HG02486.hp2
HG02486.hp2
 synonymous_variant LOW c.1617G>C
c.1617G>C
 p.Pro539Pro
p.Pro539Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 1754/18335 1617/17388 539/5795 chr14 104953834
chr14:104954590 A
A
 G
G
 55 a0001c0001
a0001c0003
a0001c0045
others(52): Show 
a0001c0001
a0001c0003
a0001c0045
a0011c0012
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0028c0019
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0044c0049
a0051c0051
a0052c0208
a0052c0209
a0067c0058
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0131c0235
a0132c0236
a0144c0238
a0169c0237
a0195c0243
a0196c0207
a0197c0057
a0203c0210
a0205c0245
 85 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(82): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.861T>C
c.861T>C
 p.Pro287Pro
p.Pro287Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 998/18335 861/17388 287/5795 chr14 104954590
chr14:104954713 T
T
 G
G
 52 a0001c0001
a0001c0003
a0001c0045
others(49): Show 
a0001c0001
a0001c0003
a0001c0045
a0011c0012
a0021c0219
a0021c0220
a0021c0244
a0022c0044
a0022c0215
a0025c0052
a0025c0248
a0029c0047
a0030c0223
a0030c0226
a0031c0046
a0032c0050
a0034c0048
a0044c0049
a0051c0051
a0052c0208
a0052c0209
a0104c0212
a0105c0211
a0107c0234
a0108c0218
a0109c0222
a0110c0221
a0111c0232
a0112c0227
a0113c0216
a0114c0225
a0115c0217
a0116c0229
a0117c0224
a0118c0230
a0119c0228
a0120c0214
a0121c0231
a0122c0213
a0123c0233
a0125c0242
a0126c0240
a0127c0241
a0128c0239
a0131c0235
a0132c0236
a0144c0238
a0169c0237
a0195c0243
a0196c0207
a0203c0210
a0205c0245
 81 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(78): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 synonymous_variant LOW c.738A>C
c.738A>C
 p.Pro246Pro
p.Pro246Pro
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 875/18335 738/17388 246/5795 chr14 104954713
chr14:104957491 C
C
 T
T
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.132G>A
c.132G>A
 p.Ala44Ala
p.Ala44Ala
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/7 269/18335 132/17388 44/5795 chr14 104957491
chr14:104957662 A
A
 T
T
 1 a0204c0053
a0204c0053
 1 HG02723.hp2
HG02723.hp2
 synonymous_variant LOW c.66T>A
c.66T>A
 p.Arg22Arg
p.Arg22Arg
 AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 2/7 203/18335 66/17388 22/5795 chr14 104957662

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
chr14:104937274 T
T
 C
C
 4 a0016c0041t0006
a0016c0160t0006
a0059c0161t0013
others(1): Show 
a0016c0041t0006
a0016c0160t0006
a0059c0161t0013
a0060c0162t0006
 5 HG01099.hp1
HG01168.hp2
HG02735.hp2
others(2): Show 
HG01099.hp1
HG01168.hp2
HG02735.hp2
HG03834.hp1
HG04228.hp1
 3_prime_UTR_variant MODIFIER c.*789A>G
c.*789A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 789 chr14 104937274
chr14:104937340 A
A
 G
G
 9 a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
others(6): Show 
a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
a0016c0041t0006
a0016c0160t0006
a0056c0159t0004
a0058c0155t0004
a0059c0161t0013
a0060c0162t0006
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 3_prime_UTR_variant MODIFIER c.*723T>C
c.*723T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 723 chr14 104937340
chr14:104937450 T
T
 C
C
 4 a0030c0223t0007
a0030c0226t0007
a0109c0222t0007
others(1): Show 
a0030c0223t0007
a0030c0226t0007
a0109c0222t0007
a0112c0227t0007
 4 HG02602.hp1
HG03540.hp2
HG04115.hp1
others(1): Show 
HG02602.hp1
HG03540.hp2
HG04115.hp1
NA20905.hp2
 3_prime_UTR_variant MODIFIER c.*613A>G
c.*613A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 613 chr14 104937450
chr14:104937500 T
T
 C
C
 1 a0048c0034t0011
a0048c0034t0011
 1 HG01934.hp2
HG01934.hp2
 3_prime_UTR_variant MODIFIER c.*563A>G
c.*563A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 563 chr14 104937500
chr14:104937530 GC
GC
 G
G
 25 a0032c0050t0003
a0034c0048t0003
a0044c0049t0003
others(22): Show 
a0032c0050t0003
a0034c0048t0003
a0044c0049t0003
a0074c0179t0003
a0077c0182t0003
a0079c0183t0003
a0082c0174t0003
a0083c0176t0003
a0102c0064t0003
a0103c0065t0003
a0125c0242t0003
a0126c0240t0003
a0127c0241t0003
a0128c0239t0003
a0131c0235t0003
a0132c0236t0003
a0144c0238t0003
a0157c0080t0003
a0161c0079t0012
a0169c0237t0003
a0195c0243t0003
a0203c0210t0003
a0208c0056t0003
a0209c0054t0003
a0210c0055t0003
 28 HG02055.hp2
HG02258.hp2
HG02451.hp2
others(25): Show 
HG02055.hp2
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02647.hp2
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA20129.hp2
NA20300.hp2
 3_prime_UTR_variant MODIFIER c.*532delG
c.*532delG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 532 chr14 104937530
chr14:104937677 G
G
 A
A
 9 a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
others(6): Show 
a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
a0016c0041t0006
a0016c0160t0006
a0056c0159t0004
a0058c0155t0004
a0059c0161t0013
a0060c0162t0006
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 3_prime_UTR_variant MODIFIER c.*386C>T
c.*386C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 386 chr14 104937677
chr14:104937757 T
T
 C
C
 1 a0028c0019t0009
a0028c0019t0009
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 3_prime_UTR_variant MODIFIER c.*306A>G
c.*306A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 306 chr14 104937757
chr14:104937788 A
A
 G
G
 1 a0161c0079t0012
a0161c0079t0012
 1 HG03516.hp2
HG03516.hp2
 3_prime_UTR_variant MODIFIER c.*275T>C
c.*275T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 275 chr14 104937788
chr14:104938047 T
T
 C
C
 132 a0001c0001t0002
a0001c0003t0002
a0001c0045t0002
others(129): Show 
a0001c0001t0002
a0001c0003t0002
a0001c0045t0002
a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
a0006c0006t0002
a0006c0200t0002
a0009c0043t0002
a0009c0185t0002
a0009c0186t0002
a0010c0011t0002
a0011c0012t0002
a0015c0035t0002
a0015c0122t0002
a0015c0125t0002
a0016c0041t0006
a0016c0160t0006
a0017c0015t0002
a0018c0017t0005
a0019c0016t0005
a0020c0018t0002
a0021c0219t0002
a0021c0220t0002
a0021c0244t0002
a0022c0044t0002
a0022c0215t0002
a0025c0052t0002
a0025c0248t0002
a0026c0042t0002
a0027c0189t0002
a0027c0190t0002
a0029c0047t0002
a0030c0223t0007
a0030c0226t0007
a0031c0046t0002
a0032c0050t0003
a0034c0048t0003
a0035c0023t0002
a0044c0049t0003
a0046c0032t0002
a0052c0208t0002
a0052c0209t0002
a0053c0246t0002
a0055c0205t0002
a0056c0159t0004
a0057c0156t0010
a0058c0155t0004
a0059c0161t0013
a0060c0162t0006
a0061c0166t0002
a0062c0167t0002
a0065c0203t0002
a0066c0202t0005
a0067c0058t0002
a0068c0169t0002
a0069c0184t0002
a0070c0170t0002
a0071c0177t0002
a0072c0178t0002
a0073c0171t0002
a0074c0179t0003
a0077c0182t0003
a0078c0175t0002
a0079c0183t0003
a0080c0180t0002
a0081c0173t0002
a0082c0174t0003
a0083c0176t0003
a0084c0181t0002
a0085c0172t0002
a0086c0188t0002
a0087c0187t0002
a0088c0198t0002
a0089c0196t0002
a0090c0195t0002
a0093c0192t0002
a0094c0194t0002
a0095c0197t0005
a0096c0199t0002
a0097c0201t0002
a0098c0204t0002
a0100c0062t0002
a0101c0063t0002
a0102c0064t0003
a0103c0065t0003
a0104c0212t0002
a0105c0211t0002
a0107c0234t0002
a0108c0218t0002
a0109c0222t0007
a0110c0221t0002
a0111c0232t0002
a0112c0227t0007
a0113c0216t0002
a0114c0225t0002
a0115c0217t0002
a0116c0229t0002
a0117c0224t0002
a0118c0230t0002
a0119c0228t0002
a0120c0214t0002
a0121c0231t0002
a0122c0213t0015
a0123c0233t0002
a0125c0242t0003
a0126c0240t0003
a0127c0241t0003
a0128c0239t0003
a0130c0075t0002
a0131c0235t0003
a0132c0236t0003
a0144c0238t0003
a0149c0086t0002
a0157c0080t0003
a0161c0079t0012
a0169c0237t0003
a0170c0105t0002
a0173c0114t0002
a0179c0121t0002
a0180c0120t0002
a0182c0128t0002
a0183c0130t0002
a0195c0243t0003
a0196c0207t0002
a0203c0210t0003
a0205c0245t0002
a0207c0206t0002
a0208c0056t0003
a0209c0054t0003
a0210c0055t0003
a0211c0247t0002
 189 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(186): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01261.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01993.hp1
HG02004.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02148.hp2
HG02165.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp1
HG02273.hp2
HG02293.hp2
HG02300.hp1
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02647.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03486.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18945.hp2
NA18948.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18981.hp2
NA18984.hp2
NA18986.hp1
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19081.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*16A>G
c.*16A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 16 chr14 104938047
chr14:104938048 G
G
 A
A
 4 a0018c0017t0005
a0019c0016t0005
a0066c0202t0005
others(1): Show 
a0018c0017t0005
a0019c0016t0005
a0066c0202t0005
a0095c0197t0005
 8 HG00609.hp1
NA18945.hp2
NA18948.hp2
others(5): Show 
HG00609.hp1
NA18945.hp2
NA18948.hp2
NA18977.hp2
NA18998.hp2
NA19005.hp1
NA19058.hp2
NA19081.hp2
 3_prime_UTR_variant MODIFIER c.*15C>T
c.*15C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 15 chr14 104938048
chr14:104938053 G
G
 A
A
 1 a0039c0028t0014
a0039c0028t0014
 1 HG01981.hp2
HG01981.hp2
 3_prime_UTR_variant MODIFIER c.*10C>T
c.*10C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 7/7 10 chr14 104938053
chr14:104978239 G
G
 A
A
 1 a0122c0213t0015
a0122c0213t0015
 1 NA19043.hp2
NA19043.hp2
 5_prime_UTR_variant MODIFIER c.-2C>T
c.-2C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/7 2 chr14 104978239
chr14:104978365 A
A
 G
G
 11 a0002c0112t0008
a0004c0005t0004
a0004c0157t0004
others(8): Show 
a0002c0112t0008
a0004c0005t0004
a0004c0157t0004
a0004c0158t0004
a0008c0007t0008
a0016c0041t0006
a0016c0160t0006
a0056c0159t0004
a0057c0156t0010
a0058c0155t0004
a0060c0162t0006
 18 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(15): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA19079.hp2
 5_prime_UTR_variant MODIFIER c.-128T>C
c.-128T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/7 128 chr14 104978365

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
chr14:104954899 CAGCCAGC
others(10): Show 
CAGCCAGCAGGGTAGTGA
 C
C
 63 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(60): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0069c0184t0002g0209
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 81 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(78): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.651+41_651+57delTC
others(15): Show 
c.651+41_651+57delTCACTACCCTGCTGGCT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 6/6 chr14 104954899
chr14:104954910 G
G
 A
A
 1 a0003c0008t0001g0130
a0003c0008t0001g0130
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.651+47C>T
c.651+47C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 6/6 chr14 104954910
chr14:104954925 G
G
 T
T
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.651+32C>A
c.651+32C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 6/6 chr14 104954925
chr14:104954939 C
C
 T
T
 1 a0145c0089t0001g0080
a0145c0089t0001g0080
 1 HG00140.hp2
HG00140.hp2
 intron_variant MODIFIER c.651+18G>A
c.651+18G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 6/6 chr14 104954939
chr14:104955217 G
G
 C
C
 15 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(12): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 17 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(14): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.467-76C>G
c.467-76C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 5/6 chr14 104955217
chr14:104955230 G
G
 A
A
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.467-89C>T
c.467-89C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 5/6 chr14 104955230
chr14:104955776 C
C
 T
T
 1 a0165c0100t0001g0240
a0165c0100t0001g0240
 1 HG01928.hp1
HG01928.hp1
 intron_variant MODIFIER c.316-143G>A
c.316-143G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955776
chr14:104955825 G
G
 C
C
 3 a0026c0042t0002g0295
a0074c0179t0003g0297
a0085c0172t0002g0296
a0026c0042t0002g0295
a0074c0179t0003g0297
a0085c0172t0002g0296
 3 HG01255.hp2
HG03041.hp2
NA20129.hp2
HG01255.hp2
HG03041.hp2
NA20129.hp2
 intron_variant MODIFIER c.316-192C>G
c.316-192C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955825
chr14:104955891 C
C
 T
T
 66 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(63): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0067c0058t0002g0302
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0169c0237t0003g0139
a0195c0243t0003g0148
a0196c0207t0002g0153
a0203c0210t0003g0149
a0205c0245t0002g0067
 84 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(81): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.316-258G>A
c.316-258G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955891
chr14:104955975 AT
AT
 A
A
 66 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(63): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0067c0058t0002g0302
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0169c0237t0003g0139
a0195c0243t0003g0148
a0196c0207t0002g0153
a0203c0210t0003g0149
a0205c0245t0002g0067
 84 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(81): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02258.hp2
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.316-343delA
c.316-343delA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955975
chr14:104955987 C
C
 T
T
 1 a0122c0213t0015g0304
a0122c0213t0015g0304
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.316-354G>A
c.316-354G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955987
chr14:104955989 C
C
 T
T
 1 a0177c0119t0001g0089
a0177c0119t0001g0089
 1 HG01496.hp2
HG01496.hp2
 intron_variant MODIFIER c.316-356G>A
c.316-356G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104955989
chr14:104956089 G
G
 A
A
 4 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(1): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.316-456C>T
c.316-456C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104956089
chr14:104956103 C
C
 T
T
 1 a0086c0188t0002g0182
a0086c0188t0002g0182
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.316-470G>A
c.316-470G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104956103
chr14:104956243 T
T
 C
C
 183 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(180): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0004t0001g0284
a0007c0104t0001g0239
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0011c0012t0002g0006
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0104c0212t0002g0259
a0105c0211t0002g0061
a0106c0070t0001g0184
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0144c0238t0003g0070
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0190c0151t0001g0168
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 219 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(216): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01255.hp1
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02148.hp1
HG02155.hp1
HG02165.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02698.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.315+345A>G
c.315+345A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104956243
chr14:104956509 T
T
 C
C
 1 a0016c0041t0006g0036
a0016c0041t0006g0036
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.315+79A>G
c.315+79A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 4/6 chr14 104956509
chr14:104956890 A
A
 G
G
 77 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(74): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0004t0001g0284
