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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   SMIM2_chr13_44138150_44166257  SMIM2_chr13_44138150_44166257 (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 79024
ensemblid ENSG00000139656.8
hgncid 28776
symbol SMIM2
name small integral membrane protein 2
refseq_nuc NM_024058.3
refseq_prot NP_076963.1
ensembl_nuc ENST00000400419.2
ensembl_prot ENSP00000383270.1
mane_status MANE Select
chr chr13
start 44143150
end 44161257
strand -
ver v1.2
region chr13:44143150-44161257
region5000 chr13:44138150-44166257
regionname0 SMIM2_chr13_44143150_44161257
regionname5000 SMIM2_chr13_44138150_44166257

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 85 379 95 64 156 16 46 116 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0002 0/0 85 1 1 0 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 258 378 94 64 156 16 46 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
c0002 0/0 258 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
c0003 0/0 258 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 1/0 958 206 65 26 95 3 16 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0002 0/1 958 110 9 31 40 10 19 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0003 0/0 958 50 12 6 20 3 9 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0004 0/0 958 10 9 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0005 0/0 958 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0006 0/0 958 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0007 0/0 958 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
t0008 0/0 958 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 55 3 7 39 1 5 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0002 0/0 37 3 11 13 3 7 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0003 1/0 14 2 0 7 0 4 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0004 0/0 11 0 1 10 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0005 0/0 11 0 3 8 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0006 0/0 10 0 2 4 1 3 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0007 0/0 9 3 1 2 1 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0008 0/0 9 8 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0009 0/0 7 6 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0010 0/0 6 0 0 6 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0011 0/0 6 1 4 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0012 0/0 5 5 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0013 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0014 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0015 0/1 5 0 1 0 1 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0016 0/0 5 0 1 4 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0017 0/0 5 0 5 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0018 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0019 0/0 4 0 3 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0020 0/0 4 4 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0021 0/0 4 1 3 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0022 0/0 4 0 0 0 2 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0023 0/0 4 3 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0024 0/0 4 4 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0025 0/0 3 3 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0026 0/0 3 0 0 3 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0027 0/0 3 0 0 3 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0028 0/0 3 0 2 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0029 0/0 3 2 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0030 0/0 3 0 1 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0031 0/0 3 0 2 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0032 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0033 0/0 2 0 1 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0034 0/0 2 1 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0035 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0036 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0037 0/0 2 1 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0038 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0039 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0040 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0041 0/0 2 0 2 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0042 0/0 2 0 0 0 0 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0043 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0044 0/0 2 1 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0045 0/0 2 0 0 0 1 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0046 0/0 2 0 0 0 2 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0047 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0048 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0049 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0050 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0051 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0052 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0053 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0054 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0055 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0056 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0057 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0058 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0059 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0060 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0061 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0062 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0063 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0064 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0065 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0066 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0067 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0068 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0069 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0070 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0071 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0072 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0073 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0074 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0075 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0076 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0077 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0078 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0079 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0080 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0081 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0082 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0083 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0084 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0085 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0086 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0087 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0088 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0089 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0090 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0091 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0092 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0093 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0094 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0095 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0096 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0097 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0098 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0099 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0100 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0101 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0102 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0103 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0104 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0105 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0106 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0107 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0108 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0109 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0110 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0111 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0112 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0113 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0114 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0115 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0116 0/0 1 0 0 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0117 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0118 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0119 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0120 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0121 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0122 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0123 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0124 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0125 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0126 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0127 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0128 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0129 0/0 1 0 0 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0130 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0131 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0132 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0133 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0134 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0135 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0136 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0137 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0138 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0139 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
g0140 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 258 378 94 64 156 16 46 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0003 0/0 258 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0002c0002 0/0 258 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 1/0 1215 205 64 26 95 3 16 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0002 0/1 1215 110 9 31 40 10 19 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0003 0/0 1215 50 12 6 20 3 9 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0004 0/0 1215 10 9 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0006 0/0 1215 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0007 0/0 1215 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0001t0008 0/0 1215 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0001c0003t0005 0/0 1215 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257
a0002c0002t0001 0/0 1215 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 copy fasta chr13 44138150 44166257

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0001 0/0 55 3 7 39 1 5 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0003 1/0 14 2 0 7 0 4 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0004 0/0 11 0 1 10 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0007 0/0 9 3 1 2 1 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0008 0/0 9 8 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0009 0/0 7 6 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0010 0/0 6 0 0 6 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0019 0/0 4 0 3 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0021 0/0 4 1 3 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0023 0/0 4 3 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0024 0/0 4 4 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0026 0/0 3 0 0 3 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0028 0/0 3 0 2 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0029 0/0 3 2 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0032 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0033 0/0 2 0 1 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0035 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0036 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0037 0/0 2 1 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0038 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0040 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0043 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0051 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0052 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0053 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0054 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0057 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0061 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0062 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0063 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0064 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0065 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0066 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0068 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0069 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0070 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0071 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0072 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0073 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0074 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0075 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0076 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0077 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0078 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0080 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0081 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0082 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0083 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0084 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0085 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0087 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0097 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0098 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0099 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0100 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0102 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0103 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0104 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0106 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0107 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0108 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0109 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0110 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0111 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0112 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0113 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0114 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0117 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0131 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0132 