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ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

  Error connecting to IGV?   RSPH1_chr21_42467486_42501224  RSPH1_chr21_42467486_42501224 (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 89765
ensemblid ENSG00000160188.10
hgncid 12371
symbol RSPH1
name radial spoke head component 1
refseq_nuc NM_080860.4
refseq_prot NP_543136.1
ensembl_nuc ENST00000291536.8
ensembl_prot ENSP00000291536.3
mane_status MANE Select
chr chr21
start 42472486
end 42496224
strand -
ver v1.2
region chr21:42472486-42496224
region5000 chr21:42467486-42501224
regionname0 RSPH1_chr21_42472486_42496224
regionname5000 RSPH1_chr21_42467486_42501224

ahapid grch38/
chm13v2 		alen total AFR AMR EAS EUR SAS JPT regionname genename aa chr start end
a0001 1/1 309 374 84 64 174 13 37 133 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002 0/0 309 21 1 8 2 4 6 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0003 0/0 309 3 0 3 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0004 0/0 309 3 3 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0005 0/0 309 2 0 1 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0006 0/0 309 1 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0007 0/0 309 1 0 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0008 0/0 309 1 0 0 1 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0009 0/0 309 1 0 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0010 0/0 309 1 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224

chapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
c0001 1/1 930 272 73 29 136 8 24 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0002 0/0 930 95 8 32 38 5 12 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0003 0/0 930 20 1 7 2 4 6 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0004 0/0 930 3 3 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0005 0/0 930 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0006 0/0 930 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0007 0/0 930 2 0 1 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0008 0/0 930 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0009 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0010 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0011 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0012 0/0 930 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0013 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0014 0/0 930 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0015 0/0 930 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0016 0/0 930 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0017 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
c0018 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224

thapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
t0001 0/1 371 191 60 43 55 8 24 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0002 0/0 371 110 12 19 61 6 12 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0003 1/0 371 75 15 7 49 1 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0004 0/0 371 18 0 5 8 1 4 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0005 0/0 371 4 0 2 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0006 0/0 371 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0007 0/0 371 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0008 0/0 371 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0009 0/0 371 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0010 0/0 371 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
t0011 0/0 351 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224

ghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
g0001 0/0 5 0 0 5 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0002 0/0 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0003 0/0 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0004 0/0 3 3 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0005 0/0 2 0 0 1 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0006 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0007 0/0 2 0 1 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0008 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0009 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0010 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0011 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0012 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0013 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0014 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0015 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0016 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0017 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0018 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0019 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0020 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0021 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0022 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0023 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0024 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0025 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0026 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0027 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0028 0/0 2 0 0 0 1 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0029 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0030 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0031 0/0 2 0 0 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0032 0/0 2 0 0 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0033 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0034 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0035 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0036 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0037 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0038 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0039 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0040 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0041 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0042 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0043 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0044 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0045 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0046 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0047 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0048 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0049 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0050 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0051 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0052 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0053 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0054 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0055 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0056 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0057 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0058 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0059 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0060 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0061 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0062 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0063 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0064 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0065 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0066 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0067 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0068 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0069 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0070 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0071 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0072 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0073 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0074 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0075 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0076 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0077 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0078 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0079 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0080 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0081 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0082 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0083 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0084 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0085 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0086 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0087 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0088 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0089 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0090 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0091 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0092 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0093 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0094 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0095 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0096 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0097 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0098 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0099 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0100 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0101 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0102 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0103 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0104 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0105 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0106 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0107 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0108 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0109 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0110 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0111 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0112 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0113 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0114 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0115 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0116 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0117 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0118 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0119 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0120 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0121 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0122 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0123 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0124 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0125 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0126 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0127 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0128 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0129 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0130 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0131 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0132 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0133 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0134 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0135 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0136 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0137 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0138 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0139 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0140 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0141 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0142 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0143 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0144 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0145 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0146 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0147 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0148 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0149 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0150 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0151 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0152 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0153 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0154 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0155 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0156 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0157 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0158 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0159 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0160 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0161 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0162 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0163 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0164 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0165 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0166 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0167 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0168 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0169 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0170 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0171 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0172 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0173 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0174 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0175 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0176 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0177 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0178 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0179 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0180 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0181 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0182 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0183 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0184 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0185 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0186 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0187 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0188 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0189 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0190 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0191 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0192 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0193 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0194 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0195 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0196 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0197 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0198 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0199 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0200 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0201 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0202 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0203 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0204 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0205 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0206 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0207 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0208 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0209 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0210 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0211 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0212 1/0 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0213 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0214 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0215 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0216 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0217 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0218 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0219 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0220 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0221 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0222 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0223 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0224 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0225 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0226 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0227 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0228 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0229 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0230 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0231 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0232 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0233 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0234 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0235 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0236 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0237 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0238 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0239 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0240 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0241 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0242 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0243 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0244 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0245 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0246 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0247 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0248 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0249 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0250 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0251 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0252 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0253 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0254 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0255 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0256 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0257 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0258 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0259 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0260 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0261 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0262 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0263 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0264 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0265 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0266 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0267 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0268 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0269 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0270 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0271 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0272 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0273 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0274 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0275 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0276 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0277 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0278 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0279 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0280 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0281 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0282 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0283 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0284 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0285 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0286 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0287 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0288 0/1 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0289 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0290 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0291 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0292 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0293 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0294 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0295 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0296 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0297 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0298 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0299 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0300 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0301 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0302 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0303 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0304 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0305 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0306 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0307 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0308 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0309 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0310 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0311 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0312 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0313 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0314 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0315 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0316 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0317 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0318 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0319 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0320 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0321 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0322 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0323 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0324 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0325 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0326 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0327 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0328 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0329 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0330 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0331 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0332 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0333 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0334 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0335 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0336 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0337 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0338 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0339 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0340 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0341 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0342 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0343 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0344 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0345 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0346 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0347 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0348 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0349 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0350 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0351 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0352 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0353 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0354 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0355 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0356 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0357 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0358 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0359 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0360 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0361 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0362 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0363 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0364 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0365 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0366 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0367 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0368 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
g0369 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224