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0069c0184t0002g0209
a0080c0180t0002g0181
a0081c0173t0002g0180
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 95 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(92): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03195.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.214-201T>C
c.214-201T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104956890
chr14:104956931 C
C
 T
T
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.214-242G>A
c.214-242G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104956931
chr14:104956934 C
C
 T
T
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.214-245G>A
c.214-245G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104956934
chr14:104956940 T
T
 C
C
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.214-251A>G
c.214-251A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104956940
chr14:104957024 T
T
 C
C
 87 a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
others(84): Show 
a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0027c0189t0002g0227
a0027c0190t0002g0228
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0053c0246t0002g0074
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0190c0151t0001g0168
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 103 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(100): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.214-335A>G
c.214-335A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957024
chr14:104957113 T
T
 G
G
 14 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(11): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.213+297A>C
c.213+297A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957113
chr14:104957139 C
C
 T
T
 15 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(12): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 17 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(14): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.213+271G>A
c.213+271G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957139
chr14:104957185 A
A
 G
G
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.213+225T>C
c.213+225T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957185
chr14:104957295 G
G
 A
A
 6 a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
others(3): Show 
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0070c0170t0002g0246
a0098c0204t0002g0292
 6 HG01884.hp1
HG02809.hp2
HG03130.hp1
others(3): Show 
HG01884.hp1
HG02809.hp2
HG03130.hp1
HG03209.hp1
HG03453.hp1
HG06807.hp1
 intron_variant MODIFIER c.213+115C>T
c.213+115C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957295
chr14:104957326 T
T
 C
C
 20 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(17): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0026c0042t0002g0295
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0071c0177t0002g0144
a0074c0179t0003g0297
a0085c0172t0002g0296
a0196c0207t0002g0153
 22 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(19): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01255.hp2
HG02257.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp2
HG03041.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA20129.hp2
 intron_variant MODIFIER c.213+84A>G
c.213+84A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957326
chr14:104957329 A
A
 C
C
 20 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(17): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0026c0042t0002g0295
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0071c0177t0002g0144
a0074c0179t0003g0297
a0085c0172t0002g0296
a0196c0207t0002g0153
 22 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(19): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01255.hp2
HG02257.hp1
HG02486.hp2
HG02698.hp2
HG02735.hp2
HG03041.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA20129.hp2
 intron_variant MODIFIER c.213+81T>G
c.213+81T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 3/6 chr14 104957329
chr14:104957554 G
G
 A
A
 2 a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0012
a0001c0001t0002g0051
 3 HG01071.hp2
HG01257.hp1
HG01433.hp1
HG01071.hp2
HG01257.hp1
HG01433.hp1
 intron_variant MODIFIER c.115-46C>T
c.115-46C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 2/6 chr14 104957554
chr14:104957711 G
G
 C
C
 1 a0134c0096t0001g0218
a0134c0096t0001g0218
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.56-39C>G
c.56-39C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104957711
chr14:104957731 G
G
 A
A
 4 a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
others(1): Show 
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0104c0212t0002g0259
 4 HG02015.hp2
HG02129.hp1
HG02165.hp2
others(1): Show 
HG02015.hp2
HG02129.hp1
HG02165.hp2
NA18940.hp2
 intron_variant MODIFIER c.56-59C>T
c.56-59C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104957731
chr14:104957836 A
A
 C
C
 102 a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
others(99): Show 
a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 118 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(115): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02717.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-164T>G
c.56-164T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104957836
chr14:104957853 A
A
 T
T
 102 a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
others(99): Show 
a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 118 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(115): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02717.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-181T>A
c.56-181T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104957853
chr14:104958068 C
C
 G
G
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-396G>C
c.56-396G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958068
chr14:104958095 G
G
 C
C
 74 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(71): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0004t0001g0284
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 92 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(89): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-423C>G
c.56-423C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958095
chr14:104958237 T
T
 C
C
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-565A>G
c.56-565A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958237
chr14:104958258 C
C
 G
G
 96 a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
others(93): Show 
a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 112 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(109): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.56-586G>C
c.56-586G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958258
chr14:104958294 C
C
 T
T
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0196c0207t0002g0153
 4 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-622G>A
c.56-622G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958294
chr14:104958444 G
G
 A
A
 1 a0118c0230t0002g0262
a0118c0230t0002g0262
 1 HG02698.hp1
HG02698.hp1
 intron_variant MODIFIER c.56-772C>T
c.56-772C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958444
chr14:104958445 T
T
 C
C
 92 a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
others(89): Show 
a0002c0112t0008g0034
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0027c0189t0002g0227
a0027c0190t0002g0228
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 108 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(105): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG02809.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.56-773A>G
c.56-773A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958445
chr14:104958565 A
A
 AT
AT
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0196c0207t0002g0153
 4 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-894dupA
c.56-894dupA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958565
chr14:104958628 T
T
 C
C
 5 a0007c0004t0001g0242
a0007c0004t0001g0244
a0007c0004t0001g0284
others(2): Show 
a0007c0004t0001g0242
a0007c0004t0001g0244
a0007c0004t0001g0284
a0165c0100t0001g0240
a0166c0103t0001g0241
 5 HG01192.hp1
HG01928.hp1
HG01978.hp2
others(2): Show 
HG01192.hp1
HG01928.hp1
HG01978.hp2
HG02148.hp1
HG02293.hp1
 intron_variant MODIFIER c.56-956A>G
c.56-956A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958628
chr14:104958749 A
A
 C
C
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-1077T>G
c.56-1077T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104958749
chr14:104959032 TC
TC
 T
T
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0196c0207t0002g0153
 4 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-1361delG
c.56-1361delG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959032
chr14:104959171 C
C
 T
T
 3 a0062c0167t0002g0230
a0063c0168t0001g0248
a0098c0204t0002g0292
a0062c0167t0002g0230
a0063c0168t0001g0248
a0098c0204t0002g0292
 3 HG02809.hp2
HG03453.hp1
HG06807.hp1
HG02809.hp2
HG03453.hp1
HG06807.hp1
 intron_variant MODIFIER c.56-1499G>A
c.56-1499G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959171
chr14:104959180 A
A
 T
T
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0196c0207t0002g0153
 4 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-1508T>A
c.56-1508T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959180
chr14:104959181 T
T
 A
A
 2 a0057c0156t0010g0046
a0058c0155t0004g0047
a0057c0156t0010g0046
a0058c0155t0004g0047
 2 NA18951.hp1
NA18970.hp1
NA18951.hp1
NA18970.hp1
 intron_variant MODIFIER c.56-1509A>T
c.56-1509A>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959181
chr14:104959196 G
G
 A
A
 1 a0002c0002t0001g0280
a0002c0002t0001g0280
 1 HG02040.hp1
HG02040.hp1
 intron_variant MODIFIER c.56-1524C>T
c.56-1524C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959196
chr14:104959305 T
T
 C
C
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-1633A>G
c.56-1633A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959305
chr14:104959348 C
C
 T
T
 1 a0027c0190t0002g0228
a0027c0190t0002g0228
 1 HG02027.hp2
HG02027.hp2
 intron_variant MODIFIER c.56-1676G>A
c.56-1676G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959348
chr14:104959391 T
T
 C
C
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0196c0207t0002g0153
 4 HG02486.hp2
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02486.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-1719A>G
c.56-1719A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959391
chr14:104959409 A
A
 G
G
 1 a0008c0007t0001g0032
a0008c0007t0001g0032
 2 NA19063.hp2
NA19084.hp1
NA19063.hp2
NA19084.hp1
 intron_variant MODIFIER c.56-1737T>C
c.56-1737T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959409
chr14:104959466 G
G
 A
A
 1 a0156c0144t0001g0158
a0156c0144t0001g0158
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.56-1794C>T
c.56-1794C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959466
chr14:104959505 T
T
 C
C
 4 a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
others(1): Show 
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0098c0204t0002g0292
 4 HG01884.hp1
HG02809.hp2
HG03453.hp1
others(1): Show 
HG01884.hp1
HG02809.hp2
HG03453.hp1
HG06807.hp1
 intron_variant MODIFIER c.56-1833A>G
c.56-1833A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959505
chr14:104959708 A
A
 G
G
 1 a0022c0044t0002g0057
a0022c0044t0002g0057
 1 HG01433.hp2
HG01433.hp2
 intron_variant MODIFIER c.56-2036T>C
c.56-2036T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959708
chr14:104959753 G
G
 A
A
 1 a0067c0058t0002g0302
a0067c0058t0002g0302
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.56-2081C>T
c.56-2081C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104959753
chr14:104960032 A
A
 G
G
 114 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(111): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0220t0002g0263
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0199c0069t0001g0226
a0204c0053t0001g0065
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 132 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(129): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-2360T>C
c.56-2360T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960032
chr14:104960187 A
A
 G
G
 5 a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
others(2): Show 
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0091c0193t0001g0160
 5 NA18952.hp1
NA18959.hp2
NA18964.hp2
others(2): Show 
NA18952.hp1
NA18959.hp2
NA18964.hp2
NA18966.hp1
NA19002.hp2
 intron_variant MODIFIER c.56-2515T>C
c.56-2515T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960187
chr14:104960298 A
A
 C
C
 1 a0016c0160t0006g0044
a0016c0160t0006g0044
 1 HG01099.hp1
HG01099.hp1
 intron_variant MODIFIER c.56-2626T>G
c.56-2626T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960298
chr14:104960308 A
A
 G
G
 15 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(12): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 17 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(14): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-2636T>C
c.56-2636T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960308
chr14:104960383 TATTTACA
others(4): Show 
TATTTACATAGC
 T
T
 1 a0131c0235t0003g0132
a0131c0235t0003g0132
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.56-2722_56-2712del
others(11): Show 
c.56-2722_56-2712delGCTATGTAAAT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960383
chr14:104960446 G
G
 C
C
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-2774C>G
c.56-2774C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960446
chr14:104960956 A
A
 AT
AT
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-3285_56-3284ins
others(1): Show 
c.56-3285_56-3284insA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960956
chr14:104960957 C
C
 G
G
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-3285G>C
c.56-3285G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960957
chr14:104960959 C
C
 T
T
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-3287G>A
c.56-3287G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960959
chr14:104960960 C
C
 G
G
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.56-3288G>C
c.56-3288G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960960
chr14:104960974 T
T
 C
C
 2 a0137c0094t0001g0111
a0138c0095t0001g0112
a0137c0094t0001g0111
a0138c0095t0001g0112
 2 HG02647.hp1
HG02809.hp1
HG02647.hp1
HG02809.hp1
 intron_variant MODIFIER c.56-3302A>G
c.56-3302A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960974
chr14:104960983 T
T
 C
C
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.56-3311A>G
c.56-3311A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104960983
chr14:104961073 G
G
 A
A
 1 a0115c0217t0002g0064
a0115c0217t0002g0064
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.56-3401C>T
c.56-3401C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961073
chr14:104961131 C
C
 CA
CA
 9 a0010c0011t0002g0176
a0027c0190t0002g0228
a0037c0029t0001g0079
others(6): Show 
a0010c0011t0002g0176
a0027c0190t0002g0228
a0037c0029t0001g0079
a0091c0193t0001g0160
a0143c0087t0001g0085
a0146c0090t0001g0113
a0150c0082t0001g0088
a0189c0073t0001g0087
a0204c0053t0001g0065
 9 HG02027.hp2
HG02055.hp1
HG02723.hp2
others(6): Show 
HG02027.hp2
HG02055.hp1
HG02723.hp2