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0134 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0138 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0001g0140 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0002 0/0 37 3 11 13 3 7 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0005 0/0 11 0 3 8 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0011 0/0 6 1 4 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0015 0/1 5 0 1 0 1 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0016 0/0 5 0 1 4 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0017 0/0 5 0 5 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0018 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0030 0/0 3 0 1 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0031 0/0 3 0 2 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0034 0/0 2 1 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0044 0/0 2 1 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0045 0/0 2 0 0 0 1 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0046 0/0 2 0 0 0 2 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0047 0/0 2 2 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0055 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0086 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0088 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0115 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0116 0/0 1 0 0 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0118 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0119 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0120 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0121 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0124 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0125 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0126 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0127 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0128 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0129 0/0 1 0 0 0 1 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0130 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0133 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0135 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0136 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0002g0139 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0006 0/0 10 0 2 4 1 3 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0013 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0014 0/0 5 0 0 5 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0020 0/0 4 4 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0022 0/0 4 0 0 0 2 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0027 0/0 3 0 0 3 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0039 0/0 2 0 0 2 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0041 0/0 2 0 2 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0042 0/0 2 0 0 0 0 2 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0058 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0067 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0089 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0090 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0091 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0092 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0093 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0094 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0095 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0096 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0101 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0123 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0003g0137 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0004g0012 0/0 5 5 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0004g0025 0/0 3 3 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0004g0049 0/0 1 0 1 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0004g0050 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0006g0122 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0007g0105 0/0 1 0 0 0 0 1 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0001t0008g0079 0/0 1 0 0 1 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0001c0003t0005g0056 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
a0002c0002t0001g0048 0/0 1 1 0 0 0 0 SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0001 c0001 t0001 g0028 EUR GBR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00099 hp2 a0001 c0001 t0003 g0006 EUR GBR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00140 hp1 a0001 c0001 t0001 g0001 EUR GBR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00140 hp2 a0001 c0001 t0002 g0002 EUR GBR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00323 hp1 a0001 c0001 t0003 g0022 EUR FIN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00323 hp2 a0001 c0001 t0002 g0129 EUR FIN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00423 hp1 a0001 c0001 t0001 g0032 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00423 hp2 a0001 c0001 t0001 g0004 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00544 hp1 a0001 c0001 t0001 g0065 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00544 hp2 a0001 c0001 t0001 g0001 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00597 hp1 a0001 c0001 t0001 g0059 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00597 hp2 a0001 c0001 t0001 g0032 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00609 hp1 a0001 c0001 t0001 g0001 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00609 hp2 a0001 c0001 t0002 g0002 EAS CHS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00639 hp1 a0001 c0001 t0004 g0049 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00639 hp2 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00642 hp1 a0001 c0001 t0002 g0017 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00642 hp2 a0001 c0001 t0003 g0041 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00733 hp1 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00733 hp2 a0001 c0001 t0003 g0006 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00735 hp1 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00735 hp2 a0001 c0001 t0001 g0021 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00738 hp1 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00738 hp2 a0001 c0001 t0002 g0011 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00741 hp1 a0001 c0001 t0001 g0021 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG00741 hp2 a0001 c0001 t0001 g0001 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01069 hp1 a0001 c0001 t0002 g0031 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01069 hp2 a0001 c0001 t0001 g0028 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01070 hp1 a0001 c0001 t0001 g0001 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01070 hp2 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01071 hp1 a0001 c0001 t0001 g0028 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01071 hp2 a0001 c0001 t0001 g0001 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01074 hp1 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01074 hp2 a0001 c0001 t0001 g0029 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01081 hp1 a0001 c0001 t0002 g0002 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01081 hp2 a0001 c0001 t0001 g0019 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01099 hp1 a0001 c0001 t0003 g0101 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01099 hp2 a0001 c0001 t0001 g0021 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01106 hp1 a0001 c0001 t0002 g0011 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01106 hp2 a0001 c0001 t0002 g0133 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01109 hp1 a0001 c0001 t0001 g0037 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01109 hp2 a0001 c0001 t0002 g0017 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01167 hp1 a0001 c0001 t0002 g0005 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01167 hp2 a0001 c0001 t0001 g0001 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01169 hp1 a0001 c0001 t0002 g0005 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01169 hp2 a0001 c0001 t0002 g0005 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01175 hp1 a0001 c0001 t0001 g0033 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01175 hp2 a0001 c0001 t0003 g0123 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01243 hp1 a0001 c0001 t0001 g0019 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01243 hp2 a0001 c0001 t0001 g0004 AMR PUR SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01255 hp1 a0001 c0001 t0001 g0071 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01255 hp2 a0001 c0001 t0001 g0001 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01256 hp1 a0001 c0001 t0002 g0011 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01256 hp2 a0001 c0001 t0002 g0139 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01258 hp1 a0001 c0001 t0002 g0011 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01258 hp2 a0001 c0001 t0002 g0002 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01346 hp1 a0001 c0001 t0002 g0002 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01346 hp2 a0001 c0001 t0003 g0006 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01358 hp1 a0001 c0001 t0001 g0019 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01358 hp2 a0001 c0001 t0002 g0015 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01361 hp1 a0001 c0001 t0002 g0002 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01361 hp2 a0001 c0001 t0001 g0007 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01433 hp1 a0001 c0001 t0003 g0041 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01433 hp2 a0001 c0001 t0002 g0017 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01496 hp1 a0001 c0001 t0001 g0001 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01496 hp2 a0001 c0001 t0001 g0023 AMR CLM SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01515 hp1 a0001 c0001 t0002 g0031 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01515 hp2 a0001 c0001 t0003 g0022 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01516 hp1 a0001 c0001 t0002 g0116 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01516 hp2 a0001 c0001 t0002 g0046 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01517 hp1 a0001 c0001 t0002 g0002 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01517 hp2 a0001 c0001 t0002 g0046 EUR IBS SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01884 hp1 a0001 c0001 t0004 g0012 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01884 hp2 a0001 c0001 t0003 g0020 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01891 hp1 a0001 c0001 t0001 g0029 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01891 hp2 a0001 c0001 t0001 g0008 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01928 hp1 a0001 c0001 t0001 g0117 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01928 hp2 a0001 c0001 t0002 g0017 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01975 hp1 a0001 c0001 t0002 g0030 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01975 hp2 a0001 c0001 t0001 g0008 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01981 hp1 a0001 c0001 t0002 g0031 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG01981 hp2 a0001 c0001 t0001 g0111 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02015 hp1 a0001 c0001 t0003 g0014 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02015 hp2 a0001 c0001 t0002 g0018 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02027 hp1 a0001 c0001 t0002 g0005 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02027 hp2 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02040 hp1 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02040 hp2 a0001 c0001 t0003 g0014 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02055 hp1 a0001 c0001 t0003 g0067 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02055 hp2 a0001 c0001 t0001 g0024 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02056 hp1 a0001 c0001 t0002 g0018 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02056 hp2 a0001 c0001 t0001 g0004 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02071 hp1 a0001 c0001 t0001 g0080 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02071 hp2 a0001 c0001 t0002 g0016 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02074 hp1 a0001 c0001 t0002 g0005 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02074 hp2 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02080 hp1 a0001 c0001 t0003 g0014 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02080 hp2 a0001 c0001 t0002 g0002 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02083 hp1 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02083 hp2 a0001 c0001 t0002 g0118 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02129 hp1 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02129 hp2 a0001 c0001 t0002 g0115 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02132 hp1 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02132 hp2 a0001 c0001 t0002 g0016 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02135 hp1 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02135 hp2 a0001 c0001 t0001 g0131 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02145 hp1 a0001 c0001 t0001 g0001 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02145 hp2 a0001 c0001 t0001 g0043 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02148 hp1 a0001 c0001 t0002 g0017 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02148 hp2 a0001 c0001 t0001 g0063 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02155 hp1 a0001 c0001 t0001 g0001 EAS CDX SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02155 hp2 a0001 c0001 t0002 g0034 EAS CDX SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02165 hp1 a0001 c0001 t0001 g0069 EAS CDX SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02165 hp2 a0001 c0001 t0002 g0002 EAS CDX SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02257 hp1 a0001 c0001 t0001 g0009 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02257 hp2 a0001 c0001 t0001 g0110 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02258 hp1 a0001 c0001 t0001 g0001 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02258 hp2 a0001 c0001 t0001 g0107 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02273 hp1 a0001 c0001 t0002 g0016 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02273 hp2 a0001 c0001 t0001 g0001 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02280 hp1 a0001 c0001 t0001 g0085 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02280 hp2 a0001 c0001 t0001 g0109 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02293 hp1 a0001 c0001 t0002 g0002 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02293 hp2 a0001 c0001 t0002 g0120 AMR PEL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02451 hp1 a0001 c0001 t0001 g0009 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02451 hp2 a0001 c0001 t0004 g0025 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02523 hp1 a0001 c0001 t0001 g0062 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02523 hp2 a0001 c0001 t0001 g0001 EAS KHV SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02572 hp1 a0001 c0001 t0003 g0058 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02572 hp2 a0001 c0001 t0001 g0023 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02602 hp1 a0001 c0001 t0003 g0006 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02602 hp2 a0001 c0001 t0002 g0011 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02615 hp1 a0001 c0001 t0003 g0092 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02615 hp2 a0001 c0001 t0001 g0038 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02622 hp1 a0001 c0001 t0001 g0038 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02622 hp2 a0001 c0001 t0001 g0052 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02630 hp1 a0001 c0001 t0001 g0140 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02630 hp2 a0001 c0001 t0001 g0043 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02647 hp1 a0001 c0001 t0003 g0137 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02647 hp2 a0001 c0001 t0001 g0099 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02683 hp1 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02683 hp2 a0001 c0001 t0003 g0089 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02698 hp1 a0001 c0001 t0003 g0006 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02698 hp2 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02717 hp1 a0001 c0001 t0001 g0024 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02717 hp2 a0001 c0001 t0002 g0034 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02723 hp1 a0001 c0001 t0001 g0098 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02723 hp2 a0001 c0001 t0001 g0100 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02735 hp1 a0001 c0001 t0002 g0126 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02735 hp2 a0001 c0001 t0001 g0051 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02738 hp1 a0001 c0001 t0001 g0001 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02738 hp2 a0001 c0001 t0003 g0042 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02809 hp1 a0001 c0001 t0001 g0057 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02809 hp2 a0001 c0001 t0003 g0020 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02818 hp1 a0001 c0001 t0001 g0087 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02818 hp2 a0001 c0001 t0001 g0009 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02886 hp1 a0001 c0001 t0001 g0008 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02886 hp2 a0001 c0003 t0005 g0056 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02895 hp1 a0001 c0001 t0002 g0047 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02895 hp2 a0001 c0001 t0003 g0094 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02896 hp1 a0001 c0001 t0001 g0106 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02896 hp2 a0001 c0001 t0004 g0012 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02897 hp1 a0001 c0001 t0004 g0012 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02897 hp2 a0001 c0001 t0002 g0047 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02922 hp1 a0001 c0001 t0001 g0009 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02922 hp2 a0001 c0001 t0003 g0020 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02965 hp1 a0001 c0001 t0002 g0002 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02965 hp2 a0001 c0001 t0001 g0008 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02976 hp1 a0001 c0001 t0004 g0050 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02976 hp2 a0001 c0001 t0001 g0132 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03017 hp1 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03017 hp2 a0001 c0001 t0003 g0042 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03041 hp1 a0001 c0001 t0001 g0024 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03041 hp2 a0001 c0001 t0001 g0078 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03098 hp1 a0001 c0001 t0001 g0003 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03098 hp2 a0001 c0001 t0001 g0007 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03139 hp1 a0001 c0001 t0001 g0138 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03139 hp2 a0001 c0001 t0001 g0009 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03195 hp1 a0001 c0001 t0001 g0097 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03195 hp2 a0002 c0002 t0001 g0048 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03209 hp1 a0001 c0001 t0003 g0020 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03209 hp2 a0001 c0001 t0004 g0025 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03225 hp1 a0001 c0001 t0001 g0008 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03225 hp2 a0001 c0001 t0001 g0029 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03239 hp1 a0001 c0001 t0002 g0015 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03239 hp2 a0001 c0001 t0001 g0001 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03453 hp1 a0001 c0001 t0001 g0040 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03453 hp2 a0001 c0001 t0001 g0104 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03486 hp1 a0001 c0001 t0001 g0108 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03486 hp2 a0001 c0001 t0001 g0007 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03490 hp1 a0001 c0001 t0001 g0001 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03490 hp2 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03492 hp1 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03492 hp2 a0001 c0001 t0001 g0001 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03516 hp1 a0001 c0001 t0003 g0093 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03516 hp2 a0001 c0001 t0003 g0091 AFR ESN SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03540 hp1 a0001 c0001 t0001 g0037 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03540 hp2 a0001 c0001 t0001 g0007 AFR GWD SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03579 hp1 a0001 c0001 t0001 g0103 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03579 hp2 a0001 c0001 t0001 g0054 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03654 hp1 a0001 c0001 t0001 g0003 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03654 hp2 a0001 c0001 t0002 g0002 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03669 hp1 a0001 c0001 t0003 g0090 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03669 hp2 a0001 c0001 t0006 g0122 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03688 hp1 a0001 c0001 t0002 g0088 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03688 hp2 a0001 c0001 t0002 g0045 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03704 hp1 a0001 c0001 t0003 g0022 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03704 hp2 a0001 c0001 t0001 g0003 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03710 hp1 a0001 c0001 t0001 g0070 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03710 hp2 a0001 c0001 t0002 g0135 SAS PJL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03831 hp1 a0001 c0001 t0002 g0136 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03831 hp2 a0001 c0001 t0001 g0007 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03834 hp1 a0001 c0001 t0001 g0113 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03834 hp2 a0001 c0001 t0003 g0022 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03927 hp1 a0001 c0001 t0001 g0001 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03927 hp2 a0001 c0001 t0001 g0003 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03942 hp1 a0001 c0001 t0002 g0124 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03942 hp2 a0001 c0001 t0001 g0053 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04184 hp1 a0001 c0001 t0002 g0044 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04184 hp2 a0001 c0001 t0001 g0007 SAS BEB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04199 hp1 a0001 c0001 t0001 g0033 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04199 hp2 a0001 c0001 t0002 g0015 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04204 hp1 a0001 c0001 t0007 g0105 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04204 hp2 a0001 c0001 t0001 g0003 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04228 hp1 a0001 c0001 t0002 g0127 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG04228 hp2 a0001 c0001 t0003 g0006 SAS STU SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18522 hp1 a0001 c0001 t0001 g0003 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18522 hp2 a0001 c0001 t0001 g0008 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18612 hp1 a0001 c0001 t0001 g0001 EAS CHB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18612 hp2 a0001 c0001 t0001 g0061 EAS CHB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18747 hp1 a0001 c0001 t0002 g0030 EAS CHB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18747 hp2 a0001 c0001 t0001 g0001 EAS CHB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18906 hp1 a0001 c0001 t0001 g0023 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18906 hp2 a0001 c0001 t0002 g0121 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18939 hp1 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18939 hp2 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18940 hp1 a0001 c0001 t0002 g0016 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18940 hp2 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18941 hp1 a0001 c0001 t0001 g0073 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18941 hp2 a0001 c0001 t0001 g0084 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18942 hp1 a0001 c0001 t0002 g0018 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18942 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18943 hp1 a0001 c0001 t0003 g0027 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18943 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18944 hp1 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18944 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18947 hp1 a0001 c0001 t0002 g0055 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18947 hp2 a0001 c0001 t0001 g0026 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18950 hp1 a0001 c0001 t0001 g0009 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18950 hp2 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18951 hp1 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18951 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18953 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18953 hp2 a0001 c0001 t0003 g0006 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18957 hp1 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18957 hp2 a0001 c0001 t0003 g0013 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18959 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18959 hp2 a0001 c0001 t0003 g0095 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18960 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18960 hp2 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18961 hp1 a0001 c0001 t0001 g0035 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18961 hp2 a0001 c0001 t0003 g0013 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18962 hp1 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18962 hp2 a0001 c0001 t0003 g0027 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18963 hp1 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18963 hp2 a0001 c0001 t0001 g0035 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18966 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18966 hp2 a0001 c0001 t0001 g0077 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18969 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18969 hp2 a0001 c0001 t0003 g0013 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18971 hp1 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18971 hp2 a0001 c0001 t0001 g0026 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18972 hp1 a0001 c0001 t0003 g0013 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18972 hp2 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18973 hp1 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18973 hp2 a0001 c0001 t0003 g0006 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18975 hp1 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18975 hp2 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18978 hp1 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18978 hp2 a0001 c0001 t0003 g0014 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18980 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18980 hp2 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18982 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18982 hp2 a0001 c0001 t0001 g0036 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18983 hp1 a0001 c0001 t0001 g0019 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18983 hp2 a0001 c0001 t0002 g0130 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18984 hp1 a0001 c0001 t0003 g0013 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18984 hp2 a0001 c0001 t0001 g0036 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18985 hp1 a0001 c0001 t0001 g0066 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18985 hp2 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18986 hp1 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18986 hp2 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18987 hp1 a0001 c0001 t0001 g0072 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18987 hp2 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18988 hp1 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18988 hp2 a0001 c0001 t0001 g0026 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18989 hp1 a0001 c0001 t0001 g0081 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18989 hp2 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18990 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18990 hp2 a0001 c0001 t0001 g0075 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18991 hp1 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18991 hp2 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18999 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA18999 hp2 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19004 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19004 hp2 a0001 c0001 t0003 g0027 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19005 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19005 hp2 a0001 c0001 t0002 g0018 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19007 hp1 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19007 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19009 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19009 hp2 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19011 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19011 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19030 hp1 a0001 c0001 t0001 g0040 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19030 hp2 a0001 c0001 t0001 g0114 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19043 hp1 a0001 c0001 t0001 g0112 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19043 hp2 a0001 c0001 t0001 g0009 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19055 hp1 a0001 c0001 t0002 g0018 