HG02965.hp1
HG02965.hp2
HG03516.hp1
NA18964.hp2
NA18980.hp2
NA19002.hp2
 intron_variant MODIFIER c.56-3460dupT
c.56-3460dupT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961131
chr14:104961196 G
G
 A
A
 1 a0105c0211t0002g0061
a0105c0211t0002g0061
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.56-3524C>T
c.56-3524C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961196
chr14:104961215 G
G
 A
A
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-3543C>T
c.56-3543C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961215
chr14:104961241 A
A
 G
G
 4 a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0045t0002g0013
others(1): Show 
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0045t0002g0013
a0057c0156t0010g0046
 9 HG01081.hp2
HG01123.hp1
HG01256.hp1
others(6): Show 
HG01081.hp2
HG01123.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01981.hp1
HG02293.hp2
HG02300.hp2
NA18951.hp1
 intron_variant MODIFIER c.56-3569T>C
c.56-3569T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961241
chr14:104961267 C
C
 A
A
 7 a0026c0042t0002g0295
a0071c0177t0002g0144
a0072c0178t0002g0298
others(4): Show 
a0026c0042t0002g0295
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0204c0053t0001g0065
 7 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(4): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG02723.hp2
HG03041.hp2
NA20129.hp2
 intron_variant MODIFIER c.56-3595G>T
c.56-3595G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961267
chr14:104961291 G
G
 T
T
 1 a0191c0150t0001g0090
a0191c0150t0001g0090
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.56-3619C>A
c.56-3619C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961291
chr14:104961303 A
A
 T
T
 1 a0001c0003t0002g0264
a0001c0003t0002g0264
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.56-3631T>A
c.56-3631T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961303
chr14:104961311 A
A
 G
G
 1 a0172c0124t0001g0225
a0172c0124t0001g0225
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.56-3639T>C
c.56-3639T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961311
chr14:104961313 A
A
 G
G
 2 a0094c0194t0002g0166
a0172c0124t0001g0225
a0094c0194t0002g0166
a0172c0124t0001g0225
 2 HG03669.hp1
NA18969.hp1
HG03669.hp1
NA18969.hp1
 intron_variant MODIFIER c.56-3641T>C
c.56-3641T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961313
chr14:104961325 T
T
 C
C
 3 a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
 3 HG01071.hp1
HG01081.hp1
NA20905.hp1
HG01071.hp1
HG01081.hp1
NA20905.hp1
 intron_variant MODIFIER c.56-3653A>G
c.56-3653A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961325
chr14:104961327 A
A
 T
T
 1 a0142c0085t0001g0212
a0142c0085t0001g0212
 1 HG02074.hp2
HG02074.hp2
 intron_variant MODIFIER c.56-3655T>A
c.56-3655T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961327
chr14:104961330 C
C
 T
T
 3 a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
 3 HG01071.hp1
HG01081.hp1
NA20905.hp1
HG01071.hp1
HG01081.hp1
NA20905.hp1
 intron_variant MODIFIER c.56-3658G>A
c.56-3658G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961330
chr14:104961331 A
A
 G
G
 4 a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
others(1): Show 
a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
a0155c0084t0001g0211
 4 HG01071.hp1
HG01081.hp1
HG01256.hp2
others(1): Show 
HG01071.hp1
HG01081.hp1
HG01256.hp2
NA20905.hp1
 intron_variant MODIFIER c.56-3659T>C
c.56-3659T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961331
chr14:104961336 A
A
 T
T
 1 a0155c0084t0001g0211
a0155c0084t0001g0211
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.56-3664T>A
c.56-3664T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961336
chr14:104961432 T
T
 G
G
 1 a0095c0197t0005g0178
a0095c0197t0005g0178
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.56-3760A>C
c.56-3760A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961432
chr14:104961433 G
G
 A
A
 4 a0005c0027t0001g0266
a0005c0027t0001g0282
a0129c0133t0001g0052
others(1): Show 
a0005c0027t0001g0266
a0005c0027t0001g0282
a0129c0133t0001g0052
a0148c0081t0001g0283
 4 HG01517.hp1
HG02559.hp1
HG03710.hp1
others(1): Show 
HG01517.hp1
HG02559.hp1
HG03710.hp1
NA20805.hp1
 intron_variant MODIFIER c.56-3761C>T
c.56-3761C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961433
chr14:104961435 A
A
 C
C
 1 a0095c0197t0005g0178
a0095c0197t0005g0178
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.56-3763T>G
c.56-3763T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961435
chr14:104961435 AC
AC
 A
A
 6 a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
others(3): Show 
a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
a0025c0248t0002g0063
a0115c0217t0002g0064
a0120c0214t0002g0062
 12 HG00099.hp2
HG00735.hp2
HG00741.hp1
others(9): Show 
HG00099.hp2
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01255.hp1
HG01517.hp2
HG01975.hp2
HG03704.hp1
HG04184.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-3764delG
c.56-3764delG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961435
chr14:104961443 G
G
 A
A
 6 a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
others(3): Show 
a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
a0025c0248t0002g0063
a0115c0217t0002g0064
a0120c0214t0002g0062
 12 HG00099.hp2
HG00735.hp2
HG00741.hp1
others(9): Show 
HG00099.hp2
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01255.hp1
HG01517.hp2
HG01975.hp2
HG03704.hp1
HG04184.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-3771C>T
c.56-3771C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961443
chr14:104961445 G
G
 A
A
 6 a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
others(3): Show 
a0001c0001t0002g0001
a0001c0001t0002g0056
a0025c0052t0002g0014
a0025c0248t0002g0063
a0115c0217t0002g0064
a0120c0214t0002g0062
 12 HG00099.hp2
HG00735.hp2
HG00741.hp1
others(9): Show 
HG00099.hp2
HG00735.hp2
HG00741.hp1
HG01109.hp2
HG01255.hp1
HG01517.hp2
HG01975.hp2
HG03704.hp1
HG04184.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-3773C>T
c.56-3773C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961445
chr14:104961473 T
T
 C
C
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-3801A>G
c.56-3801A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961473
chr14:104961488 C
C
 A
A
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-3816G>T
c.56-3816G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961488
chr14:104961494 G
G
 T
T
 1 a0176c0135t0001g0077
a0176c0135t0001g0077
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.56-3822C>A
c.56-3822C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961494
chr14:104961512 T
T
 TA
TA
 120 a0002c0031t0001g0271
a0002c0112t0008g0034
a0004c0005t0004g0010
others(117): Show 
a0002c0031t0001g0271
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0019c0016t0005g0028
a0020c0018t0002g0009
a0021c0220t0002g0263
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 136 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(133): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19079.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-3841dupT
c.56-3841dupT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961512
chr14:104961761 C
C
 T
T
 3 a0011c0012t0002g0006
a0029c0047t0002g0031
a0107c0234t0002g0252
a0011c0012t0002g0006
a0029c0047t0002g0031
a0107c0234t0002g0252
 7 NA18953.hp1
NA19002.hp1
NA19004.hp2
others(4): Show 
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
 intron_variant MODIFIER c.56-4089G>A
c.56-4089G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961761
chr14:104961841 C
C
 T
T
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-4169G>A
c.56-4169G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961841
chr14:104961866 G
G
 A
A
 1 a0124c0071t0001g0123
a0124c0071t0001g0123
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.56-4194C>T
c.56-4194C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961866
chr14:104961979 C
C
 T
T
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-4307G>A
c.56-4307G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104961979
chr14:104962012 T
T
 C
C
 4 a0133c0097t0001g0116
a0208c0056t0003g0115
a0209c0054t0003g0134
others(1): Show 
a0133c0097t0001g0116
a0208c0056t0003g0115
a0209c0054t0003g0134
a0210c0055t0003g0114
 4 HG02572.hp2
HG02615.hp2
HG02630.hp2
others(1): Show 
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02647.hp2
 intron_variant MODIFIER c.56-4340A>G
c.56-4340A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962012
chr14:104962049 G
G
 A
A
 1 a0064c0165t0001g0247
a0064c0165t0001g0247
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.56-4377C>T
c.56-4377C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962049
chr14:104962154 T
T
 C
C
 2 a0048c0034t0001g0054
a0175c0116t0001g0152
a0048c0034t0001g0054
a0175c0116t0001g0152
 2 HG00733.hp2
HG01123.hp2
HG00733.hp2
HG01123.hp2
 intron_variant MODIFIER c.56-4482A>G
c.56-4482A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962154
chr14:104962203 C
C
 T
T
 1 a0045c0024t0001g0142
a0045c0024t0001g0142
 1 NA18906.hp1
NA18906.hp1
 intron_variant MODIFIER c.56-4531G>A
c.56-4531G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962203
chr14:104962279 C
C
 T
T
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.56-4607G>A
c.56-4607G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962279
chr14:104962339 C
C
 T
T
 1 a0010c0011t0002g0176
a0010c0011t0002g0176
 1 NA18964.hp2
NA18964.hp2
 intron_variant MODIFIER c.56-4667G>A
c.56-4667G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962339
chr14:104962377 A
A
 G
G
 18 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(15): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0197c0057t0001g0068
 20 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(17): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02109.hp1
HG02698.hp2
HG02735.hp2
HG02922.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-4705T>C
c.56-4705T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962377
chr14:104962421 T
T
 C
C
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-4749A>G
c.56-4749A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962421
chr14:104962476 A
A
 G
G
 18 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(15): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0197c0057t0001g0068
 20 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(17): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02109.hp1
HG02698.hp2
HG02735.hp2
HG02922.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-4804T>C
c.56-4804T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962476
chr14:104962592 A
A
 AT
AT
 10 a0001c0001t0002g0056
a0002c0031t0001g0271
a0007c0004t0001g0237
others(7): Show 
a0001c0001t0002g0056
a0002c0031t0001g0271
a0007c0004t0001g0237
a0033c0022t0001g0285
a0040c0038t0001g0174
a0068c0169t0002g0071
a0088c0198t0002g0175
a0158c0143t0001g0169
a0177c0119t0001g0089
a0200c0153t0001g0270
 10 HG00438.hp1
HG00738.hp2
HG01496.hp2
others(7): Show 
HG00438.hp1
HG00738.hp2
HG01496.hp2
HG01978.hp1
HG02630.hp1
HG03834.hp2
HG04184.hp1
NA18967.hp1
NA19076.hp2
NA19090.hp1
 intron_variant MODIFIER c.56-4921dupA
c.56-4921dupA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962592
chr14:104962592 AT
AT
 A
A
 6 a0008c0007t0001g0281
a0075c0164t0001g0301
a0076c0163t0001g0300
others(3): Show 
a0008c0007t0001g0281
a0075c0164t0001g0301
a0076c0163t0001g0300
a0160c0078t0001g0117
a0198c0152t0001g0118
a0204c0053t0001g0065
 6 HG01884.hp2
HG02717.hp2
HG02723.hp2
others(3): Show 
HG01884.hp2
HG02717.hp2
HG02723.hp2
HG03041.hp1
NA18954.hp2
NA19088.hp1
 intron_variant MODIFIER c.56-4921delA
c.56-4921delA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962592
chr14:104962645 A
A
 T
T
 24 a0001c0003t0002g0264
a0011c0012t0002g0006
a0021c0219t0002g0260
others(21): Show 
a0001c0003t0002g0264
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0114c0225t0002g0234
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0121c0231t0002g0251
a0123c0233t0002g0299
 28 HG00323.hp1
HG01071.hp1
HG01074.hp2
others(25): Show 
HG00323.hp1
HG01071.hp1
HG01074.hp2
HG01081.hp1
HG02015.hp2
HG02129.hp1
HG02165.hp2
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG04115.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20905.hp1
NA20905.hp2
 intron_variant MODIFIER c.56-4973T>A
c.56-4973T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962645
chr14:104962746 C
C
 A
A
 1 a0127c0241t0003g0138
a0127c0241t0003g0138
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.56-5074G>T
c.56-5074G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962746
chr14:104962851 T
T
 A
A
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-5179A>T
c.56-5179A>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962851
chr14:104962863 T
T
 C
C
 3 a0055c0205t0002g0069
a0196c0207t0002g0153
a0197c0057t0001g0068
a0055c0205t0002g0069
a0196c0207t0002g0153
a0197c0057t0001g0068
 3 HG02109.hp1
HG02486.hp2
HG02922.hp2
HG02109.hp1
HG02486.hp2
HG02922.hp2
 intron_variant MODIFIER c.56-5191A>G
c.56-5191A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962863
chr14:104962874 A
A
 T
T
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-5202T>A
c.56-5202T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962874
chr14:104962941 A
A
 G
G
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-5269T>C
c.56-5269T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962941
chr14:104962994 G
G
 A
A
 1 a0066c0202t0005g0203
a0066c0202t0005g0203
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.56-5322C>T
c.56-5322C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104962994
chr14:104963049 A
A
 G
G
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.56-5377T>C
c.56-5377T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963049
chr14:104963086 G
G
 C
C
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.56-5414C>G
c.56-5414C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963086
chr14:104963307 G
G
 A
A
 2 a0005c0027t0001g0282
a0148c0081t0001g0283
a0005c0027t0001g0282
a0148c0081t0001g0283
 2 HG02559.hp1
HG03710.hp1
HG02559.hp1
HG03710.hp1
 intron_variant MODIFIER c.56-5635C>T
c.56-5635C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963307
chr14:104963593 G
G
 A
A
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.56-5921C>T
c.56-5921C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963593
chr14:104963652 A
A
 G
G
 1 a0114c0225t0002g0234
a0114c0225t0002g0234
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.56-5980T>C
c.56-5980T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963652
chr14:104963747 G
G
 A
A
 3 a0055c0205t0002g0069
a0196c0207t0002g0153
a0197c0057t0001g0068
a0055c0205t0002g0069
a0196c0207t0002g0153
a0197c0057t0001g0068
 3 HG02109.hp1
HG02486.hp2
HG02922.hp2
HG02109.hp1
HG02486.hp2
HG02922.hp2
 intron_variant MODIFIER c.56-6075C>T
c.56-6075C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963747
chr14:104963762 G
G
 A
A
 3 a0022c0215t0002g0224
a0055c0205t0002g0069
a0197c0057t0001g0068
a0022c0215t0002g0224
a0055c0205t0002g0069
a0197c0057t0001g0068
 3 HG02109.hp1
HG02922.hp2
HG03654.hp1
HG02109.hp1
HG02922.hp2
HG03654.hp1
 intron_variant MODIFIER c.56-6090C>T
c.56-6090C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963762
chr14:104963784 T
T
 C
C
 127 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(124): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0220t0002g0263
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0204c0053t0001g0065
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 145 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(142): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-6112A>G
c.56-6112A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963784
chr14:104963824 C
C
 T
T
 4 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(1): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.56-6152G>A
c.56-6152G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963824
chr14:104963825 G
G
 A
A
 1 a0003c0008t0001g0130
a0003c0008t0001g0130
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.56-6153C>T
c.56-6153C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963825
chr14:104963828 T
T
 TA
TA
 12 a0004c0158t0004g0039
a0010c0011t0002g0204
a0017c0015t0002g0162
others(9): Show 
a0004c0158t0004g0039
a0010c0011t0002g0204
a0017c0015t0002g0162
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0090c0195t0002g0205
a0096c0199t0002g0229
a0158c0143t0001g0169
a0199c0069t0001g0226
a0211c0247t0002g0206
 14 HG00438.hp2
HG00597.hp2
HG02056.hp1
others(11): Show 
HG00438.hp2
HG00597.hp2
HG02056.hp1
HG02080.hp2
HG02132.hp2
HG02155.hp2
HG02738.hp2
NA18747.hp2
NA18954.hp1
NA18956.hp1
NA18966.hp1
NA18966.hp2
NA19012.hp2
NA19076.hp2
 intron_variant MODIFIER c.56-6157dupT
c.56-6157dupT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963828
chr14:104963828 T
T
 TAAA
TAAA
 7 a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
others(4): Show 
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0196c0207t0002g0153
 7 HG01099.hp2
HG02257.hp1
HG02486.hp2
others(4): Show 
HG01099.hp2
HG02257.hp1
HG02486.hp2
HG02717.hp1
HG03139.hp1
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-6159_56-6157dup
others(3): Show 
c.56-6159_56-6157dupTTT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963828
chr14:104963840 AG
AG
 A
A
 8 a0004c0005t0004g0010
a0004c0005t0004g0040
a0004c0005t0004g0041
others(5): Show 
a0004c0005t0004g0010
a0004c0005t0004g0040
a0004c0005t0004g0041
a0009c0043t0002g0173
a0014c0009t0001g0171
a0028c0019t0009g0049
a0043c0040t0001g0172
a0055c0205t0002g0069
 9 HG02109.hp1
HG02896.hp1
NA18956.hp2
others(6): Show 
HG02109.hp1
HG02896.hp1
NA18956.hp2
NA19005.hp2
NA19055.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19085.hp2
 intron_variant MODIFIER c.56-6169delC
c.56-6169delC
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963840
chr14:104963841 G
G
 A
A
 117 a0002c0112t0008g0034
a0004c0005t0004g0011
a0004c0005t0004g0043
others(114): Show 
a0002c0112t0008g0034
a0004c0005t0004g0011
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0196c0207t0002g0153
a0199c0069t0001g0226
a0204c0053t0001g0065
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 134 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(131): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02486.hp2
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-6169C>T
c.56-6169C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963841
chr14:104963850 A
A
 G
G
 4 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(1): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.56-6178T>C
c.56-6178T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963850
chr14:104963852 G
G
 A
A
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.56-6180C>T
c.56-6180C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104963852
chr14:104964319 G
G
 T
T
 2 a0077c0182t0003g0170
a0079c0183t0003g0164
a0077c0182t0003g0170
a0079c0183t0003g0164
 2 HG03098.hp1
HG03471.hp1
HG03098.hp1
HG03471.hp1
 intron_variant MODIFIER c.56-6647C>A
c.56-6647C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964319
chr14:104964382 G
G
 A
A
 107 a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
others(104): Show 
a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0199c0069t0001g0226
a0204c0053t0001g0065
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 123 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(120): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp2
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-6710C>T
c.56-6710C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964382
chr14:104964401 G
G
 A
A
 73 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(70): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0004t0001g0284
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 91 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-6729C>T
c.56-6729C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964401
chr14:104964408 C
C
 G
G
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.56-6736G>C
c.56-6736G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964408
chr14:104964590 T
T
 G
G
 75 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(72): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0005c0067t0001g0129
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0004t0001g0284
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 93 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(90): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01192.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-6918A>C
c.56-6918A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964590
chr14:104964850 A
A
 T
T
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-7178T>A
c.56-7178T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964850
chr14:104964851 T
T
 G
G
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-7179A>C
c.56-7179A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964851
chr14:104964984 C
C
 T
T
 3 a0001c0003t0002g0055
a0075c0164t0001g0301
a0076c0163t0001g0300
a0001c0003t0002g0055
a0075c0164t0001g0301
a0076c0163t0001g0300
 3 HG01884.hp2
HG02293.hp2
HG02717.hp2
HG01884.hp2
HG02293.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-7312G>A
c.56-7312G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104964984
chr14:104965171 C
C
 T
T
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-7499G>A
c.56-7499G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965171
chr14:104965401 C
C
 CAAA
CAAA
 14 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0041
others(11): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0197c0057t0001g0068
 16 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(13): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG02922.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-7732_56-7730dup
others(3): Show 
c.56-7732_56-7730dupTTT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965401
chr14:104965401 CA
CA
 C
C
 82 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0053
others(79): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0002t0001g0267
a0003c0008t0001g0086
a0003c0008t0001g0120
a0003c0008t0001g0130
a0005c0027t0001g0266
a0005c0067t0001g0129
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0068c0169t0002g0071
a0075c0164t0001g0301
a0076c0163t0001g0300
a0100c0062t0002g0154
a0101c0063t0002g0155
a0103c0065t0003g0156
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0150c0082t0001g0088
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0182c0128t0002g0269
a0184c0123t0001g0268
a0189c0073t0001g0087
a0192c0137t0001g0078
a0195c0243t0003g0148
 100 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(97): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG02015.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02717.hp2
HG02738.hp1
HG02896.hp2
HG02965.hp1
HG02965.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18951.hp2
NA18953.hp1
NA18969.hp2
NA19002.hp1
NA19004.hp2
NA19030.hp2
NA19043.hp2
NA19055.hp2
NA19058.hp1
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-7730delT
c.56-7730delT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965401
chr14:104965401 CAA
CAA
 C
C
 97 a0001c0001t0002g0051
a0002c0112t0008g0034
a0005c0013t0001g0202
others(94): Show 
a0001c0001t0002g0051
a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0050
a0031c0046t0002g0250
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0053c0246t0002g0074
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0102c0064t0003g0157
a0106c0070t0001g0184
a0117c0224t0002g0249
a0121c0231t0002g0251
a0126c0240t0003g0146
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0164c0139t0001g0185
a0196c0207t0002g0153
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 113 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(110): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG00733.hp1
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01257.hp1
HG01346.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02273.hp1
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02897.hp1
HG02897.hp2
HG02976.hp1
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.56-7731_56-7730del
others(2): Show 
c.56-7731_56-7730delTT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965401
chr14:104965401 CAAA
CAAA
 C
C
 8 a0010c0011t0002g0219
a0014c0009t0001g0167
a0028c0019t0009g0049
others(5): Show 
a0010c0011t0002g0219
a0014c0009t0001g0167
a0028c0019t0009g0049
a0094c0194t0002g0166
a0098c0204t0002g0292
a0140c0093t0001g0210
a0158c0143t0001g0169
a0190c0151t0001g0168
 8 HG02165.hp1
HG02809.hp2
HG02896.hp1
others(5): Show 
HG02165.hp1
HG02809.hp2
HG02896.hp1
NA18950.hp1
NA18959.hp1
NA18959.hp2
NA18969.hp1
NA19076.hp2
 intron_variant MODIFIER c.56-7732_56-7730del
others(3): Show 
c.56-7732_56-7730delTTT
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965401
chr14:104965417 A
A
 G
G
 1 a0005c0067t0001g0129
a0005c0067t0001g0129
 1 HG01346.hp2
HG01346.hp2
 intron_variant MODIFIER c.56-7745T>C
c.56-7745T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965417
chr14:104965465 G
G
 A
A
 5 a0037c0029t0001g0294
a0061c0166t0002g0293
a0062c0167t0002g0230
others(2): Show 
a0037c0029t0001g0294
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0098c0204t0002g0292
 5 HG01884.hp1
HG02809.hp2
HG03139.hp2
others(2): Show 
HG01884.hp1
HG02809.hp2
HG03139.hp2
HG03453.hp1
HG06807.hp1
 intron_variant MODIFIER c.56-7793C>T
c.56-7793C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965465
chr14:104965485 G
G
 A
A
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.56-7813C>T
c.56-7813C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965485
chr14:104965486 T
T
 G
G
 11 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(8): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0055c0205t0002g0069
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
a0197c0057t0001g0068
 11 HG01099.hp2
HG01255.hp2
HG02109.hp1
others(8): Show 
HG01099.hp2
HG01255.hp2
HG02109.hp1
HG02257.hp1
HG02717.hp1
HG02922.hp2
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-7814A>C
c.56-7814A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965486
chr14:104965612 A
A
 C
C
 207 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(204): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0005c0025t0001g0015
a0005c0067t0001g0129
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0011c0012t0002g0006
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0025c0052t0002g0014
a0025c0248t0002g0063
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0068c0169t0002g0071
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0104c0212t0002g0259
a0105c0211t0002g0061
a0106c0070t0001g0184
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0144c0238t0003g0070
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0190c0151t0001g0168
a0192c0137t0001g0078
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 244 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(241): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-7940T>G
c.56-7940T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965612
chr14:104965617 G
G
 C
C
 2 a0028c0019t0009g0049
a0028c0019t0009g0050
a0028c0019t0009g0049
a0028c0019t0009g0050
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.56-7945C>G
c.56-7945C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965617
chr14:104965673 A
A
 G
G
 1 a0098c0204t0002g0292
a0098c0204t0002g0292
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.56-8001T>C
c.56-8001T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965673
chr14:104965707 G
G
 A
A
 55 a0003c0008t0001g0086
a0003c0008t0001g0100
a0003c0008t0001g0120
others(52): Show 
a0003c0008t0001g0086
a0003c0008t0001g0100
a0003c0008t0001g0120
a0003c0008t0001g0130
a0003c0033t0001g0022
a0003c0115t0001g0125
a0003c0117t0001g0126
a0003c0129t0001g0104
a0003c0134t0001g0106
a0003c0149t0001g0109
a0005c0013t0001g0095
a0005c0091t0001g0150
a0015c0035t0002g0020
a0015c0122t0002g0102
a0024c0014t0001g0007
a0026c0042t0002g0124
a0036c0030t0001g0018
a0037c0029t0001g0079
a0046c0032t0002g0019
a0048c0034t0001g0054
a0048c0034t0011g0151
a0049c0118t0001g0099
a0049c0127t0001g0103
a0099c0061t0001g0091
a0124c0071t0001g0123
a0130c0075t0002g0093
a0133c0097t0001g0116
a0137c0094t0001g0111
a0138c0095t0001g0112
a0141c0092t0001g0096
a0146c0090t0001g0113
a0150c0082t0001g0088
a0157c0080t0003g0121
a0159c0141t0001g0108
a0160c0078t0001g0117
a0162c0077t0001g0094
a0163c0098t0001g0122
a0170c0105t0002g0076
a0171c0107t0001g0097
a0172c0124t0001g0225
a0175c0116t0001g0152
a0177c0119t0001g0089
a0178c0108t0001g0098
a0179c0121t0002g0101
a0183c0130t0002g0105
a0188c0074t0001g0092
a0189c0073t0001g0087
a0191c0150t0001g0090
a0193c0138t0001g0075
a0194c0136t0001g0107
a0198c0152t0001g0118
a0201c0154t0001g0110
a0208c0056t0003g0115
a0209c0054t0003g0134
a0210c0055t0003g0114
 61 HG00140.hp1
HG00323.hp2
HG00642.hp2
others(58): Show 
HG00140.hp1
HG00323.hp2
HG00642.hp2
HG00733.hp2
HG00738.hp1
HG01106.hp1
HG01123.hp2
HG01175.hp1
HG01261.hp2
HG01496.hp2
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG02004.hp1
HG02055.hp1
HG02109.hp2
HG02148.hp2
HG02258.hp1
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02486.hp1
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02735.hp1
HG02809.hp1
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03130.hp2
HG03195.hp1
HG03209.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp2
HG03516.hp1
HG03669.hp1
HG03927.hp1
NA18747.hp1
NA18940.hp1
NA18948.hp1
NA18952.hp2
NA18954.hp2
NA18968.hp1
NA18970.hp2
NA19000.hp1
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19043.hp1
NA19058.hp1
NA19077.hp2
NA19091.hp2
NA20752.hp2
 intron_variant MODIFIER c.56-8035C>T
c.56-8035C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965707
chr14:104965737 A
A
 G
G
 1 a0073c0171t0002g0140
a0073c0171t0002g0140
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.56-8065T>C
c.56-8065T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965737
chr14:104965884 A
A
 G
G
 1 a0055c0205t0002g0069
a0055c0205t0002g0069
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.56-8212T>C
c.56-8212T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965884
chr14:104965942 C
C
 A
A
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.56-8270G>T
c.56-8270G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965942
chr14:104965972 C
C
 T
T
 1 a0123c0233t0002g0299
a0123c0233t0002g0299
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.56-8300G>A
c.56-8300G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104965972
chr14:104966033 T
T
 C
C
 188 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(185): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0112t0008g0034
a0005c0013t0001g0202
a0005c0067t0001g0129
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0011c0012t0002g0006