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19055 hp2 a0001 c0001 t0001 g0007 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19057 hp1 a0001 c0001 t0001 g0082 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19057 hp2 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19058 hp1 a0001 c0001 t0001 g0007 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19058 hp2 a0001 c0001 t0002 g0030 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19060 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19060 hp2 a0001 c0001 t0003 g0039 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19062 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19062 hp2 a0001 c0001 t0001 g0076 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19063 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19063 hp2 a0001 c0001 t0002 g0016 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19064 hp1 a0001 c0001 t0002 g0086 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19064 hp2 a0001 c0001 t0002 g0125 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19065 hp1 a0001 c0001 t0003 g0039 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19065 hp2 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19068 hp1 a0001 c0001 t0001 g0083 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19068 hp2 a0001 c0001 t0001 g0003 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19072 hp1 a0001 c0001 t0001 g0074 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19072 hp2 a0001 c0001 t0001 g0010 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19074 hp1 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19074 hp2 a0001 c0001 t0003 g0006 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19075 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19075 hp2 a0001 c0001 t0001 g0068 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19077 hp1 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19077 hp2 a0001 c0001 t0001 g0004 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19078 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19078 hp2 a0001 c0001 t0002 g0128 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19079 hp1 a0001 c0001 t0001 g0001 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19079 hp2 a0001 c0001 t0003 g0014 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19080 hp1 a0001 c0001 t0001 g0060 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19080 hp2 a0001 c0001 t0002 g0002 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19081 hp1 a0001 c0001 t0008 g0079 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19081 hp2 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19086 hp1 a0001 c0001 t0003 g0006 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19086 hp2 a0001 c0001 t0002 g0005 EAS JPT SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19240 hp1 a0001 c0001 t0001 g0134 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA19240 hp2 a0001 c0001 t0002 g0002 AFR YRI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20129 hp1 a0001 c0001 t0001 g0008 AFR ASW SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20129 hp2 a0001 c0001 t0001 g0064 AFR ASW SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20752 hp1 a0001 c0001 t0002 g0002 EUR TSI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20752 hp2 a0001 c0001 t0002 g0045 EUR TSI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20805 hp1 a0001 c0001 t0001 g0007 EUR TSI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20805 hp2 a0001 c0001 t0002 g0015 EUR TSI SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20905 hp1 a0001 c0001 t0002 g0119 SAS GIH SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20905 hp2 a0001 c0001 t0002 g0002 SAS GIH SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02109 hp1 a0001 c0001 t0004 g0012 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02109 hp2 a0001 c0001 t0001 g0024 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02486 hp1 a0001 c0001 t0002 g0002 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02486 hp2 a0001 c0001 t0001 g0008 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02559 hp1 a0001 c0001 t0004 g0012 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG02559 hp2 a0001 c0001 t0003 g0096 AFR ACB SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03471 hp1 a0001 c0001 t0004 g0025 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG03471 hp2 a0001 c0001 t0001 g0008 AFR MSL SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG06807 hp1 a0001 c0001 t0001 g0023 AFR USA SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
HG06807 hp2 a0001 c0001 t0001 g0001 AFR USA SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20300 hp1 a0001 c0001 t0002 g0044 AFR USA SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA20300 hp2 a0001 c0001 t0002 g0011 AFR USA SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA21309 hp1 a0001 c0001 t0001 g0102 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
NA21309 hp2 a0001 c0001 t0001 g0021 AFR LWK SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
homoSapiens_chm13v2 hp1 a0001 c0001 t0002 g0015 REF REF SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257
homoSapiens_grch38 hp1 a0001 c0001 t0001 g0003 REF REF SMIM2_chr13_44138150_44166257 SMIM2 chr13 44138150 44166257

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
chr13:44160669 C
C
 T
T
 1 a0002
a0002
 1 HG03195.hp2
HG03195.hp2
 missense_variant MODERATE c.187G>A
c.187G>A
 p.Ala63Thr
p.Ala63Thr
 SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/3 376/1215 187/258 63/85 chr13 44160669

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
chr13:44160703 G
G
 A
A
 1 a0001c0003
a0001c0003
 1 HG02886.hp2
HG02886.hp2
 synonymous_variant LOW c.153C>T
c.153C>T
 p.Ser51Ser
p.Ser51Ser
 SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/3 342/1215 153/258 51/85 chr13 44160703

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
chr13:44143154 C
C
 T
T
 1 a0001c0001t0006
a0001c0001t0006
 1 HG03669.hp2
HG03669.hp2
 3_prime_UTR_variant MODIFIER c.*764G>A
c.*764G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 764 chr13 44143154
chr13:44143238 C
C
 G
G
 1 a0001c0001t0004
a0001c0001t0004
 10 HG00639.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG00639.hp1
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
 3_prime_UTR_variant MODIFIER c.*680G>C
c.*680G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 680 chr13 44143238
chr13:44143350 C
C
 T
T
 1 a0001c0001t0007
a0001c0001t0007
 1 HG04204.hp1
HG04204.hp1
 3_prime_UTR_variant MODIFIER c.*568G>A
c.*568G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 568 chr13 44143350
chr13:44143594 G
G
 A
A
 2 a0001c0001t0003
a0001c0001t0007
a0001c0001t0003
a0001c0001t0007
 51 HG00099.hp2
HG00323.hp1
HG00642.hp2
others(48): Show 
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG01099.hp1
HG01175.hp2
HG01346.hp2
HG01433.hp1
HG01515.hp2
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp1
HG02080.hp1
HG02559.hp2
HG02572.hp1
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02698.hp1
HG02738.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG03017.hp2
HG03209.hp1
HG03516.hp1
HG03516.hp2
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
NA18943.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp2
NA18961.hp2
NA18962.hp2
NA18969.hp2
NA18972.hp1
NA18973.hp2
NA18978.hp2
NA18984.hp1
NA19004.hp2
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19079.hp2
NA19086.hp1
 3_prime_UTR_variant MODIFIER c.*324C>T
c.*324C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 324 chr13 44143594
chr13:44143597 G
G
 GA
GA
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*320_*321insT
c.*320_*321insT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 320 chr13 44143597
chr13:44143598 C
C
 G
G
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*320G>C
c.*320G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 320 chr13 44143598
chr13:44143599 T
T
 A
A
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*319A>T
c.*319A>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 319 chr13 44143599
chr13:44143602 TA
TA
 T
T
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*315delT
c.*315delT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 315 chr13 44143602
chr13:44143605 A
A
 G
G
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*313T>C
c.*313T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 313 chr13 44143605
chr13:44143606 C
C
 T
T
 2 a0001c0001t0002
a0001c0001t0006
a0001c0001t0002
a0001c0001t0006
 111 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(108): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02148.hp1
HG02155.hp2
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02717.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*312G>A
c.*312G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 312 chr13 44143606
chr13:44143670 G
G
 A
A
 1 a0001c0001t0008
a0001c0001t0008
 1 NA19081.hp1
NA19081.hp1
 3_prime_UTR_variant MODIFIER c.*248C>T
c.*248C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 248 chr13 44143670
chr13:44143720 C
C
 T
T
 1 a0001c0003t0005
a0001c0003t0005
 1 HG02886.hp2
HG02886.hp2
 3_prime_UTR_variant MODIFIER c.*198G>A
c.*198G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 3/3 198 chr13 44143720

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
chr13:44143996 CTGACCTA
CTGACCTA
 C
C
 25 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(22): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0134
 39 HG00099.hp1
HG00735.hp2
HG00741.hp1
others(36): Show 
HG00099.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp2
HG01255.hp1
HG01496.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-81_254-75delTA
others(5): Show 
c.254-81_254-75delTAGGTCA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44143996
chr13:44144029 G
G
 T
T
 1 a0001c0001t0002g0047
a0001c0001t0002g0047
 2 HG02895.hp1
HG02897.hp2
HG02895.hp1
HG02897.hp2
 intron_variant MODIFIER c.254-107C>A
c.254-107C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144029
chr13:44144118 G
G
 T
T
 1 a0001c0001t0001g0111
a0001c0001t0001g0111
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.254-196C>A
c.254-196C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144118
chr13:44144236 A
A
 T
T
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
 13 HG01891.hp2
HG01975.hp2
HG02145.hp2
others(10): Show 
HG01891.hp2
HG01975.hp2
HG02145.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.254-314T>A
c.254-314T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144236
chr13:44144410 G
G
 A
A
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 3 NA18947.hp2
NA18971.hp2
NA18988.hp2
NA18947.hp2
NA18971.hp2
NA18988.hp2
 intron_variant MODIFIER c.254-488C>T
c.254-488C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144410
chr13:44144567 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.254-645A>G
c.254-645A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144567
chr13:44144660 C
C
 G
G
 2 a0001c0001t0001g0085
a0001c0001t0001g0138
a0001c0001t0001g0085
a0001c0001t0001g0138
 2 HG02280.hp1
HG03139.hp1
HG02280.hp1
HG03139.hp1
 intron_variant MODIFIER c.254-738G>C
c.254-738G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144660
chr13:44144789 G
G
 A
A
 25 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(22): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0134
 39 HG00099.hp1
HG00735.hp2
HG00741.hp1
others(36): Show 
HG00099.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp2
HG01255.hp1
HG01496.hp2
HG01891.hp1
HG01928.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp2
HG02647.hp2
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02896.hp1
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03579.hp1
HG03710.hp1
HG06807.hp1
NA18906.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-867C>T
c.254-867C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144789
chr13:44144867 C
C
 T
T
 1 a0001c0001t0001g0052
a0001c0001t0001g0052
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.254-945G>A
c.254-945G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144867
chr13:44144933 G
G
 A
A
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.254-1011C>T
c.254-1011C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44144933
chr13:44145076 G
G
 A
A
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.254-1154C>T
c.254-1154C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44145076
chr13:44145087 C
C
 T
T
 1 a0001c0001t0002g0121
a0001c0001t0002g0121
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.254-1165G>A
c.254-1165G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44145087
chr13:44145219 GA
GA
 G
G
 2 a0001c0001t0002g0046
a0001c0001t0002g0116
a0001c0001t0002g0046
a0001c0001t0002g0116
 3 HG01516.hp1
HG01516.hp2
HG01517.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp2
 intron_variant MODIFIER c.254-1298delT
c.254-1298delT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44145219
chr13:44145306 A
A
 G
G
 1 a0001c0001t0002g0120
a0001c0001t0002g0120
 1 HG02293.hp2
HG02293.hp2
 intron_variant MODIFIER c.254-1384T>C
c.254-1384T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44145306
chr13:44145943 A
A
 G
G
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.254-2021T>C
c.254-2021T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44145943
chr13:44146061 T
T
 A
A
 2 a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0102
a0001c0001t0001g0103
 2 HG03579.hp1
NA21309.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.254-2139A>T
c.254-2139A>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146061
chr13:44146081 G
G
 T
T
 29 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(26): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0100
a0001c0001t0001g0131
a0001c0001t0008g0079
 110 HG00140.hp1
HG00544.hp1
HG00544.hp2
others(107): Show 
HG00140.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00609.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02723.hp2
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18962.hp1
NA18966.hp1
NA18969.hp1
NA18971.hp2
NA18972.hp2
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.254-2159C>A
c.254-2159C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146081
chr13:44146092 A
A
 G
G
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG00544.hp1
HG00544.hp1
 intron_variant MODIFIER c.254-2170T>C
c.254-2170T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146092
chr13:44146244 C
C
 T
T
 1 a0001c0001t0003g0093
a0001c0001t0003g0093
 1 HG03516.hp1
HG03516.hp1
 intron_variant MODIFIER c.254-2322G>A
c.254-2322G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146244
chr13:44146278 A
A
 G
G
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
 13 HG01891.hp2
HG01975.hp2
HG02145.hp2
others(10): Show 
HG01891.hp2
HG01975.hp2
HG02145.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.254-2356T>C
c.254-2356T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146278
chr13:44146385 C
C
 T
T
 1 a0001c0001t0001g0069
a0001c0001t0001g0069
 1 HG02165.hp1
HG02165.hp1
 intron_variant MODIFIER c.254-2463G>A
c.254-2463G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146385
chr13:44146829 A
A
 G
G
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.254-2907T>C
c.254-2907T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146829
chr13:44146965 G
G
 A
A
 2 a0001c0001t0004g0025
a0001c0001t0004g0050
a0001c0001t0004g0025
a0001c0001t0004g0050
 4 HG02451.hp2
HG02976.hp1
HG03209.hp2
others(1): Show 
HG02451.hp2
HG02976.hp1
HG03209.hp2
HG03471.hp1
 intron_variant MODIFIER c.254-3043C>T
c.254-3043C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146965
chr13:44146967 G
G
 A
A
 1 a0001c0001t0002g0124
a0001c0001t0002g0124
 1 HG03942.hp1
HG03942.hp1
 intron_variant MODIFIER c.254-3045C>T
c.254-3045C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146967
chr13:44146971 C
C
 T
T
 2 a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0102
a0001c0001t0001g0103
 2 HG03579.hp1
NA21309.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.254-3049G>A
c.254-3049G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44146971
chr13:44147009 C
C
 T
T
 1 a0001c0001t0001g0068
a0001c0001t0001g0068
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.254-3087G>A
c.254-3087G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147009
chr13:44147103 G
G
 C
C
 1 a0001c0001t0001g0072
a0001c0001t0001g0072
 1 NA18987.hp1
NA18987.hp1
 intron_variant MODIFIER c.254-3181C>G
c.254-3181C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147103
chr13:44147224 GA
GA
 G
G
 40 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0123
a0001c0001t0006g0122
 125 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(122): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.254-3303delT
c.254-3303delT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147224
chr13:44147228 A
A
 G
G
 40 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
others(37): Show 
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0123
a0001c0001t0006g0122
 125 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(122): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02602.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02886.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03225.hp1
HG03239.hp1
HG03471.hp2
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.254-3306T>C
c.254-3306T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147228
chr13:44147431 C
C
 G
G
 27 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(24): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0003g0006
a0001c0001t0003g0022
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0067
a0001c0001t0003g0101
a0001c0001t0007g0105
 55 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(52): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp1
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp2
HG02602.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02896.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18953.hp2
NA18973.hp2
NA19030.hp1
NA19043.hp1
NA19074.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-3509G>C
c.254-3509G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147431
chr13:44147525 T
T
 C
C
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.254-3603A>G
c.254-3603A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147525
chr13:44147567 G
G
 A
A
 29 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(26): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0003g0006
a0001c0001t0003g0022
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0101
a0001c0001t0007g0105
 57 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(54): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02572.hp2
HG02602.hp1
HG02647.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02818.hp1
HG02896.hp1
HG03017.hp2
HG03041.hp1
HG03195.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03579.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18953.hp2
NA18973.hp2
NA19030.hp1
NA19043.hp1
NA19074.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-3645C>T
c.254-3645C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147567
chr13:44147624 A
A
 G
G
 2 a0001c0001t0001g0100
a0001c0001t0001g0112
a0001c0001t0001g0100
a0001c0001t0001g0112
 2 HG02723.hp2
NA19043.hp1
HG02723.hp2
NA19043.hp1
 intron_variant MODIFIER c.254-3702T>C
c.254-3702T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147624
chr13:44147695 A
A
 T
T
 4 a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
others(1): Show 
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
 10 HG00639.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG00639.hp1
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
 intron_variant MODIFIER c.254-3773T>A
c.254-3773T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147695
chr13:44147752 A
A
 G
G
 5 a0001c0001t0003g0014
a0001c0001t0003g0089
a0001c0001t0003g0090
others(2): Show 
a0001c0001t0003g0014
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0095
 9 HG02015.hp1
HG02040.hp2
HG02080.hp1
others(6): Show 
HG02015.hp1
HG02040.hp2
HG02080.hp1
HG02683.hp2
HG03516.hp2
HG03669.hp1
NA18959.hp2
NA18978.hp2
NA19079.hp2
 intron_variant MODIFIER c.254-3830T>C
c.254-3830T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44147752
chr13:44148176 T
T
 G
G
 44 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(41): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0003g0006
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0137
a0001c0001t0007g0105
 82 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18943.hp1
NA18953.hp2
NA18959.hp2
NA18962.hp2
NA18973.hp2
NA18978.hp2
NA19004.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-4254A>C
c.254-4254A>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44148176
chr13:44148359 G
G
 A
A
 1 a0001c0001t0002g0125
a0001c0001t0002g0125
 1 NA19064.hp2
NA19064.hp2
 intron_variant MODIFIER c.254-4437C>T
c.254-4437C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44148359
chr13:44148561 C
C
 G
G
 1 a0001c0001t0001g0066
a0001c0001t0001g0066
 1 NA18985.hp1
NA18985.hp1
 intron_variant MODIFIER c.254-4639G>C
c.254-4639G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44148561
chr13:44148937 G
G
 A
A
 1 a0001c0001t0002g0118
a0001c0001t0002g0118
 1 HG02083.hp2
HG02083.hp2
 intron_variant MODIFIER c.254-5015C>T
c.254-5015C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44148937
chr13:44149010 T
T
 C
C
 1 a0001c0001t0001g0073
a0001c0001t0001g0073
 1 NA18941.hp1
NA18941.hp1
 intron_variant MODIFIER c.254-5088A>G
c.254-5088A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149010
chr13:44149063 G
G
 A
A
 4 a0001c0001t0001g0029
a0001c0001t0001g0104
a0001c0001t0001g0110
others(1): Show 
a0001c0001t0001g0029
a0001c0001t0001g0104
a0001c0001t0001g0110
a0001c0001t0002g0126
 6 HG01074.hp2
HG01891.hp1
HG02257.hp2
others(3): Show 
HG01074.hp2
HG01891.hp1
HG02257.hp2
HG02735.hp1
HG03225.hp2
HG03453.hp2
 intron_variant MODIFIER c.254-5141C>T
c.254-5141C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149063
chr13:44149115 G
G
 C
C
 39 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(36): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0002g0034
a0001c0001t0003g0013
a0001c0001t0003g0067
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0008g0079
 133 HG00140.hp1
HG00423.hp1
HG00544.hp1
others(130): Show 
HG00140.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG01884.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02109.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02976.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03209.hp2
HG03239.hp2
HG03471.hp1
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.254-5193C>G
c.254-5193C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149115
chr13:44149187 G
G
 C
C
 40 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(37): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0003g0006
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0007g0105
 78 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(75): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02896.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18943.hp1
NA18953.hp2
NA18959.hp2
NA18962.hp2
NA18973.hp2
NA18978.hp2
NA19004.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.254-5265C>G
c.254-5265C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149187
chr13:44149478 A
A
 C
C
 35 a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
others(32): Show 
a0001c0001t0001g0001
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0002g0034
a0001c0001t0003g0013
a0001c0001t0003g0067
a0001c0001t0008g0079
 123 HG00140.hp1
HG00423.hp1
HG00544.hp1
others(120): Show 
HG00140.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18941.hp1
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.254-5556T>G
c.254-5556T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149478
chr13:44149490 C
C
 T
T
 1 a0001c0001t0001g0098
a0001c0001t0001g0098
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.254-5568G>A
c.254-5568G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149490
chr13:44149610 A
A
 C
C
 1 a0001c0001t0001g0106
a0001c0001t0001g0106
 1 HG02896.hp1
HG02896.hp1
 intron_variant MODIFIER c.254-5688T>G
c.254-5688T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149610
chr13:44149726 T
T
 C
C
 1 a0001c0001t0001g0075
a0001c0001t0001g0075
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.254-5804A>G
c.254-5804A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149726
chr13:44149801 G
G
 A
A
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
 13 HG01891.hp2
HG01975.hp2
HG02145.hp2
others(10): Show 
HG01891.hp2
HG01975.hp2
HG02145.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.254-5879C>T
c.254-5879C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149801
chr13:44149874 A
A
 C
C
 4 a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
others(1): Show 
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
 10 HG00639.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG00639.hp1
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
 intron_variant MODIFIER c.254-5952T>G
c.254-5952T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44149874
chr13:44150485 A
A
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.254-6563T>G
c.254-6563T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150485
chr13:44150485 A
A
 T
T
 1 a0001c0001t0002g0119
a0001c0001t0002g0119
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.254-6563T>A
c.254-6563T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150485
chr13:44150595 A
A
 T
T
 3 a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0046
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0046
 13 HG00738.hp2
HG01106.hp1
HG01256.hp1
others(10): Show 
HG00738.hp2
HG01106.hp1
HG01256.hp1
HG01258.hp1
HG01358.hp2
HG01516.hp2
HG01517.hp2
HG02602.hp2
HG03239.hp1
HG04199.hp2
NA20300.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.254-6673T>A
c.254-6673T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150595
chr13:44150612 A
A
 T
T
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.254-6690T>A
c.254-6690T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150612
chr13:44150818 T
T
 TCAA
TCAA
 5 a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
others(2): Show 
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0134
 5 HG02258.hp2
HG02280.hp2
HG02896.hp1
others(2): Show 
HG02258.hp2
HG02280.hp2
HG02896.hp1
HG03486.hp1
NA19240.hp1
 intron_variant MODIFIER c.254-6899_254-6897d
others(5): Show 
c.254-6899_254-6897dupTTG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150818
chr13:44150820 A
A
 AAC
AAC
 41 a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0037
others(38): Show 
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0001g0065
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0111
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0018
a0001c0001t0002g0031
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0139
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
 107 HG00140.hp2
HG00323.hp2
HG00544.hp1
others(104): Show 
HG00140.hp2
HG00323.hp2
HG00544.hp1
HG00609.hp2
HG00639.hp2
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01081.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp1
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp1
HG01361.hp1
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02074.hp1
HG02080.hp2
HG02129.hp2
HG02135.hp2
HG02165.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02647.hp1
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02895.hp2
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03540.hp1
HG03579.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03942.hp1
HG04228.hp1
NA18906.hp2
NA18939.hp2
NA18942.hp1
NA18947.hp1
NA18947.hp2
NA18950.hp2
NA18966.hp2
NA18971.hp1
NA18971.hp2
NA18983.hp1
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19062.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
 intron_variant MODIFIER c.254-6900_254-6899d
others(4): Show 
c.254-6900_254-6899dupGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACAAC
AACAAC
 8 a0001c0001t0001g0023
a0001c0001t0001g0110
a0001c0001t0003g0006
others(5): Show 
a0001c0001t0001g0023
a0001c0001t0001g0110
a0001c0001t0003g0006
a0001c0001t0003g0022
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0101
a0001c0001t0007g0105
 25 HG00099.hp2
HG00323.hp1
HG00642.hp2
others(22): Show 
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG01099.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG02257.hp2
HG02572.hp2
HG02602.hp1
HG02698.hp1
HG02738.hp2
HG03017.hp2
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18953.hp2
NA18973.hp2
NA19074.hp2
NA19086.hp1
 intron_variant MODIFIER c.254-6899_254-6898i
others(7): Show 
c.254-6899_254-6898insGTTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACAACAC
AACAACAC
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 3 HG01074.hp2
HG01891.hp1
HG03225.hp2
HG01074.hp2
HG01891.hp1
HG03225.hp2
 intron_variant MODIFIER c.254-6899_254-6898i
others(9): Show 
c.254-6899_254-6898insGTGTTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACAACAC
others(4): Show 
AACAACACACAC
 1 a0001c0001t0001g0104
a0001c0001t0001g0104
 1 HG03453.hp2
HG03453.hp2
 intron_variant MODIFIER c.254-6899_254-6898i
others(13): Show 
c.254-6899_254-6898insGTGTGTGTTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACAC
AACAC
 15 a0001c0001t0001g0008
a0001c0001t0001g0024
a0001c0001t0001g0033
others(12): Show 
a0001c0001t0001g0008
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0085
a0001c0001t0001g0097
a0001c0001t0001g0099
a0001c0001t0001g0113
a0001c0001t0002g0017
a0001c0001t0002g0044
a0001c0001t0002g0118
a0001c0001t0002g0130
a0001c0001t0003g0092
 34 HG00642.hp1
HG01109.hp2
HG01175.hp1
others(31): Show 
HG00642.hp1
HG01109.hp2
HG01175.hp1
HG01433.hp2
HG01891.hp2
HG01928.hp2
HG01975.hp2
HG02055.hp2
HG02083.hp2
HG02109.hp2
HG02145.hp2
HG02148.hp1
HG02280.hp1
HG02486.hp2
HG02615.hp1
HG02630.hp2
HG02647.hp2
HG02717.hp1
HG02809.hp1
HG02886.hp1
HG02965.hp2
HG03041.hp1
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03471.hp2
HG03834.hp1
HG04184.hp1
HG04199.hp1
NA18522.hp2
NA18983.hp2
NA19030.hp1
NA20129.hp1
NA20300.hp1
 intron_variant MODIFIER c.254-6902_254-6899d
others(6): Show 
c.254-6902_254-6899dupGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACACAC
AACACAC
 6 a0001c0001t0001g0028
a0001c0001t0001g0032
a0001c0001t0001g0038
others(3): Show 
a0001c0001t0001g0028
a0001c0001t0001g0032
a0001c0001t0001g0038
a0001c0001t0001g0117
a0001c0001t0002g0015
a0001c0001t0002g0016
 18 HG00099.hp1
HG00423.hp1
HG00597.hp2
others(15): Show 
HG00099.hp1
HG00423.hp1
HG00597.hp2
HG01069.hp2
HG01071.hp1
HG01358.hp2
HG01928.hp1
HG02071.hp2
HG02132.hp2
HG02273.hp1
HG02615.hp2
HG02622.hp1