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0025c0052t0002g0014
a0025c0248t0002g0063
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0053c0246t0002g0074
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0104c0212t0002g0259
a0105c0211t0002g0061
a0106c0070t0001g0184
a0107c0234t0002g0252
a0108c0218t0002g0303
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0144c0238t0003g0070
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0190c0151t0001g0168
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 222 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(219): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-8361A>G
c.56-8361A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966033
chr14:104966065 C
C
 T
T
 16 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(13): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 18 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(15): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-8393G>A
c.56-8393G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966065
chr14:104966161 G
G
 T
T
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-8489C>A
c.56-8489C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966161
chr14:104966212 C
C
 T
T
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-8540G>A
c.56-8540G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966212
chr14:104966229 G
G
 A
A
 87 a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
others(84): Show 
a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0042c0026t0001g0021
a0043c0040t0001g0172
a0043c0040t0001g0191
a0053c0246t0002g0074
a0054c0059t0001g0119
a0065c0203t0002g0201
a0066c0202t0005g0203
a0069c0184t0002g0209
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0190c0151t0001g0168
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 104 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(101): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01346.hp1
HG01496.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03471.hp1
HG03492.hp2
HG03540.hp2
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
NA18522.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.56-8557C>T
c.56-8557C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966229
chr14:104966502 C
C
 A
A
 1 a0087c0187t0002g0208
a0087c0187t0002g0208
 1 HG02273.hp1
HG02273.hp1
 intron_variant MODIFIER c.56-8830G>T
c.56-8830G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966502
chr14:104966567 C
C
 T
T
 1 a0157c0080t0003g0121
a0157c0080t0003g0121
 1 HG03486.hp2
HG03486.hp2
 intron_variant MODIFIER c.56-8895G>A
c.56-8895G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966567
chr14:104966578 C
C
 T
T
 1 a0037c0029t0001g0079
a0037c0029t0001g0079
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.56-8906G>A
c.56-8906G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966578
chr14:104966584 C
C
 T
T
 1 a0108c0218t0002g0303
a0108c0218t0002g0303
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.56-8912G>A
c.56-8912G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966584
chr14:104966661 C
C
 A
A
 1 a0003c0008t0001g0120
a0003c0008t0001g0120
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.56-8989G>T
c.56-8989G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966661
chr14:104966662 A
A
 G
G
 1 a0003c0008t0001g0120
a0003c0008t0001g0120
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.56-8990T>C
c.56-8990T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966662
chr14:104966792 A
A
 G
G
 73 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(70): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0005c0067t0001g0129
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
 91 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(88): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02723.hp1
HG02738.hp1
HG02896.hp2
HG02897.hp1
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.56-9120T>C
c.56-9120T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104966792
chr14:104967068 A
A
 G
G
 11 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(8): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0085c0172t0002g0296
a0161c0079t0012g0141
 11 HG01099.hp2
HG01255.hp2
HG01884.hp2
others(8): Show 
HG01099.hp2
HG01255.hp2
HG01884.hp2
HG02257.hp1
HG02717.hp1
HG02717.hp2
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-9396T>C
c.56-9396T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967068
chr14:104967085 T
T
 C
C
 21 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(18): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 23 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(20): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01884.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-9413A>G
c.56-9413A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967085
chr14:104967104 C
C
 T
T
 1 a0151c0145t0001g0165
a0151c0145t0001g0165
 1 NA18950.hp2
NA18950.hp2
 intron_variant MODIFIER c.56-9432G>A
c.56-9432G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967104
chr14:104967173 C
C
 G
G
 4 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(1): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.56-9501G>C
c.56-9501G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967173
chr14:104967274 T
T
 C
C
 21 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(18): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 23 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(20): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01884.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-9602A>G
c.56-9602A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967274
chr14:104967361 G
G
 A
A
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-9689C>T
c.56-9689C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967361
chr14:104967370 G
G
 A
A
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-9698C>T
c.56-9698C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967370
chr14:104967442 G
G
 A
A
 21 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(18): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 23 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(20): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01884.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.56-9770C>T
c.56-9770C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967442
chr14:104967446 C
C
 T
T
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.56-9774G>A
c.56-9774G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967446
chr14:104967461 T
T
 A
A
 1 a0079c0183t0003g0164
a0079c0183t0003g0164
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.56-9789A>T
c.56-9789A>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967461
chr14:104967462 C
C
 T
T
 1 a0079c0183t0003g0164
a0079c0183t0003g0164
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.56-9790G>A
c.56-9790G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967462
chr14:104967494 G
G
 A
A
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-9822C>T
c.56-9822C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967494
chr14:104967575 C
C
 T
T
 2 a0167c0101t0001g0235
a0168c0102t0001g0236
a0167c0101t0001g0235
a0168c0102t0001g0236
 2 HG01109.hp1
HG01928.hp2
HG01109.hp1
HG01928.hp2
 intron_variant MODIFIER c.56-9903G>A
c.56-9903G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967575
chr14:104967610 C
C
 A
A
 5 a0032c0050t0003g0136
a0032c0050t0003g0145
a0125c0242t0003g0137
others(2): Show 
a0032c0050t0003g0136
a0032c0050t0003g0145
a0125c0242t0003g0137
a0127c0241t0003g0138
a0128c0239t0003g0135
 5 HG02559.hp2
HG02615.hp1
HG02622.hp1
others(2): Show 
HG02559.hp2
HG02615.hp1
HG02622.hp1
HG06807.hp2
NA18522.hp1
 intron_variant MODIFIER c.56-9938G>T
c.56-9938G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967610
chr14:104967720 T
T
 C
C
 126 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(123): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0220t0002g0263
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0068c0169t0002g0071
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0190c0151t0001g0168
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 144 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(141): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.56-10048A>G
c.56-10048A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967720
chr14:104967791 G
G
 A
A
 1 a0004c0005t0004g0043
a0004c0005t0004g0043
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.56-10119C>T
c.56-10119C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967791
chr14:104967955 G
G
 C
C
 26 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(23): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0196c0207t0002g0153
 28 HG00438.hp2
HG00558.hp1
HG00639.hp1
others(25): Show 
HG00438.hp2
HG00558.hp1
HG00639.hp1
HG01099.hp1
HG01168.hp2
HG01884.hp2
HG02486.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG02976.hp1
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19030.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA20300.hp2
 intron_variant MODIFIER c.55+10228C>G
c.55+10228C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967955
chr14:104967964 T
T
 G
G
 1 a0003c0008t0001g0120
a0003c0008t0001g0120
 1 NA19058.hp1
NA19058.hp1
 intron_variant MODIFIER c.55+10219A>C
c.55+10219A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104967964
chr14:104968019 T
T
 A
A
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.55+10164A>T
c.55+10164A>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968019
chr14:104968020 T
T
 C
C
 9 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(6): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 9 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(6): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp2
 intron_variant MODIFIER c.55+10163A>G
c.55+10163A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968020
chr14:104968220 G
G
 A
A
 1 a0007c0004t0001g0243
a0007c0004t0001g0243
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.55+9963C>T
c.55+9963C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968220
chr14:104968233 C
C
 T
T
 1 a0006c0006t0002g0163
a0006c0006t0002g0163
 1 NA18941.hp2
NA18941.hp2
 intron_variant MODIFIER c.55+9950G>A
c.55+9950G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968233
chr14:104968309 TGCCTCCC
others(19): Show 
TGCCTCCCCGAGAACTGGACTATCCTG
 T
T
 10 a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
others(7): Show 
a0026c0042t0002g0295
a0045c0024t0001g0142
a0045c0024t0001g0143
a0069c0184t0002g0209
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0161c0079t0012g0141
 10 HG01099.hp2
HG01255.hp2
HG02257.hp1
others(7): Show 
HG01099.hp2
HG01255.hp2
HG02257.hp1
HG02717.hp1
HG03041.hp2
HG03139.hp1
HG03516.hp2
NA18906.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55+9848_55+9873del
others(26): Show 
c.55+9848_55+9873delCAGGATAGTCCAGTTCTCGGGGAGGC
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968309
chr14:104968319 A
A
 C
C
 1 a0192c0137t0001g0078
a0192c0137t0001g0078
 1 HG02015.hp1
HG02015.hp1
 intron_variant MODIFIER c.55+9864T>G
c.55+9864T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968319
chr14:104968442 C
C
 T
T
 92 a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
others(89): Show 
a0002c0112t0008g0034
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0053c0246t0002g0074
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 108 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(105): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02738.hp2
HG02809.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18980.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
 intron_variant MODIFIER c.55+9741G>A
c.55+9741G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968442
chr14:104968447 A
A
 T
T
 1 a0114c0225t0002g0234
a0114c0225t0002g0234
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.55+9736T>A
c.55+9736T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968447
chr14:104968559 G
G
 A
A
 14 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(11): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0067c0058t0002g0302
 16 HG00438.hp2
HG00558.hp1
HG02698.hp2
others(13): Show 
HG00438.hp2
HG00558.hp1
HG02698.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+9624C>T
c.55+9624C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968559
chr14:104968690 C
C
 T
T
 1 a0017c0015t0002g0162
a0017c0015t0002g0162
 1 HG02080.hp2
HG02080.hp2
 intron_variant MODIFIER c.55+9493G>A
c.55+9493G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968690
chr14:104968834 C
C
 T
T
 1 a0084c0181t0002g0159
a0084c0181t0002g0159
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.55+9349G>A
c.55+9349G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968834
chr14:104968842 T
T
 C
C
 1 a0032c0050t0003g0145
a0032c0050t0003g0145
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.55+9341A>G
c.55+9341A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968842
chr14:104968903 C
C
 T
T
 1 a0064c0165t0001g0247
a0064c0165t0001g0247
 1 HG03130.hp1
HG03130.hp1
 intron_variant MODIFIER c.55+9280G>A
c.55+9280G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968903
chr14:104968982 C
C
 G
G
 1 a0070c0170t0002g0246
a0070c0170t0002g0246
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.55+9201G>C
c.55+9201G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104968982
chr14:104969057 C
C
 T
T
 21 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(18): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0028c0019t0009g0049
a0028c0019t0009g0050
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 23 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(20): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG01884.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02896.hp1
HG02897.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19030.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+9126G>A
c.55+9126G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969057
chr14:104969076 C
C
 A
A
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+9107G>T
c.55+9107G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969076
chr14:104969261 G
G
 A
A
 1 a0196c0207t0002g0153
a0196c0207t0002g0153
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.55+8922C>T
c.55+8922C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969261
chr14:104969282 C
C
 T
T
 4 a0034c0048t0003g0023
a0051c0051t0001g0024
a0132c0236t0003g0147
others(1): Show 
a0034c0048t0003g0023
a0051c0051t0001g0024
a0132c0236t0003g0147
a0195c0243t0003g0148
 6 HG01167.hp1
HG01169.hp1
HG03098.hp2
others(3): Show 
HG01167.hp1
HG01169.hp1
HG03098.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.55+8901G>A
c.55+8901G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969282
chr14:104969312 A
A
 G
G
 209 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(206): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0005c0027t0001g0266
a0005c0067t0001g0129
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0011c0012t0002g0006
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0025c0052t0002g0014
a0025c0248t0002g0063
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0048c0034t0001g0054
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0068c0169t0002g0071
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0104c0212t0002g0259
a0105c0211t0002g0061
a0106c0070t0001g0184
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0144c0238t0003g0070
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0172c0124t0001g0225
a0190c0151t0001g0168
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0209c0054t0003g0134
a0211c0247t0002g0206
 245 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(242): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+8871T>C
c.55+8871T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969312
chr14:104969457 A
A
 G
G
 2 a0023c0021t0001g0221
a0023c0072t0001g0220
a0023c0021t0001g0221
a0023c0072t0001g0220
 2 HG02132.hp2
NA18747.hp2
HG02132.hp2
NA18747.hp2
 intron_variant MODIFIER c.55+8726T>C
c.55+8726T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969457
chr14:104969620 A
A
 G
G
 1 a0048c0034t0001g0054
a0048c0034t0001g0054
 1 HG01123.hp2
HG01123.hp2
 intron_variant MODIFIER c.55+8563T>C
c.55+8563T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969620
chr14:104969658 G
G
 T
T
 1 a0103c0065t0003g0156
a0103c0065t0003g0156
 1 NA20300.hp2
NA20300.hp2
 intron_variant MODIFIER c.55+8525C>A
c.55+8525C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969658
chr14:104969787 C
C
 T
T
 1 a0197c0057t0001g0068
a0197c0057t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.55+8396G>A
c.55+8396G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969787
chr14:104969817 C
C
 G
G
 1 a0108c0218t0002g0303
a0108c0218t0002g0303
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.55+8366G>C
c.55+8366G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969817
chr14:104969845 C
C
 T
T
 3 a0033c0022t0001g0285
a0033c0022t0001g0287
a0202c0068t0001g0286
a0033c0022t0001g0285
a0033c0022t0001g0287
a0202c0068t0001g0286
 3 HG02074.hp1
NA19009.hp2
NA19090.hp1
HG02074.hp1
NA19009.hp2
NA19090.hp1
 intron_variant MODIFIER c.55+8338G>A
c.55+8338G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969845
chr14:104969885 A
A
 G
G
 126 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(123): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0045c0024t0001g0142
a0045c0024t0001g0143
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 144 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(141): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01099.hp2
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01255.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
NA20129.hp2
 intron_variant MODIFIER c.55+8298T>C
c.55+8298T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104969885
chr14:104970005 A
A
 G
G
 1 a0129c0133t0001g0052
a0129c0133t0001g0052
 1 HG01517.hp1
HG01517.hp1
 intron_variant MODIFIER c.55+8178T>C
c.55+8178T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970005
chr14:104970007 G
G
 A
A
 1 a0068c0169t0002g0071
a0068c0169t0002g0071
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.55+8176C>T
c.55+8176C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970007
chr14:104970008 G
G
 A
A
 3 a0004c0005t0004g0010
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0010
a0004c0005t0004g0040
a0004c0005t0004g0041
 4 NA18956.hp2
NA19005.hp2
NA19070.hp2
others(1): Show 
NA18956.hp2
NA19005.hp2
NA19070.hp2
NA19074.hp2
 intron_variant MODIFIER c.55+8175C>T
c.55+8175C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970008
chr14:104970072 C
C
 T
T
 9 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(6): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0056c0159t0004g0042
 11 HG00438.hp2
HG00558.hp1
HG02698.hp2
others(8): Show 
HG00438.hp2
HG00558.hp1
HG02698.hp2
HG03710.hp2
NA18612.hp2
NA18956.hp2
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+8111G>A
c.55+8111G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970072
chr14:104970317 G
G
 A
A
 1 a0007c0004t0001g0244
a0007c0004t0001g0244
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.55+7866C>T
c.55+7866C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970317
chr14:104970334 C
C
 T
T
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+7849G>A
c.55+7849G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970334
chr14:104970378 G
G
 C
C
 1 a0169c0237t0003g0139
a0169c0237t0003g0139
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.55+7805C>G
c.55+7805C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970378
chr14:104970433 A
A
 G
G
 6 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(3): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0068c0169t0002g0071
a0075c0164t0001g0301
a0076c0163t0001g0300
 6 HG01884.hp2
HG02630.hp1
HG02717.hp2
others(3): Show 
HG01884.hp2
HG02630.hp1
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+7750T>C
c.55+7750T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970433
chr14:104970494 C
C
 T
T
 112 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(109): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0068c0169t0002g0071
a0069c0184t0002g0209
a0070c0170t0002g0246
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0154c0148t0001g0265
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0197c0057t0001g0068
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 130 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(127): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02630.hp1
HG02698.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02922.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19091.hp1
NA20129.hp1
 intron_variant MODIFIER c.55+7689G>A
c.55+7689G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970494
chr14:104970545 C
C
 T
T
 1 a0173c0114t0002g0288
a0173c0114t0002g0288
 1 NA18999.hp2
NA18999.hp2
 intron_variant MODIFIER c.55+7638G>A
c.55+7638G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970545
chr14:104970567 G
G
 A
A
 4 a0001c0003t0002g0264
a0075c0164t0001g0301
a0076c0163t0001g0300
others(1): Show 
a0001c0003t0002g0264
a0075c0164t0001g0301
a0076c0163t0001g0300
a0207c0206t0002g0223
 4 HG00323.hp1
HG01884.hp2
HG02717.hp2
others(1): Show 
HG00323.hp1
HG01884.hp2
HG02717.hp2
HG03492.hp2
 intron_variant MODIFIER c.55+7616C>T
c.55+7616C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970567
chr14:104970720 A
A
 C
C
 80 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(77): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0025c0052t0002g0014
a0025c0248t0002g0063
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0048c0034t0001g0054
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0129c0133t0001g0052
a0131c0235t0003g0132
a0132c0236t0003g0147
a0144c0238t0003g0070
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0176c0135t0001g0077
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
a0209c0054t0003g0134
 98 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(95): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02622.hp1
HG02698.hp1
HG02717.hp2
HG02723.hp1
HG02738.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG03098.hp2
HG03225.hp1
HG03225.hp2
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03540.hp1
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+7463T>G
c.55+7463T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970720
chr14:104970940 T
T
 C
C
 9 a0039c0028t0001g0214
a0039c0028t0014g0215
a0041c0083t0001g0216
others(6): Show 
a0039c0028t0001g0214
a0039c0028t0014g0215
a0041c0083t0001g0216
a0041c0099t0001g0217
a0134c0096t0001g0218
a0135c0076t0001g0213
a0140c0093t0001g0210
a0142c0085t0001g0212
a0155c0084t0001g0211
 9 HG01074.hp1
HG01192.hp2
HG01256.hp2
others(6): Show 
HG01074.hp1
HG01192.hp2
HG01256.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02074.hp2
NA18950.hp1
 intron_variant MODIFIER c.55+7243A>G
c.55+7243A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104970940
chr14:104971178 G
G
 A
A
 1 a0026c0042t0002g0124
a0026c0042t0002g0124
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.55+7005C>T
c.55+7005C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971178
chr14:104971185 G
G
 T
T
 7 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(4): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
 9 HG00438.hp2
HG00558.hp1
NA18612.hp2
others(6): Show 
HG00438.hp2
HG00558.hp1
NA18612.hp2
NA18956.hp2
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+6998C>A
c.55+6998C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971185
chr14:104971262 C
C
 T
T
 1 a0170c0105t0002g0076
a0170c0105t0002g0076
 1 HG02273.hp2
HG02273.hp2
 intron_variant MODIFIER c.55+6921G>A
c.55+6921G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971262
chr14:104971350 G
G
 C
C
 3 a0124c0071t0001g0123
a0157c0080t0003g0121
a0163c0098t0001g0122
a0124c0071t0001g0123
a0157c0080t0003g0121
a0163c0098t0001g0122
 3 HG03453.hp2
HG03486.hp2
NA19043.hp1
HG03453.hp2
HG03486.hp2
NA19043.hp1
 intron_variant MODIFIER c.55+6833C>G
c.55+6833C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971350
chr14:104971389 G
G
 A
A
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.55+6794C>T
c.55+6794C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971389
chr14:104971562 T
T
 A
A
 3 a0033c0022t0001g0285
a0033c0022t0001g0287
a0202c0068t0001g0286
a0033c0022t0001g0285
a0033c0022t0001g0287
a0202c0068t0001g0286
 3 HG02074.hp1
NA19009.hp2
NA19090.hp1
HG02074.hp1
NA19009.hp2
NA19090.hp1
 intron_variant MODIFIER c.55+6621A>T
c.55+6621A>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971562
chr14:104971787 C
C
 A
A
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+6396G>T
c.55+6396G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971787
chr14:104971799 T
T
 G
G
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+6384A>C
c.55+6384A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971799
chr14:104971865 A
A
 G
G
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+6318T>C
c.55+6318T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971865
chr14:104971906 G
G
 A
A
 1 a0026c0042t0002g0124
a0026c0042t0002g0124
 1 HG02258.hp1
HG02258.hp1
 intron_variant MODIFIER c.55+6277C>T
c.55+6277C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971906
chr14:104971964 C
C
 T
T
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+6219G>A
c.55+6219G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971964
chr14:104971966 G
G
 C
C
 1 a0010c0011t0002g0219
a0010c0011t0002g0219
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.55+6217C>G
c.55+6217C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104971966
chr14:104972014 G
G
 A
A
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.55+6169C>T
c.55+6169C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972014
chr14:104972127 G
G
 A
A
 1 a0197c0057t0001g0068
a0197c0057t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.55+6056C>T
c.55+6056C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972127
chr14:104972174 G
G
 T
T
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+6009C>A
c.55+6009C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972174
chr14:104972209 C
C
 G
G
 1 a0012c0039t0001g0161
a0012c0039t0001g0161
 1 NA18983.hp1
NA18983.hp1
 intron_variant MODIFIER c.55+5974G>C
c.55+5974G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972209
chr14:104972212 T
T
 C
C
 3 a0003c0033t0001g0022
a0003c0115t0001g0125
a0003c0117t0001g0126
a0003c0033t0001g0022
a0003c0115t0001g0125
a0003c0117t0001g0126
 4 NA18952.hp2
NA18970.hp2
NA19010.hp1
others(1): Show 
NA18952.hp2
NA18970.hp2
NA19010.hp1
NA19077.hp2
 intron_variant MODIFIER c.55+5971A>G
c.55+5971A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972212
chr14:104972303 G
G
 A
A
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5880C>T
c.55+5880C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972303
chr14:104972428 G
G
 GC
GC
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5754dupG
c.55+5754dupG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972428
chr14:104972431 T
T
 G
G
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5752A>C
c.55+5752A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972431
chr14:104972486 C
C
 T
T
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5697G>A
c.55+5697G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972486
chr14:104972502 G
G
 A
A
 2 a0100c0062t0002g0154
a0101c0063t0002g0155
a0100c0062t0002g0154
a0101c0063t0002g0155
 2 HG00639.hp1
NA19030.hp2
HG00639.hp1
NA19030.hp2
 intron_variant MODIFIER c.55+5681C>T
c.55+5681C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972502
chr14:104972663 G
G
 C
C
 113 a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
others(110): Show 
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0053c0246t0002g0074
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0069c0184t0002g0209
a0070c0170t0002g0246
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0139c0142t0001g0127
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 131 HG00438.hp1
HG00438.hp2
HG00558.hp1
others(128): Show 
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01099.hp1
HG01167.hp2
HG01168.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01346.hp1
HG01884.hp1
HG01884.hp2
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02602.hp2
HG02698.hp2
HG02717.hp2
HG02735.hp2
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG03017.hp2
HG03098.hp1
HG03130.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03453.hp1
HG03471.hp1
HG03492.hp2
HG03540.hp2
HG03669.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
HG04228.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA20129.hp1
 intron_variant MODIFIER c.55+5520C>G
c.55+5520C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972663
chr14:104972689 C
C
 G
G
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.55+5494G>C
c.55+5494G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972689
chr14:104972694 G
G
 A
A
 16 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(13): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
 18 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(15): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG01168.hp2
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+5489C>T
c.55+5489C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972694
chr14:104972696 G
G
 A
A
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5487C>T
c.55+5487C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972696
chr14:104972742 A
A
 T
T
 3 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
 3 HG02896.hp1
HG02897.hp2
NA19030.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5441T>A
c.55+5441T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972742
chr14:104972775 C
C
 A
A
 1 a0032c0050t0003g0145
a0032c0050t0003g0145
 1 HG02622.hp1
HG02622.hp1
 intron_variant MODIFIER c.55+5408G>T
c.55+5408G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972775
chr14:104972823 A
A
 C
C
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5360T>G
c.55+5360T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972823
chr14:104972827 G
G
 A
A
 1 a0006c0006t0002g0029
a0006c0006t0002g0029
 2 NA19009.hp1
NA19065.hp1
NA19009.hp1
NA19065.hp1
 intron_variant MODIFIER c.55+5356C>T
c.55+5356C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972827
chr14:104972905 G
G
 C
C
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.55+5278C>G
c.55+5278C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972905
chr14:104972974 A
A
 AC
AC
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+5208dupG
c.55+5208dupG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104972974
chr14:104973100 G
G
 A
A