HG03239.hp1
HG04199.hp2
NA18940.hp1
NA19063.hp2
NA20805.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.254-6904_254-6899d
others(8): Show 
c.254-6904_254-6899dupGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACACACA
others(1): Show 
AACACACAC
 5 a0001c0001t0001g0021
a0001c0001t0002g0030
a0001c0001t0003g0020
others(2): Show 
a0001c0001t0001g0021
a0001c0001t0002g0030
a0001c0001t0003g0020
a0001c0001t0003g0091
a0001c0001t0003g0096
 13 HG00735.hp2
HG00741.hp1
HG01099.hp2
others(10): Show 
HG00735.hp2
HG00741.hp1
HG01099.hp2
HG01884.hp2
HG01975.hp1
HG02559.hp2
HG02809.hp2
HG02922.hp2
HG03209.hp1
HG03516.hp2
NA18747.hp1
NA19058.hp2
NA21309.hp2
 intron_variant MODIFIER c.254-6906_254-6899d
others(10): Show 
c.254-6906_254-6899dupGTGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACACACA
others(3): Show 
AACACACACAC
 6 a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0100
others(3): Show 
a0001c0001t0001g0087
a0001c0001t0001g0098
a0001c0001t0001g0100
a0001c0001t0001g0138
a0001c0001t0003g0014
a0001c0001t0003g0090
 10 HG02015.hp1
HG02040.hp2
HG02080.hp1
others(7): Show 
HG02015.hp1
HG02040.hp2
HG02080.hp1
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG03139.hp1
HG03669.hp1
NA18978.hp2
NA19079.hp2
 intron_variant MODIFIER c.254-6908_254-6899d
others(12): Show 
c.254-6908_254-6899dupGTGTGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACACACA
others(5): Show 
AACACACACACAC
 4 a0001c0001t0003g0027
a0001c0001t0003g0058
a0001c0001t0003g0089
others(1): Show 
a0001c0001t0003g0027
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0095
 6 HG02572.hp1
HG02683.hp2
NA18943.hp1
others(3): Show 
HG02572.hp1
HG02683.hp2
NA18943.hp1
NA18959.hp2
NA18962.hp2
NA19004.hp2
 intron_variant MODIFIER c.254-6910_254-6899d
others(14): Show 
c.254-6910_254-6899dupGTGTGTGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 A
A
 AACACACA
others(7): Show 
AACACACACACACAC
 2 a0001c0001t0001g0112
a0001c0001t0003g0039
a0001c0001t0001g0112
a0001c0001t0003g0039
 3 NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19043.hp1
NA19060.hp2
NA19065.hp1
 intron_variant MODIFIER c.254-6912_254-6899d
others(16): Show 
c.254-6912_254-6899dupGTGTGTGTGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 AAC
AAC
 A
A
 10 a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
others(7): Show 
a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0140
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
 26 HG00423.hp2
HG00639.hp1
HG01243.hp2
others(23): Show 
HG00423.hp2
HG00639.hp1
HG01243.hp2
HG01884.hp1
HG02056.hp2
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02630.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18951.hp1
NA18973.hp1
NA18975.hp1
NA18989.hp1
NA19007.hp1
NA19057.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp2
 intron_variant MODIFIER c.254-6900_254-6899d
others(4): Show 
c.254-6900_254-6899delGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44150820 AACACACA
others(5): Show 
AACACACACACAC
 A
A
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.254-6910_254-6899d
others(14): Show 
c.254-6910_254-6899delGTGTGTGTGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44150820
chr13:44151098 A
A
 G
G
 1 a0001c0001t0001g0083
a0001c0001t0001g0083
 1 NA19068.hp1
NA19068.hp1
 intron_variant MODIFIER c.254-7176T>C
c.254-7176T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151098
chr13:44151109 A
A
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.254-7187T>G
c.254-7187T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151109
chr13:44151134 G
G
 T
T
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 HG02735.hp2
HG02735.hp2
 intron_variant MODIFIER c.254-7212C>A
c.254-7212C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151134
chr13:44151135 T
T
 G
G
 133 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(130): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0057
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 360 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(357): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.254-7213A>C
c.254-7213A>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151135
chr13:44151143 A
A
 T
T
 1 a0001c0001t0001g0132
a0001c0001t0001g0132
 1 HG02976.hp2
HG02976.hp2
 intron_variant MODIFIER c.254-7221T>A
c.254-7221T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151143
chr13:44151276 T
T
 C
C
 1 a0001c0001t0001g0036
a0001c0001t0001g0036
 2 NA18982.hp2
NA18984.hp2
NA18982.hp2
NA18984.hp2
 intron_variant MODIFIER c.254-7354A>G
c.254-7354A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151276
chr13:44151655 C
C
 T
T
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.254-7733G>A
c.254-7733G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151655
chr13:44151846 G
G
 A
A
 1 a0001c0001t0002g0127
a0001c0001t0002g0127
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.254-7924C>T
c.254-7924C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151846
chr13:44151911 T
T
 A
A
 1 a0001c0001t0001g0103
a0001c0001t0001g0103
 1 HG03579.hp1
HG03579.hp1
 intron_variant MODIFIER c.254-7989A>T
c.254-7989A>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44151911
chr13:44152296 C
C
 T
T
 1 a0001c0001t0001g0076
a0001c0001t0001g0076
 1 NA19062.hp2
NA19062.hp2
 intron_variant MODIFIER c.253+8307G>A
c.253+8307G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152296
chr13:44152317 T
T
 C
C
 95 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0021
others(92): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
 228 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(225): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp2
NA18942.hp1
NA18943.hp1
NA18947.hp1
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18959.hp2
NA18962.hp2
NA18966.hp2
NA18971.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18978.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19004.hp2
NA19005.hp2
NA19007.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19055.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19079.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+8286A>G
c.253+8286A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152317
chr13:44152431 C
C
 G
G
 4 a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
others(1): Show 
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
 10 HG00639.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG00639.hp1
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
 intron_variant MODIFIER c.253+8172G>C
c.253+8172G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152431
chr13:44152536 A
A
 G
G
 2 a0001c0001t0002g0045
a0001c0001t0002g0116
a0001c0001t0002g0045
a0001c0001t0002g0116
 3 HG01516.hp1
HG03688.hp2
NA20752.hp2
HG01516.hp1
HG03688.hp2
NA20752.hp2
 intron_variant MODIFIER c.253+8067T>C
c.253+8067T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152536
chr13:44152592 G
G
 A
A
 2 a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0135
a0001c0001t0002g0136
 2 HG03710.hp2
HG03831.hp1
HG03710.hp2
HG03831.hp1
 intron_variant MODIFIER c.253+8011C>T
c.253+8011C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152592
chr13:44152695 G
G
 C
C
 1 a0001c0001t0002g0128
a0001c0001t0002g0128
 1 NA19078.hp2
NA19078.hp2
 intron_variant MODIFIER c.253+7908C>G
c.253+7908C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152695
chr13:44152823 G
G
 A
A
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
 13 HG01891.hp2
HG01975.hp2
HG02145.hp2
others(10): Show 
HG01891.hp2
HG01975.hp2
HG02145.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.253+7780C>T
c.253+7780C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44152823
chr13:44153316 GTGTAGCT
others(1): Show 
GTGTAGCTC
 G
G
 132 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 359 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(356): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+7279_253+7286d
others(10): Show 
c.253+7279_253+7286delGAGCTACA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153316
chr13:44153471 C
C
 G
G
 128 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(125): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 349 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(346): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+7132G>C
c.253+7132G>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153471
chr13:44153593 G
G
 A
A
 1 a0001c0001t0001g0108
a0001c0001t0001g0108
 1 HG03486.hp1
HG03486.hp1
 intron_variant MODIFIER c.253+7010C>T
c.253+7010C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153593
chr13:44153596 G
G
 A
A
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.253+7007C>T
c.253+7007C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153596
chr13:44153748 C
C
 CT
CT
 2 a0001c0001t0001g0024
a0001c0001t0001g0097
a0001c0001t0001g0024
a0001c0001t0001g0097
 5 HG02055.hp2
HG02109.hp2
HG02717.hp1
others(2): Show 
HG02055.hp2
HG02109.hp2
HG02717.hp1
HG03041.hp1
HG03195.hp1
 intron_variant MODIFIER c.253+6854dupA
c.253+6854dupA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153748
chr13:44153805 C
C
 A
A
 1 a0001c0001t0002g0129
a0001c0001t0002g0129
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.253+6798G>T
c.253+6798G>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153805
chr13:44153859 G
G
 A
A
 6 a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0140
 16 HG00423.hp2
HG01243.hp2
HG02056.hp2
others(13): Show 
HG00423.hp2
HG01243.hp2
HG02056.hp2
HG02630.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18951.hp1
NA18973.hp1
NA18975.hp1
NA18989.hp1
NA19007.hp1
NA19057.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp2
 intron_variant MODIFIER c.253+6744C>T
c.253+6744C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44153859
chr13:44154000 C
C
 T
T
 1 a0001c0001t0001g0111
a0001c0001t0001g0111
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.253+6603G>A
c.253+6603G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154000
chr13:44154099 A
A
 G
G
 1 a0001c0001t0001g0064
a0001c0001t0001g0064
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.253+6504T>C
c.253+6504T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154099
chr13:44154369 C
C
 T
T
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.253+6234G>A
c.253+6234G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154369
chr13:44154431 G
G
 T
T
 132 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(129): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 359 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(356): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+6172C>A
c.253+6172C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154431
chr13:44154528 GCACA
GCACA
 G
G
 4 a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
others(1): Show 
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
 10 HG00639.hp1
HG01884.hp1
HG02109.hp1
others(7): Show 
HG00639.hp1
HG01884.hp1
HG02109.hp1
HG02451.hp2
HG02559.hp1
HG02896.hp2
HG02897.hp1
HG02976.hp1
HG03209.hp2
HG03471.hp1
 intron_variant MODIFIER c.253+6071_253+6074d
others(6): Show 
c.253+6071_253+6074delTGTG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154528
chr13:44154530 A
A
 G
G
 1 a0001c0001t0002g0044
a0001c0001t0002g0044
 2 HG04184.hp1
NA20300.hp1
HG04184.hp1
NA20300.hp1
 intron_variant MODIFIER c.253+6073T>C
c.253+6073T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154530
chr13:44154554 A
A
 T
T
 11 a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
others(8): Show 
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0111
a0001c0001t0001g0132
 20 HG00099.hp1
HG00735.hp2
HG00741.hp1
others(17): Show 
HG00099.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01099.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
NA19030.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.253+6049T>A
c.253+6049T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154554
chr13:44154555 CA
CA
 C
C
 11 a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
others(8): Show 
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0111
a0001c0001t0001g0132
 20 HG00099.hp1
HG00735.hp2
HG00741.hp1
others(17): Show 
HG00099.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01099.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
NA19030.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.253+6047delT
c.253+6047delT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154555
chr13:44154556 A
A
 T
T
 66 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0029
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0099
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0138
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
 162 HG00099.hp2
HG00140.hp2
HG00323.hp1
others(159): Show 
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18943.hp1
NA18947.hp1
NA18950.hp2
NA18953.hp2
NA18962.hp2
NA18971.hp1
NA18973.hp2
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+6047T>A
c.253+6047T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154556
chr13:44154557 C
C
 CT
CT
 66 a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0029
others(63): Show 
a0001c0001t0001g0008
a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0099
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0138
a0001c0001t0002g0002
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
 162 HG00099.hp2
HG00140.hp2
HG00323.hp1
others(159): Show 
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG02071.hp2
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG03017.hp1
HG03017.hp2
HG03139.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp1
NA18943.hp1
NA18947.hp1
NA18950.hp2
NA18953.hp2
NA18962.hp2
NA18971.hp1
NA18973.hp2
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA19004.hp2
NA19009.hp2
NA19030.hp2
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19086.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+6045_253+6046i
others(3): Show 
c.253+6045_253+6046insA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154557
chr13:44154557 C
C
 CTCT
CTCT
 10 a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0083
others(7): Show 
a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0083
a0001c0001t0001g0100
a0001c0001t0001g0109
a0001c0001t0001g0112
a0001c0001t0001g0131
a0001c0001t0001g0134
a0001c0001t0002g0005
a0001c0001t0002g0130
 30 HG00423.hp2
HG01167.hp1
HG01169.hp1
others(27): Show 
HG00423.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01243.hp2
HG02027.hp1
HG02056.hp2
HG02074.hp1
HG02135.hp2
HG02280.hp2
HG02723.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp2
NA18951.hp1
NA18973.hp1
NA18975.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18989.hp1
NA18999.hp2
NA19007.hp1
NA19043.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp1
 intron_variant MODIFIER c.253+6045_253+6046i
others(5): Show 
c.253+6045_253+6046insAGA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154557
chr13:44154557 C
C
 T
T
 11 a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
others(8): Show 
a0001c0001t0001g0021
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0082
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0111
a0001c0001t0001g0132
 20 HG00099.hp1
HG00735.hp2
HG00741.hp1
others(17): Show 
HG00099.hp1
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01099.hp2
HG01981.hp2
HG02055.hp2
HG02109.hp2
HG02280.hp1
HG02717.hp1
HG02723.hp1
HG02818.hp1
HG02976.hp2
HG03041.hp1
HG03195.hp1
HG03453.hp1
NA19030.hp1
NA19057.hp1
NA21309.hp2