 3 a0173c0114t0002g0288
a0186c0132t0001g0290
a0187c0131t0001g0289
a0173c0114t0002g0288
a0186c0132t0001g0290
a0187c0131t0001g0289
 3 NA18961.hp2
NA18999.hp2
NA19012.hp1
NA18961.hp2
NA18999.hp2
NA19012.hp1
 intron_variant MODIFIER c.55+5083C>T
c.55+5083C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973100
chr14:104973214 G
G
 A
A
 4 a0028c0019t0009g0049
a0028c0019t0009g0050
a0055c0205t0002g0069
others(1): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0055c0205t0002g0069
a0067c0058t0002g0302
 4 HG02109.hp1
HG02896.hp1
HG02897.hp2
others(1): Show 
HG02109.hp1
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+4969C>T
c.55+4969C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973214
chr14:104973301 G
G
 A
A
 2 a0196c0207t0002g0153
a0204c0053t0001g0065
a0196c0207t0002g0153
a0204c0053t0001g0065
 2 HG02486.hp2
HG02723.hp2
HG02486.hp2
HG02723.hp2
 intron_variant MODIFIER c.55+4882C>T
c.55+4882C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973301
chr14:104973669 G
G
 A
A
 54 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(51): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0005c0067t0001g0129
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0011c0012t0002g0006
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0025c0052t0002g0014
a0025c0248t0002g0063
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0048c0034t0001g0054
a0052c0208t0002g0231
a0052c0209t0002g0232
a0104c0212t0002g0259
a0105c0211t0002g0061
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0113c0216t0002g0058
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0129c0133t0001g0052
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
 70 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(67): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp2
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02015.hp2
HG02083.hp2
HG02129.hp1
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02602.hp1
HG02698.hp1
HG02738.hp1
HG03491.hp1
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04184.hp1
HG04228.hp2
NA18940.hp2
NA18953.hp1
NA19002.hp1
NA19004.hp2
NA19043.hp2
NA19055.hp2
NA19084.hp2
NA19088.hp2
NA19090.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+4514C>T
c.55+4514C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973669
chr14:104973707 T
T
 C
C
 8 a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
others(5): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0061c0166t0002g0293
a0062c0167t0002g0230
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 8 HG01884.hp1
HG01884.hp2
HG02717.hp2
others(5): Show 
HG01884.hp1
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
HG03139.hp2
HG03453.hp1
NA19030.hp1
 intron_variant MODIFIER c.55+4476A>G
c.55+4476A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973707
chr14:104973726 G
G
 T
T
 11 a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
others(8): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0055c0205t0002g0069
a0061c0166t0002g0293
a0062c0167t0002g0230
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0098c0204t0002g0292
a0197c0057t0001g0068
 11 HG01884.hp1
HG01884.hp2
HG02109.hp1
others(8): Show 
HG01884.hp1
HG01884.hp2
HG02109.hp1
HG02717.hp2
HG02809.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03139.hp2
HG03453.hp1
NA19030.hp1
 intron_variant MODIFIER c.55+4457C>A
c.55+4457C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973726
chr14:104973803 C
C
 T
T
 1 a0193c0138t0001g0075
a0193c0138t0001g0075
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.55+4380G>A
c.55+4380G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973803
chr14:104973887 C
C
 T
T
 2 a0055c0205t0002g0069
a0197c0057t0001g0068
a0055c0205t0002g0069
a0197c0057t0001g0068
 2 HG02109.hp1
HG02922.hp2
HG02109.hp1
HG02922.hp2
 intron_variant MODIFIER c.55+4296G>A
c.55+4296G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973887
chr14:104973887 CGGAGG
CGGAGG
 C
C
 3 a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
 3 HG02132.hp2
HG02155.hp2
NA18747.hp2
HG02132.hp2
HG02155.hp2
NA18747.hp2
 intron_variant MODIFIER c.55+4291_55+4295del
others(5): Show 
c.55+4291_55+4295delCCTCC
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973887
chr14:104973888 G
G
 A
A
 8 a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
others(5): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0037c0029t0001g0294
a0061c0166t0002g0293
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0126c0240t0003g0146
 8 HG01884.hp1
HG01884.hp2
HG02717.hp2
others(5): Show 
HG01884.hp1
HG01884.hp2
HG02717.hp2
HG02723.hp1
HG02896.hp1
HG02897.hp2
HG03139.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+4295C>T
c.55+4295C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973888
chr14:104973904 C
C
 T
T
 2 a0016c0041t0006g0036
a0060c0162t0006g0035
a0016c0041t0006g0036
a0060c0162t0006g0035
 2 HG02735.hp2
HG04228.hp1
HG02735.hp2
HG04228.hp1
 intron_variant MODIFIER c.55+4279G>A
c.55+4279G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973904
chr14:104973943 C
C
 T
T
 1 a0004c0005t0004g0010
a0004c0005t0004g0010
 2 NA19005.hp2
NA19070.hp2
NA19005.hp2
NA19070.hp2
 intron_variant MODIFIER c.55+4240G>A
c.55+4240G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104973943
chr14:104974078 G
G
 A
A
 1 a0007c0004t0001g0245
a0007c0004t0001g0245
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.55+4105C>T
c.55+4105C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974078
chr14:104974173 G
G
 A
A
 1 a0003c0008t0001g0130
a0003c0008t0001g0130
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.55+4010C>T
c.55+4010C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974173
chr14:104974356 G
G
 A
A
 1 a0207c0206t0002g0223
a0207c0206t0002g0223
 1 HG03492.hp2
HG03492.hp2
 intron_variant MODIFIER c.55+3827C>T
c.55+3827C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974356
chr14:104974447 A
A
 C
C
 204 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(201): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0003t0002g0264
a0001c0045t0002g0013
a0002c0002t0001g0048
a0002c0112t0008g0034
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0008c0007t0008g0037
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0011c0012t0002g0006
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0021c0219t0002g0260
a0021c0220t0002g0263
a0021c0244t0002g0261
a0022c0044t0002g0057
a0022c0044t0002g0059
a0022c0215t0002g0224
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0025c0052t0002g0014
a0025c0248t0002g0063
a0026c0042t0002g0295
a0027c0189t0002g0227
a0027c0190t0002g0228
a0028c0019t0009g0049
a0028c0019t0009g0050
a0029c0047t0002g0031
a0030c0223t0007g0255
a0030c0226t0007g0256
a0031c0046t0002g0250
a0031c0046t0002g0257
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0037c0029t0001g0294
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0048c0034t0001g0054
a0051c0051t0001g0024
a0052c0208t0002g0231
a0052c0209t0002g0232
a0053c0246t0002g0074
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0060c0162t0006g0035
a0061c0166t0002g0293
a0062c0167t0002g0230
a0063c0168t0001g0248
a0064c0165t0001g0247
a0065c0203t0002g0201
a0066c0202t0005g0203
a0067c0058t0002g0302
a0068c0169t0002g0071
a0069c0184t0002g0209
a0070c0170t0002g0246
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0075c0164t0001g0301
a0076c0163t0001g0300
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0082c0174t0003g0072
a0083c0176t0003g0073
a0084c0181t0002g0159
a0085c0172t0002g0296
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0098c0204t0002g0292
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0104c0212t0002g0259
a0105c0211t0002g0061
a0106c0070t0001g0184
a0107c0234t0002g0252
a0109c0222t0007g0254
a0110c0221t0002g0253
a0111c0232t0002g0066
a0112c0227t0007g0207
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0116c0229t0002g0233
a0117c0224t0002g0249
a0118c0230t0002g0262
a0119c0228t0002g0258
a0120c0214t0002g0062
a0121c0231t0002g0251
a0122c0213t0015g0304
a0123c0233t0002g0299
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0140c0093t0001g0210
a0142c0085t0001g0212
a0144c0238t0003g0070
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0161c0079t0012g0141
a0164c0139t0001g0185
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
a0169c0237t0003g0139
a0172c0124t0001g0225
a0190c0151t0001g0168
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0199c0069t0001g0226
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0206c0066t0001g0183
a0207c0206t0002g0223
a0209c0054t0003g0134
a0211c0247t0002g0206
 240 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(237): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00438.hp1
HG00438.hp2
HG00558.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00673.hp2
HG00733.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01192.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01346.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02015.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02165.hp2
HG02257.hp1
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02559.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03130.hp1
HG03139.hp1
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03471.hp1
HG03486.hp1
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04184.hp1
HG04184.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18952.hp1
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18977.hp2
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19070.hp2
NA19074.hp1
NA19074.hp2
NA19076.hp1
NA19076.hp2
NA19077.hp1
NA19079.hp2
NA19081.hp1
NA19081.hp2
NA19084.hp2
NA19085.hp2
NA19088.hp2
NA19090.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp2
NA20752.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+3736T>G
c.55+3736T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974447
chr14:104974527 G
G
 A
A
 4 a0034c0048t0003g0023
a0051c0051t0001g0024
a0132c0236t0003g0147
others(1): Show 
a0034c0048t0003g0023
a0051c0051t0001g0024
a0132c0236t0003g0147
a0195c0243t0003g0148
 6 HG01167.hp1
HG01169.hp1
HG03098.hp2
others(3): Show 
HG01167.hp1
HG01169.hp1
HG03098.hp2
HG03225.hp1
HG03540.hp1
NA18906.hp2
 intron_variant MODIFIER c.55+3656C>T
c.55+3656C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974527
chr14:104974605 A
A
 T
T
 1 a0199c0069t0001g0226
a0199c0069t0001g0226
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.55+3578T>A
c.55+3578T>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974605
chr14:104974712 G
G
 A
A
 15 a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
others(12): Show 
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0008c0007t0008g0037
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0060c0162t0006g0035
 17 HG00438.hp2
HG00558.hp1
HG01099.hp1
others(14): Show 
HG00438.hp2
HG00558.hp1
HG01099.hp1
HG02698.hp2
HG02735.hp2
HG03710.hp2
HG03834.hp1
HG04228.hp1
NA18612.hp2
NA18951.hp1
NA18956.hp2
NA18970.hp1
NA18981.hp1
NA19005.hp2
NA19070.hp2
NA19074.hp2
NA19076.hp1
 intron_variant MODIFIER c.55+3471C>T
c.55+3471C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974712
chr14:104974725 G
G
 A
A
 1 a0203c0210t0003g0149
a0203c0210t0003g0149
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.55+3458C>T
c.55+3458C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974725
chr14:104974823 T
T
 C
C
 2 a0057c0156t0010g0046
a0058c0155t0004g0047
a0057c0156t0010g0046
a0058c0155t0004g0047
 2 NA18951.hp1
NA18970.hp1
NA18951.hp1
NA18970.hp1
 intron_variant MODIFIER c.55+3360A>G
c.55+3360A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104974823
chr14:104975032 G
G
 A
A
 1 a0185c0126t0001g0291
a0185c0126t0001g0291
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.55+3151C>T
c.55+3151C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975032
chr14:104975064 C
C
 T
T
 1 a0084c0181t0002g0159
a0084c0181t0002g0159
 1 HG01175.hp2
HG01175.hp2
 intron_variant MODIFIER c.55+3119G>A
c.55+3119G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975064
chr14:104975157 G
G
 A
A
 7 a0037c0029t0001g0294
a0061c0166t0002g0293
a0062c0167t0002g0230
others(4): Show 
a0037c0029t0001g0294
a0061c0166t0002g0293
a0062c0167t0002g0230
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0098c0204t0002g0292
 7 HG01884.hp1
HG01884.hp2
HG02717.hp2
others(4): Show 
HG01884.hp1
HG01884.hp2
HG02717.hp2
HG02809.hp2
HG03139.hp2
HG03453.hp1
NA19030.hp1
 intron_variant MODIFIER c.55+3026C>T
c.55+3026C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975157
chr14:104975177 C
C
 G
G
 2 a0100c0062t0002g0154
a0101c0063t0002g0155
a0100c0062t0002g0154
a0101c0063t0002g0155
 2 HG00639.hp1
NA19030.hp2
HG00639.hp1
NA19030.hp2
 intron_variant MODIFIER c.55+3006G>C
c.55+3006G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975177
chr14:104975197 C
C
 T
T
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.55+2986G>A
c.55+2986G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975197
chr14:104975209 G
G
 A
A
 2 a0022c0215t0002g0224
a0172c0124t0001g0225
a0022c0215t0002g0224
a0172c0124t0001g0225
 2 HG03654.hp1
HG03669.hp1
HG03654.hp1
HG03669.hp1
 intron_variant MODIFIER c.55+2974C>T
c.55+2974C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975209
chr14:104975398 C
C
 A
A
 1 a0199c0069t0001g0226
a0199c0069t0001g0226
 1 NA18956.hp1
NA18956.hp1
 intron_variant MODIFIER c.55+2785G>T
c.55+2785G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975398
chr14:104975450 G
G
 C
C
 1 a0203c0210t0003g0149
a0203c0210t0003g0149
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.55+2733C>G
c.55+2733C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975450
chr14:104975488 GCCT
GCCT
 G
G
 26 a0026c0042t0002g0295
a0032c0050t0003g0136
a0032c0050t0003g0145
others(23): Show 
a0026c0042t0002g0295
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0051c0051t0001g0024
a0071c0177t0002g0144
a0072c0178t0002g0298
a0073c0171t0002g0140
a0074c0179t0003g0297
a0085c0172t0002g0296
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0131c0235t0003g0132
a0132c0236t0003g0147
a0161c0079t0012g0141
a0169c0237t0003g0139
a0195c0243t0003g0148
a0203c0210t0003g0149
a0205c0245t0002g0067
a0209c0054t0003g0134
 28 HG00733.hp1
HG01099.hp2
HG01167.hp1
others(25): Show 
HG00733.hp1
HG01099.hp2
HG01167.hp1
HG01169.hp1
HG01255.hp2
HG02257.hp1
HG02258.hp2
HG02451.hp2
HG02559.hp2
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02717.hp1
HG02723.hp1
HG02896.hp2
HG02897.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03225.hp1
HG03225.hp2
HG03516.hp2
HG03540.hp1
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18906.hp2
NA20129.hp2
 intron_variant MODIFIER c.55+2692_55+2694del
others(3): Show 
c.55+2692_55+2694delAGG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975488
chr14:104975718 T
T
 C
C
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.55+2465A>G
c.55+2465A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975718
chr14:104975937 C
C
 G
G
 1 a0197c0057t0001g0068
a0197c0057t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.55+2246G>C
c.55+2246G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975937
chr14:104975964 C
C
 T
T
 2 a0075c0164t0001g0301
a0076c0163t0001g0300
a0075c0164t0001g0301
a0076c0163t0001g0300
 2 HG01884.hp2
HG02717.hp2
HG01884.hp2
HG02717.hp2
 intron_variant MODIFIER c.55+2219G>A
c.55+2219G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975964
chr14:104975977 G
G
 C
C
 3 a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 3 HG01884.hp2
HG02717.hp2
NA19030.hp1