 intron_variant MODIFIER c.253+6046G>A
c.253+6046G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154557
chr13:44154558 A
A
 ACACACAC
others(6): Show 
ACACACACACTCTT
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.253+6044_253+6045i
others(15): Show 
c.253+6044_253+6045insAAGAGTGTGTGTG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154558
chr13:44154558 A
A
 ACACACTC
others(2): Show 
ACACACTCTT
 1 a0001c0001t0001g0009
a0001c0001t0001g0009
 7 HG02257.hp1
HG02451.hp1
HG02818.hp2
others(4): Show 
HG02257.hp1
HG02451.hp1
HG02818.hp2
HG02922.hp1
HG03139.hp2
NA18950.hp1
NA19043.hp2
 intron_variant MODIFIER c.253+6044_253+6045i
others(11): Show 
c.253+6044_253+6045insAAGAGTGTG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154558
chr13:44154558 A
A
 ACACTCTT
ACACTCTT
 6 a0001c0001t0001g0007
a0001c0001t0001g0026
a0001c0001t0001g0037
others(3): Show 
a0001c0001t0001g0007
a0001c0001t0001g0026
a0001c0001t0001g0037
a0001c0001t0002g0018
a0001c0001t0003g0014
a0001c0001t0003g0095
 25 HG01109.hp1
HG01361.hp2
HG02015.hp1
others(22): Show 
HG01109.hp1
HG01361.hp2
HG02015.hp1
HG02015.hp2
HG02040.hp2
HG02056.hp1
HG02080.hp1
HG03098.hp2
HG03486.hp2
HG03540.hp1
HG03540.hp2
HG03831.hp2
HG04184.hp2
NA18942.hp1
NA18947.hp2
NA18959.hp2
NA18971.hp2
NA18978.hp2
NA18988.hp2
NA19005.hp2
NA19055.hp1
NA19055.hp2
NA19058.hp1
NA19079.hp2
NA20805.hp1
 intron_variant MODIFIER c.253+6044_253+6045i
others(9): Show 
c.253+6044_253+6045insAAGAGTG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154558
chr13:44154558 A
A
 ACTCTT
ACTCTT
 33 a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0019
others(30): Show 
a0001c0001t0001g0001
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0084
a0001c0001t0001g0140
a0001c0001t0002g0034
a0001c0001t0003g0013
a0001c0001t0003g0067
a0001c0001t0008g0079
 104 HG00140.hp1
HG00423.hp1
HG00544.hp1
others(101): Show 
HG00140.hp1
HG00423.hp1
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01496.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02258.hp1
HG02273.hp2
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG03041.hp2
HG03239.hp2
HG03490.hp1
HG03492.hp2
HG03710.hp1
HG03927.hp1
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18951.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18972.hp1
NA18972.hp2
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19057.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
 intron_variant MODIFIER c.253+6044_253+6045i
others(7): Show 
c.253+6044_253+6045insAAGAG
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154558
chr13:44154558 A
A
 T
T
 87 a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0021
others(84): Show 
a0001c0001t0001g0004
a0001c0001t0001g0008
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
 212 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(209): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG01069.hp1
HG01069.hp2
HG01070.hp2
HG01071.hp1
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01243.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02027.hp1
HG02055.hp2
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18522.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18943.hp1
NA18947.hp1
NA18950.hp2
NA18951.hp1
NA18953.hp2
NA18962.hp2
NA18971.hp1
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19004.hp2
NA19007.hp1
NA19009.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19057.hp1
NA19058.hp2
NA19060.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+6045T>A
c.253+6045T>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154558
chr13:44154789 G
G
 A
A
 1 a0001c0001t0003g0096
a0001c0001t0003g0096
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.253+5814C>T
c.253+5814C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154789
chr13:44154808 C
C
 A
A
 2 a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0074
a0001c0001t0001g0075
 2 NA18990.hp2
NA19072.hp1
NA18990.hp2
NA19072.hp1
 intron_variant MODIFIER c.253+5795G>T
c.253+5795G>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44154808
chr13:44155028 T
T
 C
C
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.253+5575A>G
c.253+5575A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155028
chr13:44155089 C
C
 T
T
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.253+5514G>A
c.253+5514G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155089
chr13:44155221 A
A
 C
C
 1 a0001c0001t0002g0115
a0001c0001t0002g0115
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.253+5382T>G
c.253+5382T>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155221
chr13:44155254 G
G
 T
T
 1 a0001c0003t0005g0056
a0001c0003t0005g0056
 1 HG02886.hp2
HG02886.hp2
 intron_variant MODIFIER c.253+5349C>A
c.253+5349C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155254
chr13:44155543 G
G
 A
A
 2 a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0102
a0001c0001t0001g0103
 2 HG03579.hp1
NA21309.hp1
HG03579.hp1
NA21309.hp1
 intron_variant MODIFIER c.253+5060C>T
c.253+5060C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155543
chr13:44155661 G
G
 A
A
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.253+4942C>T
c.253+4942C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155661
chr13:44155923 C
C
 T
T
 39 a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0117
others(36): Show 
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0123
a0001c0001t0006g0122
 114 HG00140.hp2
HG00323.hp2
HG00609.hp2
others(111): Show 
HG00140.hp2
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00733.hp1
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01074.hp1
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01981.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02165.hp2
HG02273.hp1
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp2
HG02735.hp1
HG02895.hp1
HG02897.hp2
HG02965.hp1
HG03017.hp1
HG03239.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03710.hp2
HG03831.hp1
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04228.hp1
NA18747.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18966.hp2
NA18971.hp1
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19055.hp1
NA19058.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp2
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+4680G>A
c.253+4680G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155923
chr13:44155956 G
G
 C
C
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.253+4647C>G
c.253+4647C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44155956
chr13:44156060 G
G
 A
A
 1 a0001c0001t0002g0133
a0001c0001t0002g0133
 1 HG01106.hp2
HG01106.hp2
 intron_variant MODIFIER c.253+4543C>T
c.253+4543C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156060
chr13:44156092 C
C
 T
T
 128 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(125): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 349 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(346): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+4511G>A
c.253+4511G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156092
chr13:44156098 C
C
 T
T
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.253+4505G>A
c.253+4505G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156098
chr13:44156194 A
A
 G
G
 1 a0001c0001t0004g0050
a0001c0001t0004g0050
 1 HG02976.hp1
HG02976.hp1
 intron_variant MODIFIER c.253+4409T>C
c.253+4409T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156194
chr13:44156316 C
C
 T
T
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.253+4287G>A
c.253+4287G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156316
chr13:44156404 C
C
 T
T
 2 a0001c0001t0003g0022
a0001c0001t0003g0101
a0001c0001t0003g0022
a0001c0001t0003g0101
 5 HG00323.hp1
HG01099.hp1
HG01515.hp2
others(2): Show 
HG00323.hp1
HG01099.hp1
HG01515.hp2
HG03704.hp1
HG03834.hp2
 intron_variant MODIFIER c.253+4199G>A
c.253+4199G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156404
chr13:44156438 T
T
 A
A
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.253+4165A>T
c.253+4165A>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156438
chr13:44156482 G
G
 A
A
 1 a0001c0001t0003g0041
a0001c0001t0003g0041
 2 HG00642.hp2
HG01433.hp1
HG00642.hp2
HG01433.hp1
 intron_variant MODIFIER c.253+4121C>T
c.253+4121C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156482
chr13:44156512 C
C
 T
T
 1 a0001c0001t0004g0049
a0001c0001t0004g0049
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.253+4091G>A
c.253+4091G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156512
chr13:44156537 G
G
 C
C
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.253+4066C>G
c.253+4066C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156537
chr13:44156643 G
G
 C
C
 1 a0001c0001t0002g0055
a0001c0001t0002g0055
 1 NA18947.hp1
NA18947.hp1
 intron_variant MODIFIER c.253+3960C>G
c.253+3960C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156643
chr13:44156708 T
T
 C
C
 1 a0001c0001t0001g0110
a0001c0001t0001g0110
 1 HG02257.hp2
HG02257.hp2
 intron_variant MODIFIER c.253+3895A>G
c.253+3895A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156708
chr13:44156709 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.253+3894G>A
c.253+3894G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156709
chr13:44156916 G
G
 A
A
 17 a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0102
others(14): Show 
a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0134
a0001c0001t0003g0006
a0001c0001t0003g0022
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0101
a0001c0001t0007g0105
 36 HG00099.hp2
HG00323.hp1
HG00642.hp2
others(33): Show 
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG01074.hp2
HG01099.hp1
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01891.hp1
HG02257.hp2
HG02258.hp2
HG02280.hp2
HG02572.hp2
HG02602.hp1
HG02698.hp1
HG02738.hp2
HG02896.hp1
HG03017.hp2
HG03225.hp2
HG03453.hp2
HG03486.hp1
HG03579.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18953.hp2
NA18973.hp2
NA19074.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
 intron_variant MODIFIER c.253+3687C>T
c.253+3687C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156916
chr13:44156926 C
C
 T
T
 44 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(41): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0003g0006
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0137
a0001c0001t0007g0105
 82 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18943.hp1
NA18953.hp2
NA18959.hp2
NA18962.hp2
NA18973.hp2
NA18978.hp2
NA19004.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.253+3677G>A
c.253+3677G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44156926
chr13:44157180 A
A
 G
G
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.253+3423T>C
c.253+3423T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157180
chr13:44157332 C
C
 T
T
 1 a0001c0001t0001g0062
a0001c0001t0001g0062
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.253+3271G>A
c.253+3271G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157332
chr13:44157410 G
G
 T
T
 1 a0001c0001t0001g0114
a0001c0001t0001g0114
 1 NA19030.hp2
NA19030.hp2
 intron_variant MODIFIER c.253+3193C>A
c.253+3193C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157410
chr13:44157452 G
G
 A
A
 39 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(36): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0140
a0001c0001t0002g0034
a0001c0001t0003g0013
a0001c0001t0003g0067
a0001c0001t0008g0079
 137 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(134): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.253+3151C>T
c.253+3151C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157452
chr13:44157452 G
G
 T
T
 15 a0001c0001t0001g0138
a0001c0001t0003g0014
a0001c0001t0003g0020
others(12): Show 
a0001c0001t0001g0138
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0137
 25 HG01884.hp2
HG02015.hp1
HG02040.hp2
others(22): Show 
HG01884.hp2
HG02015.hp1
HG02040.hp2
HG02080.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02647.hp1
HG02683.hp2
HG02809.hp2
HG02895.hp2
HG02922.hp2
HG03139.hp1
HG03209.hp1
HG03516.hp1
HG03516.hp2
HG03669.hp1
NA18943.hp1
NA18959.hp2
NA18962.hp2
NA18978.hp2
NA19004.hp2
NA19060.hp2
NA19065.hp1
NA19079.hp2
 intron_variant MODIFIER c.253+3151C>A
c.253+3151C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157452
chr13:44157550 T
T
 C
C
 1 a0001c0001t0001g0111
a0001c0001t0001g0111
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.253+3053A>G
c.253+3053A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157550
chr13:44157550 T
T
 TAC
TAC
 54 a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0076
others(51): Show 
a0001c0001t0001g0023
a0001c0001t0001g0029
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0003g0006
a0001c0001t0003g0022
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0123
a0001c0001t0006g0122
a0001c0001t0007g0105
 146 HG00099.hp2
HG00140.hp2
HG00323.hp1
others(143): Show 
HG00099.hp2
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00738.hp1
HG00738.hp2
HG01070.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp2
HG01167.hp1
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01256.hp1
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp2
HG01361.hp1
HG01433.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG02015.hp2
HG02027.hp1
HG02056.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp2
HG02083.hp2
HG02129.hp2
HG02132.hp2
HG02135.hp2
HG02148.hp1
HG02165.hp2
HG02257.hp2
HG02258.hp2
HG02273.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02486.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02683.hp1
HG02698.hp1
HG02698.hp2
HG02735.hp1
HG02738.hp2
HG02895.hp1
HG02896.hp1
HG02897.hp2
HG02965.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp2
HG03225.hp2
HG03239.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03831.hp1
HG03834.hp2
HG03942.hp1
HG04184.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18942.hp1
NA18947.hp1
NA18950.hp2
NA18953.hp2
NA18966.hp2
NA18971.hp1
NA18973.hp2
NA18983.hp2
NA18985.hp2
NA18986.hp1
NA18987.hp2
NA18988.hp1
NA18989.hp2
NA18991.hp1
NA18999.hp2
NA19005.hp2
NA19009.hp2
NA19030.hp2
NA19055.hp1
NA19058.hp2
NA19062.hp2
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19074.hp1
NA19074.hp2
NA19077.hp1
NA19078.hp2
NA19080.hp2
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+3051_253+3052d
others(4): Show 
c.253+3051_253+3052dupGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157550
chr13:44157550 T
T
 TACAC
TACAC
 2 a0001c0001t0002g0031
a0001c0001t0002g0139
a0001c0001t0002g0031
a0001c0001t0002g0139
 4 HG01069.hp1
HG01256.hp2
HG01515.hp1
others(1): Show 
HG01069.hp1
HG01256.hp2
HG01515.hp1
HG01981.hp1
 intron_variant MODIFIER c.253+3049_253+3052d
others(6): Show 
c.253+3049_253+3052dupGTGT
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157550
chr13:44157579 A
A
 G
G
 1 a0001c0001t0001g0081
a0001c0001t0001g0081
 1 NA18989.hp1
NA18989.hp1
 intron_variant MODIFIER c.253+3024T>C
c.253+3024T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157579
chr13:44157792 G
G
 A
A
 2 a0001c0001t0001g0010
a0001c0001t0008g0079
a0001c0001t0001g0010
a0001c0001t0008g0079
 7 NA18960.hp2
NA18962.hp1
NA18972.hp2
others(4): Show 
NA18960.hp2
NA18962.hp1
NA18972.hp2
NA18975.hp2
NA18986.hp2
NA19072.hp2
NA19081.hp1
 intron_variant MODIFIER c.253+2811C>T
c.253+2811C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157792
chr13:44157956 T
T
 C
C
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.253+2647A>G
c.253+2647A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44157956
chr13:44158161 T
T
 C
C
 1 a0001c0001t0001g0113
a0001c0001t0001g0113
 1 HG03834.hp1
HG03834.hp1
 intron_variant MODIFIER c.253+2442A>G
c.253+2442A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158161
chr13:44158194 C
C
 A
A
 127 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(124): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0055
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 348 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(345): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp1
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+2409G>T
c.253+2409G>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158194
chr13:44158440 C
C
 T
T
 3 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0043
 13 HG01891.hp2
HG01975.hp2
HG02145.hp2
others(10): Show 
HG01891.hp2
HG01975.hp2
HG02145.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.253+2163G>A
c.253+2163G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158440
chr13:44158510 T
T
 C
C
 1 a0001c0001t0001g0112
a0001c0001t0001g0112
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.253+2093A>G
c.253+2093A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158510
chr13:44158542 C
C
 A
A
 1 a0001c0001t0003g0042
a0001c0001t0003g0042
 2 HG02738.hp2
HG03017.hp2
HG02738.hp2
HG03017.hp2
 intron_variant MODIFIER c.253+2061G>T
c.253+2061G>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158542
chr13:44158916 C
C
 T
T
 44 a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
others(41): Show 
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0040
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0003g0006
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0137
a0001c0001t0007g0105
 82 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(79): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00642.hp2
HG00733.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01071.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01346.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01884.hp2
HG01891.hp1
HG01981.hp2
HG02015.hp1
HG02040.hp2
HG02055.hp2
HG02080.hp1
HG02109.hp2
HG02257.hp2
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02615.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02698.hp1
HG02717.hp1
HG02723.hp1
HG02723.hp2
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02895.hp2
HG02896.hp1
HG02922.hp2
HG03017.hp2
HG03041.hp1
HG03139.hp1
HG03195.hp1
HG03209.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03516.hp1
HG03516.hp2
HG03579.hp1
HG03669.hp1
HG03704.hp1
HG03834.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp1
NA18906.hp1
NA18943.hp1
NA18953.hp2
NA18959.hp2
NA18962.hp2
NA18973.hp2
NA18978.hp2
NA19004.hp2
NA19030.hp1
NA19043.hp1
NA19060.hp2
NA19065.hp1
NA19074.hp2
NA19079.hp2
NA19086.hp1
NA19240.hp1
NA21309.hp1
NA21309.hp2
 intron_variant MODIFIER c.253+1687G>A
c.253+1687G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158916
chr13:44158985 G
G
 A
A
 1 a0001c0001t0001g0134
a0001c0001t0001g0134
 1 NA19240.hp1
NA19240.hp1
 intron_variant MODIFIER c.253+1618C>T
c.253+1618C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44158985
chr13:44159157 T
T
 C
C
 2 a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0135
a0001c0001t0002g0136
 2 HG03710.hp2
HG03831.hp1
HG03710.hp2
HG03831.hp1
 intron_variant MODIFIER c.253+1446A>G
c.253+1446A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159157
chr13:44159343 G
G
 C
C
 1 a0001c0001t0003g0137
a0001c0001t0003g0137
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.253+1260C>G
c.253+1260C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159343
chr13:44159369 C
C
 T
T
 1 a0001c0001t0002g0088
a0001c0001t0002g0088
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.253+1234G>A
c.253+1234G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159369
chr13:44159439 A
A
 G
G
 131 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 358 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(355): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+1164T>C
c.253+1164T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159439
chr13:44159641 C
C
 T
T
 1 a0001c0001t0001g0061
a0001c0001t0001g0061
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.253+962G>A
c.253+962G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159641
chr13:44159741 C
C
 T
T
 131 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(128): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0004g0012
a0001c0001t0004g0025
a0001c0001t0004g0049
a0001c0001t0004g0050
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 358 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(355): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.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.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.253+862G>A
c.253+862G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159741
chr13:44159742 G
G
 T
T
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 NA19080.hp1
NA19080.hp1
 intron_variant MODIFIER c.253+861C>A
c.253+861C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159742
chr13:44159770 G
G
 A
A
 1 a0001c0001t0001g0138
a0001c0001t0001g0138
 1 HG03139.hp1
HG03139.hp1
 intron_variant MODIFIER c.253+833C>T
c.253+833C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159770
chr13:44159811 T
T
 C
C
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.253+792A>G
c.253+792A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159811
chr13:44159911 G
G
 A
A
 1 a0001c0001t0001g0080
a0001c0001t0001g0080
 1 HG02071.hp1
HG02071.hp1
 intron_variant MODIFIER c.253+692C>T
c.253+692C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159911
chr13:44159987 G
G
 A
A
 6 a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0140
 16 HG00423.hp2
HG01243.hp2
HG02056.hp2
others(13): Show 
HG00423.hp2
HG01243.hp2
HG02056.hp2
HG02630.hp1
NA18939.hp1
NA18940.hp2
NA18941.hp2
NA18951.hp1
NA18973.hp1
NA18975.hp1
NA18989.hp1
NA19007.hp1
NA19057.hp1
NA19065.hp2
NA19068.hp1
NA19077.hp2
 intron_variant MODIFIER c.253+616C>T
c.253+616C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44159987
chr13:44160209 C
C
 T
T
 1 a0001c0001t0001g0087
a0001c0001t0001g0087
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.253+394G>A
c.253+394G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160209
chr13:44160251 GT
GT
 G
G
 1 a0001c0001t0001g0024
a0001c0001t0001g0024
 4 HG02055.hp2
HG02109.hp2
HG02717.hp1
others(1): Show 
HG02055.hp2
HG02109.hp2
HG02717.hp1
HG03041.hp1
 intron_variant MODIFIER c.253+351delA
c.253+351delA
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160251
chr13:44160306 A
A
 G
G
 1 a0001c0001t0002g0086
a0001c0001t0002g0086
 1 NA19064.hp1
NA19064.hp1
 intron_variant MODIFIER c.253+297T>C
c.253+297T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160306
chr13:44160310 C
C
 T
T
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 HG00597.hp1
HG00597.hp1
 intron_variant MODIFIER c.253+293G>A
c.253+293G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160310
chr13:44160398 G
G
 T
T
 2 a0001c0001t0001g0008
a0001c0001t0001g0038
a0001c0001t0001g0008
a0001c0001t0001g0038
 11 HG01891.hp2
HG01975.hp2
HG02486.hp2
others(8): Show 
HG01891.hp2
HG01975.hp2
HG02486.hp2
HG02615.hp2
HG02622.hp1
HG02886.hp1
HG02965.hp2
HG03225.hp1
HG03471.hp2
NA18522.hp2
NA20129.hp1
 intron_variant MODIFIER c.253+205C>A
c.253+205C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160398
chr13:44160508 T
T
 C
C
 1 a0001c0001t0002g0139
a0001c0001t0002g0139
 1 HG01256.hp2
HG01256.hp2
 intron_variant MODIFIER c.253+95A>G
c.253+95A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160508
chr13:44160529 C
C
 T
T
 1 a0001c0001t0001g0085
a0001c0001t0001g0085
 1 HG02280.hp1
HG02280.hp1
 intron_variant MODIFIER c.253+74G>A
c.253+74G>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160529
chr13:44160560 A
A
 G
G
 41 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(38): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0026
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0140
a0001c0001t0002g0034
a0001c0001t0003g0013
a0001c0001t0003g0067
a0001c0001t0008g0079
 139 HG00140.hp1
HG00423.hp1
HG00423.hp2
others(136): Show 
HG00140.hp1
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00741.hp2
HG01070.hp1
HG01071.hp2
HG01081.hp2
HG01109.hp1
HG01167.hp2
HG01175.hp1
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01358.hp1
HG01361.hp2
HG01496.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02056.hp2
HG02071.hp1
HG02074.hp2
HG02083.hp1
HG02129.hp1
HG02132.hp1
HG02135.hp1
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp1
HG02257.hp1
HG02258.hp1
HG02273.hp2
HG02451.hp1
HG02523.hp1
HG02523.hp2
HG02630.hp1
HG02717.hp2
HG02738.hp1
HG02818.hp2
HG02922.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp2
HG03239.hp2
HG03486.hp2
HG03490.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03710.hp1
HG03831.hp2
HG03927.hp1
HG04184.hp2
HG04199.hp1
HG06807.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18939.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18957.hp2
NA18959.hp1
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18975.hp1
NA18975.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18986.hp2
NA18987.hp1
NA18988.hp2
NA18989.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA19004.hp1
NA19005.hp1
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp2
NA19078.hp1
NA19079.hp1
NA19080.hp1
NA19081.hp1
NA20129.hp2
NA20805.hp1
 intron_variant MODIFIER c.253+43T>C
c.253+43T>C
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 2/2 chr13 44160560
chr13:44160939 G
G
 C
C
 1 a0001c0001t0001g0057
a0001c0001t0001g0057
 1 HG02809.hp1
HG02809.hp1
 splice_region_variant&intron_variant LOW c.-76-8C>G
c.-76-8C>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 1/2 chr13 44160939
chr13:44160982 G
G
 T
T
 1 a0001c0001t0003g0058
a0001c0001t0003g0058
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.-76-51C>A
c.-76-51C>A
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 1/2 chr13 44160982
chr13:44161099 G
G
 A
A
 1 a0001c0001t0001g0140
a0001c0001t0001g0140
 1 HG02630.hp1
HG02630.hp1
 intron_variant MODIFIER c.-77+46C>T
c.-77+46C>T
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 1/2 chr13 44161099
chr13:44161125 T
T
 C
C
 127 a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
others(124): Show 
a0001c0001t0001g0001
a0001c0001t0001g0004
a0001c0001t0001g0007
a0001c0001t0001g0008
a0001c0001t0001g0009
a0001c0001t0001g0010
a0001c0001t0001g0019
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0032
a0001c0001t0001g0033
a0001c0001t0001g0035
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0038
a0001c0001t0001g0040
a0001c0001t0001g0043
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0061
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0064
a0001c0001t0001g0065
a0001c0001t0001g0066
a0001c0001t0001g0068
a0001c0001t0001g0069
a0001c0001t0001g0070
a0001c0001t0001g0071
a0001c0001t0001g0072
a0001c0001t0001g0073
a0001c0001t0001g0074
a0001c0001t0001g0075
a0001c0001t0001g0076
a0001c0001t0001g0077
a0001c0001t0001g0078
a0001c0001t0001g0080
a0001c0001t0001g0081
a0001c0001t0001g0082
a0001c0001t0001g0083
a0001c0001t0001g0084
a0001c0001t0001g0085
a0001c0001t0001g0087
a0001c0001t0001g0097
a0001c0001t0001g0098
a0001c0001t0001g0099
a0001c0001t0001g0100
a0001c0001t0001g0102
a0001c0001t0001g0103
a0001c0001t0001g0104
a0001c0001t0001g0106
a0001c0001t0001g0107
a0001c0001t0001g0108
a0001c0001t0001g0109
a0001c0001t0001g0110
a0001c0001t0001g0111
a0001c0001t0001g0112
a0001c0001t0001g0113
a0001c0001t0001g0114
a0001c0001t0001g0117
a0001c0001t0001g0131
a0001c0001t0001g0132
a0001c0001t0001g0134
a0001c0001t0001g0138
a0001c0001t0001g0140
a0001c0001t0002g0002
a0001c0001t0002g0005
a0001c0001t0002g0011
a0001c0001t0002g0015
a0001c0001t0002g0016
a0001c0001t0002g0017
a0001c0001t0002g0018
a0001c0001t0002g0030
a0001c0001t0002g0031
a0001c0001t0002g0034
a0001c0001t0002g0044
a0001c0001t0002g0045
a0001c0001t0002g0046
a0001c0001t0002g0047
a0001c0001t0002g0086
a0001c0001t0002g0088
a0001c0001t0002g0115
a0001c0001t0002g0116
a0001c0001t0002g0118
a0001c0001t0002g0119
a0001c0001t0002g0120
a0001c0001t0002g0121
a0001c0001t0002g0124
a0001c0001t0002g0125
a0001c0001t0002g0126
a0001c0001t0002g0127
a0001c0001t0002g0128
a0001c0001t0002g0129
a0001c0001t0002g0130
a0001c0001t0002g0133
a0001c0001t0002g0135
a0001c0001t0002g0136
a0001c0001t0002g0139
a0001c0001t0003g0006
a0001c0001t0003g0013
a0001c0001t0003g0014
a0001c0001t0003g0020
a0001c0001t0003g0022
a0001c0001t0003g0027
a0001c0001t0003g0039
a0001c0001t0003g0041
a0001c0001t0003g0042
a0001c0001t0003g0058
a0001c0001t0003g0067
a0001c0001t0003g0089
a0001c0001t0003g0090
a0001c0001t0003g0091
a0001c0001t0003g0092
a0001c0001t0003g0093
a0001c0001t0003g0094
a0001c0001t0003g0095
a0001c0001t0003g0096
a0001c0001t0003g0101
a0001c0001t0003g0123
a0001c0001t0003g0137
a0001c0001t0006g0122
a0001c0001t0007g0105
a0001c0001t0008g0079
 348 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(345): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp1
HG00423.hp2
HG00544.hp1
HG00544.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00733.hp1
HG00733.hp2
HG00735.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01256.hp1
HG01256.hp2
HG01258.hp1
HG01258.hp2
HG01346.hp1
HG01346.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01975.hp1
HG01975.hp2
HG01981.hp1
HG01981.hp2
HG02015.hp1
HG02015.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02080.hp2
HG02083.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.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
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02698.hp1
HG02698.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02895.hp1
HG02895.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03492.hp2
HG03516.hp1
HG03516.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03710.hp2
HG03831.hp1
HG03831.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG04184.hp1
HG04184.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18947.hp2
NA18950.hp1
NA18950.hp2
NA18951.hp1
NA18951.hp2
NA18953.hp1
NA18953.hp2
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18963.hp2
NA18966.hp1
NA18966.hp2
NA18969.hp1
NA18969.hp2
NA18971.hp1
NA18971.hp2
NA18972.hp1
NA18972.hp2
NA18973.hp1
NA18973.hp2
NA18975.hp1
NA18975.hp2
NA18978.hp2
NA18980.hp1
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18985.hp1
NA18985.hp2
NA18986.hp1
NA18986.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18989.hp1
NA18989.hp2
NA18990.hp1
NA18990.hp2
NA18991.hp1
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19007.hp1
NA19007.hp2
NA19009.hp1
NA19009.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19058.hp1
NA19058.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19064.hp1
NA19064.hp2
NA19065.hp1
NA19065.hp2
NA19068.hp1
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19078.hp1
NA19078.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19086.hp1
NA19086.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
NA20905.hp2
NA21309.hp1
NA21309.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.-77+20A>G
c.-77+20A>G
SMIM2 ENSG00000139656.8 transcript ENST00000400419.2 protein_coding 1/2 chr13 44161125

  • 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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