HG01884.hp2
HG02717.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+2206C>G
c.55+2206C>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104975977
chr14:104976006 C
C
 A
A
 1 a0123c0233t0002g0299
a0123c0233t0002g0299
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.55+2177G>T
c.55+2177G>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976006
chr14:104976080 A
A
 G
G
 3 a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 3 HG01884.hp2
HG02717.hp2
NA19030.hp1
HG01884.hp2
HG02717.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+2103T>C
c.55+2103T>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976080
chr14:104976254 G
G
 T
T
 1 a0197c0057t0001g0068
a0197c0057t0001g0068
 1 HG02922.hp2
HG02922.hp2
 intron_variant MODIFIER c.55+1929C>A
c.55+1929C>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976254
chr14:104976260 T
T
 G
G
 4 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(1): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
 4 HG00639.hp1
HG02976.hp1
NA19030.hp2
others(1): Show 
HG00639.hp1
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.55+1923A>C
c.55+1923A>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976260
chr14:104976573 G
G
 A
A
 3 a0005c0091t0001g0150
a0048c0034t0011g0151
a0175c0116t0001g0152
a0005c0091t0001g0150
a0048c0034t0011g0151
a0175c0116t0001g0152
 3 HG00733.hp2
HG01934.hp2
HG02109.hp2
HG00733.hp2
HG01934.hp2
HG02109.hp2
 intron_variant MODIFIER c.55+1610C>T
c.55+1610C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976573
chr14:104976616 C
C
 T
T
 1 a0205c0245t0002g0067
a0205c0245t0002g0067
 1 HG00733.hp1
HG00733.hp1
 intron_variant MODIFIER c.55+1567G>A
c.55+1567G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976616
chr14:104976643 G
G
 A
A
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.55+1540C>T
c.55+1540C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976643
chr14:104976754 G
G
 A
A
 5 a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
others(2): Show 
a0028c0019t0009g0049
a0028c0019t0009g0050
a0067c0058t0002g0302
a0075c0164t0001g0301
a0076c0163t0001g0300
 5 HG01884.hp2
HG02717.hp2
HG02896.hp1
others(2): Show 
HG01884.hp2
HG02717.hp2
HG02896.hp1
HG02897.hp2
NA19030.hp1
 intron_variant MODIFIER c.55+1429C>T
c.55+1429C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976754
chr14:104976799 G
G
 GCTGT
GCTGT
 30 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(27): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0045t0002g0013
a0007c0004t0001g0237
a0007c0004t0001g0238
a0007c0004t0001g0242
a0007c0004t0001g0243
a0007c0004t0001g0244
a0007c0004t0001g0245
a0007c0104t0001g0239
a0022c0044t0002g0057
a0022c0044t0002g0059
a0025c0052t0002g0014
a0025c0248t0002g0063
a0048c0034t0001g0054
a0105c0211t0002g0061
a0113c0216t0002g0058
a0114c0225t0002g0234
a0115c0217t0002g0064
a0120c0214t0002g0062
a0165c0100t0001g0240
a0166c0103t0001g0241
a0167c0101t0001g0235
a0168c0102t0001g0236
 42 HG00099.hp1
HG00099.hp2
HG00639.hp2
others(39): Show 
HG00099.hp1
HG00099.hp2
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01952.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp1
HG02083.hp2
HG02148.hp1
HG02257.hp2
HG02293.hp1
HG02293.hp2
HG02300.hp2
HG03688.hp1
HG03704.hp1
HG04184.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+1380_55+1383dup
others(4): Show 
c.55+1380_55+1383dupACAG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976799
chr14:104976888 G
G
 A
A
 2 a0027c0189t0002g0227
a0027c0190t0002g0228
a0027c0189t0002g0227
a0027c0190t0002g0228
 2 HG02027.hp2
HG02132.hp1
HG02027.hp2
HG02132.hp1
 intron_variant MODIFIER c.55+1295C>T
c.55+1295C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976888
chr14:104976999 G
G
 A
A
 5 a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
others(2): Show 
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0196c0207t0002g0153
 5 HG00639.hp1
HG02486.hp2
HG02976.hp1
others(2): Show 
HG00639.hp1
HG02486.hp2
HG02976.hp1
NA19030.hp2
NA20300.hp2
 intron_variant MODIFIER c.55+1184C>T
c.55+1184C>T
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104976999
chr14:104977065 C
C
 T
T
 1 a0156c0144t0001g0158
a0156c0144t0001g0158
 1 NA19077.hp1
NA19077.hp1
 intron_variant MODIFIER c.55+1118G>A
c.55+1118G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977065
chr14:104977069 CCAGA
CCAGA
 C
C
 3 a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
a0052c0208t0002g0231
a0052c0209t0002g0232
a0116c0229t0002g0233
 3 HG01071.hp1
HG01081.hp1
NA20905.hp1
HG01071.hp1
HG01081.hp1
NA20905.hp1
 intron_variant MODIFIER c.55+1110_55+1113del
others(4): Show 
c.55+1110_55+1113delTCTG
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977069
chr14:104977239 CT
CT
 C
C
 2 a0017c0015t0002g0030
a0096c0199t0002g0229
a0017c0015t0002g0030
a0096c0199t0002g0229
 3 HG02738.hp2
HG03927.hp2
HG04115.hp2
HG02738.hp2
HG03927.hp2
HG04115.hp2
 intron_variant MODIFIER c.55+943delA
c.55+943delA
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977239
chr14:104977315 C
C
 T
T
 1 a0062c0167t0002g0230
a0062c0167t0002g0230
 1 HG03453.hp1
HG03453.hp1
 intron_variant MODIFIER c.55+868G>A
c.55+868G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977315
chr14:104977317 C
C
 T
T
 83 a0002c0002t0001g0048
a0005c0013t0001g0202
a0006c0006t0002g0005
others(80): Show 
a0002c0002t0001g0048
a0005c0013t0001g0202
a0006c0006t0002g0005
a0006c0006t0002g0029
a0006c0006t0002g0163
a0006c0200t0002g0199
a0009c0043t0002g0173
a0009c0043t0002g0194
a0009c0185t0002g0193
a0009c0186t0002g0195
a0010c0011t0002g0176
a0010c0011t0002g0179
a0010c0011t0002g0204
a0010c0011t0002g0219
a0012c0036t0001g0026
a0012c0039t0001g0161
a0012c0039t0001g0190
a0013c0010t0001g0004
a0014c0009t0001g0025
a0014c0009t0001g0167
a0014c0009t0001g0171
a0017c0015t0002g0030
a0017c0015t0002g0162
a0018c0017t0005g0008
a0019c0016t0005g0028
a0019c0016t0005g0177
a0020c0018t0002g0009
a0022c0215t0002g0224
a0023c0021t0001g0221
a0023c0021t0001g0222
a0023c0072t0001g0220
a0027c0189t0002g0227
a0027c0190t0002g0228
a0038c0037t0001g0027
a0039c0028t0001g0214
a0039c0028t0014g0215
a0040c0038t0001g0174
a0040c0038t0001g0189
a0041c0083t0001g0216
a0041c0099t0001g0217
a0043c0040t0001g0172
a0043c0040t0001g0191
a0065c0203t0002g0201
a0066c0202t0005g0203
a0069c0184t0002g0209
a0077c0182t0003g0170
a0078c0175t0002g0192
a0079c0183t0003g0164
a0080c0180t0002g0181
a0081c0173t0002g0180
a0084c0181t0002g0159
a0086c0188t0002g0182
a0087c0187t0002g0208
a0088c0198t0002g0175
a0089c0196t0002g0198
a0090c0195t0002g0205
a0091c0193t0001g0160
a0092c0191t0001g0196
a0093c0192t0002g0197
a0094c0194t0002g0166
a0095c0197t0005g0178
a0096c0199t0002g0229
a0097c0201t0002g0200
a0106c0070t0001g0184
a0112c0227t0007g0207
a0134c0096t0001g0218
a0135c0076t0001g0213
a0136c0140t0001g0186
a0140c0093t0001g0210
a0142c0085t0001g0212
a0151c0145t0001g0165
a0152c0146t0001g0187
a0153c0147t0001g0188
a0155c0084t0001g0211
a0156c0144t0001g0158
a0158c0143t0001g0169
a0164c0139t0001g0185
a0172c0124t0001g0225
a0190c0151t0001g0168
a0199c0069t0001g0226
a0206c0066t0001g0183
a0207c0206t0002g0223
a0211c0247t0002g0206
 99 HG00438.hp1
HG00558.hp2
HG00597.hp2
others(96): Show 
HG00438.hp1
HG00558.hp2
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00673.hp2
HG01074.hp1
HG01167.hp2
HG01175.hp2
HG01192.hp2
HG01256.hp2
HG01346.hp1
HG01934.hp1
HG01981.hp2
HG01993.hp2
HG02004.hp2
HG02027.hp2
HG02040.hp2
HG02056.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02273.hp1
HG02451.hp1
HG02738.hp2
HG03017.hp2
HG03098.hp1
HG03195.hp2
HG03471.hp1
HG03492.hp2
HG03540.hp2
HG03654.hp1
HG03669.hp1
HG03704.hp2
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04184.hp2
NA18747.hp2
NA18941.hp2
NA18943.hp2
NA18945.hp1
NA18945.hp2
NA18948.hp2
NA18950.hp1
NA18950.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18959.hp1
NA18959.hp2
NA18961.hp1
NA18963.hp1
NA18964.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18977.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18986.hp1
NA18995.hp1
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp2
NA19002.hp2
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19010.hp2
NA19011.hp1
NA19012.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp1
NA19065.hp1
NA19065.hp2
NA19070.hp1
NA19074.hp1
NA19076.hp2
NA19077.hp1
NA19081.hp1
NA19081.hp2
NA19085.hp2
NA20129.hp1
 intron_variant MODIFIER c.55+866G>A
c.55+866G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977317
chr14:104977358 C
C
 T
T
 120 a0002c0112t0008g0034
a0003c0008t0001g0086
a0003c0008t0001g0100
others(117): Show 
a0002c0112t0008g0034
a0003c0008t0001g0086
a0003c0008t0001g0100
a0003c0008t0001g0120
a0003c0008t0001g0130
a0003c0033t0001g0022
a0003c0115t0001g0125
a0003c0117t0001g0126
a0003c0129t0001g0104
a0003c0134t0001g0106
a0003c0149t0001g0109
a0004c0005t0004g0010
a0004c0005t0004g0011
a0004c0005t0004g0040
a0004c0005t0004g0041
a0004c0005t0004g0043
a0004c0157t0004g0038
a0004c0158t0004g0039
a0005c0013t0001g0083
a0005c0013t0001g0095
a0005c0025t0001g0015
a0005c0067t0001g0129
a0005c0091t0001g0150
a0008c0007t0008g0037
a0015c0035t0002g0020
a0015c0122t0002g0102
a0015c0125t0002g0084
a0016c0041t0006g0036
a0016c0041t0006g0045
a0016c0160t0006g0044
a0024c0014t0001g0007
a0026c0042t0002g0124
a0032c0050t0003g0136
a0032c0050t0003g0145
a0034c0048t0003g0023
a0035c0023t0002g0017
a0036c0030t0001g0018
a0037c0029t0001g0079
a0042c0026t0001g0021
a0044c0049t0003g0131
a0044c0049t0003g0133
a0045c0024t0001g0142
a0045c0024t0001g0143
a0046c0032t0002g0019
a0048c0034t0011g0151
a0049c0118t0001g0099
a0049c0127t0001g0103
a0050c0020t0001g0016
a0051c0051t0001g0024
a0053c0246t0002g0074
a0054c0059t0001g0119
a0055c0205t0002g0069
a0056c0159t0004g0042
a0057c0156t0010g0046
a0058c0155t0004g0047
a0059c0161t0013g0128
a0060c0162t0006g0035
a0068c0169t0002g0071
a0071c0177t0002g0144
a0073c0171t0002g0140
a0082c0174t0003g0072
a0083c0176t0003g0073
a0099c0061t0001g0091
a0100c0062t0002g0154
a0101c0063t0002g0155
a0102c0064t0003g0157
a0103c0065t0003g0156
a0108c0218t0002g0303
a0124c0071t0001g0123
a0125c0242t0003g0137
a0126c0240t0003g0146
a0127c0241t0003g0138
a0128c0239t0003g0135
a0130c0075t0002g0093
a0131c0235t0003g0132
a0132c0236t0003g0147
a0133c0097t0001g0116
a0137c0094t0001g0111
a0138c0095t0001g0112
a0139c0142t0001g0127
a0141c0092t0001g0096
a0143c0087t0001g0085
a0144c0238t0003g0070
a0145c0089t0001g0080
a0146c0090t0001g0113
a0147c0088t0001g0082
a0149c0086t0002g0081
a0150c0082t0001g0088
a0157c0080t0003g0121
a0159c0141t0001g0108
a0160c0078t0001g0117
a0161c0079t0012g0141
a0162c0077t0001g0094
a0163c0098t0001g0122
a0169c0237t0003g0139
a0170c0105t0002g0076
a0171c0107t0001g0097
a0175c0116t0001g0152
a0176c0135t0001g0077
a0177c0119t0001g0089
a0178c0108t0001g0098
a0179c0121t0002g0101
a0183c0130t0002g0105
a0188c0074t0001g0092
a0189c0073t0001g0087
a0191c0150t0001g0090
a0192c0137t0001g0078
a0193c0138t0001g0075
a0194c0136t0001g0107
a0195c0243t0003g0148
a0196c0207t0002g0153
a0197c0057t0001g0068
a0198c0152t0001g0118
a0201c0154t0001g0110
a0203c0210t0003g0149
a0204c0053t0001g0065
a0205c0245t0002g0067
a0208c0056t0003g0115
a0209c0054t0003g0134
a0210c0055t0003g0114
 134 HG00140.hp1
HG00140.hp2
HG00323.hp2
others(131): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00438.hp2
HG00558.hp1
HG00621.hp2
HG00639.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG01099.hp1
HG01106.hp1
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp2
HG01346.hp2
HG01496.hp1
HG01496.hp2
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG01975.hp1
HG02004.hp1
HG02015.hp1
HG02027.hp1
HG02055.hp1
HG02055.hp2
HG02056.hp2
HG02109.hp1
HG02109.hp2
HG02148.hp2
HG02257.hp1
HG02258.hp1
HG02258.hp2
HG02273.hp2
HG02280.hp1
HG02280.hp2
HG02300.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02809.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03098.hp2
HG03130.hp2
HG03139.hp1
HG03195.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03491.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03710.hp2
HG03834.hp1
HG03927.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18941.hp1
NA18948.hp1
NA18951.hp1
NA18952.hp2
NA18954.hp2
NA18956.hp2
NA18968.hp1
NA18970.hp1
NA18970.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA19000.hp1
NA19005.hp2
NA19007.hp1
NA19010.hp1
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19058.hp1
NA19070.hp2
NA19074.hp2
NA19076.hp1
NA19077.hp2
NA19079.hp2
NA19091.hp2
NA20300.hp2
NA20752.hp2
 intron_variant MODIFIER c.55+825G>A
c.55+825G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977358
chr14:104977389 C
C
 G
G
 1 a0111c0232t0002g0066
a0111c0232t0002g0066
 1 HG04228.hp2
HG04228.hp2
 intron_variant MODIFIER c.55+794G>C
c.55+794G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977389
chr14:104977627 C
C
 T
T
 1 a0204c0053t0001g0065
a0204c0053t0001g0065
 1 HG02723.hp2
HG02723.hp2
 intron_variant MODIFIER c.55+556G>A
c.55+556G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977627
chr14:104977660 C
C
 T
T
 3 a0001c0001t0002g0012
a0001c0001t0002g0051
a0129c0133t0001g0052
a0001c0001t0002g0012
a0001c0001t0002g0051
a0129c0133t0001g0052
 4 HG01071.hp2
HG01257.hp1
HG01433.hp1
others(1): Show 
HG01071.hp2
HG01257.hp1
HG01433.hp1
HG01517.hp1
 intron_variant MODIFIER c.55+523G>A
c.55+523G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977660
chr14:104977675 C
C
 T
T
 19 a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
others(16): Show 
a0001c0001t0002g0001
a0001c0001t0002g0012
a0001c0001t0002g0051
a0001c0001t0002g0053
a0001c0001t0002g0056
a0001c0003t0002g0002
a0001c0003t0002g0055
a0001c0003t0002g0060
a0001c0045t0002g0013
a0022c0044t0002g0057
a0022c0044t0002g0059
a0025c0052t0002g0014
a0025c0248t0002g0063
a0048c0034t0001g0054
a0105c0211t0002g0061
a0113c0216t0002g0058
a0115c0217t0002g0064
a0120c0214t0002g0062
a0129c0133t0001g0052
 31 HG00099.hp1
HG00099.hp2
HG00642.hp1
others(28): Show 
HG00099.hp1
HG00099.hp2
HG00642.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01071.hp2
HG01081.hp2
HG01106.hp2
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01255.hp1
HG01256.hp1
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01433.hp1
HG01433.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01975.hp2
HG01981.hp1
HG02293.hp2
HG02300.hp2
HG03704.hp1
HG04184.hp1
NA20752.hp1
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55+508G>A
c.55+508G>A
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977675
chr14:104977821 C
C
 G
G
 1 a0002c0002t0001g0048
a0002c0002t0001g0048
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.55+362G>C
c.55+362G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977821
chr14:104977918 C
C
 G
G
 2 a0028c0019t0009g0049
a0028c0019t0009g0050
a0028c0019t0009g0049
a0028c0019t0009g0050
 2 HG02896.hp1
HG02897.hp2
HG02896.hp1
HG02897.hp2
 intron_variant MODIFIER c.55+265G>C
c.55+265G>C
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977918
chr14:104977926 A
A
 C
C
 1 a0002c0002t0001g0048
a0002c0002t0001g0048
 1 NA19081.hp1
NA19081.hp1
 intron_variant MODIFIER c.55+257T>G
c.55+257T>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104977926
chr14:104978162 T
T
 C
C
 1 a0108c0218t0002g0303
a0108c0218t0002g0303
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.55+21A>G
c.55+21A>G
AHNAK2 ENSG00000185567.7 transcript ENST00000333244.6 protein_coding 1/6 chr14 104978162

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

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

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

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