achapid grch38/
chm13v2 		alen clen total AFR AMR EAS EUR SAS regionname genename cseq chr start end
a0001c0001 1/1 930 272 73 29 136 8 24 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002 0/0 930 95 8 32 38 5 12 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0004 0/0 930 3 3 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0006 0/0 930 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0016 0/0 930 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0017 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002c0003 0/0 930 20 1 7 2 4 6 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002c0011 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0003c0005 0/0 930 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0003c0013 0/0 930 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0004c0008 0/0 930 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0004c0010 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0005c0007 0/0 930 2 0 1 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0006c0018 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0007c0012 0/0 930 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0008c0015 0/0 930 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0009c0014 0/0 930 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0010c0009 0/0 930 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224

acthapid grch38
chm13v2 		tlen total AFR AMR EAS EUR SAS regionname genename tseq chr start end
a0001c0001t0001 0/1 1300 133 49 15 50 3 15 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0002 0/0 1300 47 8 2 29 3 5 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0003 1/0 1300 67 13 7 45 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0004 0/0 1300 12 0 3 8 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0005 0/0 1300 4 0 2 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0006 0/0 1300 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0007 0/0 1300 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0008 0/0 1300 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0010 0/0 1300 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0001t0011 0/0 1280 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002t0001 0/0 1300 24 3 16 2 1 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002t0002 0/0 1300 60 4 14 32 3 7 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002t0003 0/0 1300 5 1 0 3 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002t0004 0/0 1300 5 0 2 0 1 2 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0002t0009 0/0 1300 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0004t0001 0/0 1300 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0004t0003 0/0 1300 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0006t0001 0/0 1300 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0016t0004 0/0 1300 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0001c0017t0001 0/0 1300 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002c0003t0001 0/0 1300 19 1 7 2 3 6 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002c0003t0003 0/0 1300 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0002c0011t0001 0/0 1300 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0003c0005t0002 0/0 1300 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0003c0013t0002 0/0 1300 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0004c0008t0001 0/0 1300 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0004c0010t0001 0/0 1300 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0005c0007t0001 0/0 1300 2 0 1 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0006c0018t0001 0/0 1300 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0007c0012t0001 0/0 1300 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0008c0015t0001 0/0 1300 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0009c0014t0003 0/0 1300 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224
a0010c0009t0001 0/0 1300 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 copy fasta chr21 42467486 42501224

actghapid grch38/
chm13v2 		total AFR AMR EAS EUR SAS regionname genename chr start end
a0001c0001t0001g0003 0/0 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0004 0/0 3 3 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0005 0/0 2 0 0 1 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0018 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0020 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0021 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0023 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0024 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0026 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0028 0/0 2 0 0 0 1 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0029 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0033 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0036 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0037 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0040 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0041 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0042 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0044 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0045 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0048 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0049 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0051 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0052 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0053 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0054 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0056 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0057 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0058 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0059 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0060 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0062 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0063 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0065 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0145 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0146 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0149 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0150 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0154 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0156 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0161 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0166 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0167 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0172 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0173 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0181 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0183 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0185 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0190 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0193 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0195 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0199 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0202 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0206 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0207 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0223 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0225 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0226 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0227 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0228 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0229 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0231 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0232 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0233 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0239 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0240 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0241 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0242 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0244 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0245 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0247 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0248 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0249 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0250 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0251 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0252 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0254 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0255 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0256 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0257 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0258 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0259 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0260 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0263 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0264 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0265 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0266 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0269 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0274 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0275 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0278 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0279 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0280 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0282 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0283 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0285 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0286 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0287 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0288 0/1 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0290 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0300 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0301 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0305 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0307 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0309 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0310 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0311 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0312 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0313 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0317 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0318 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0319 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0321 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0329 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0335 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0359 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0363 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0364 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0367 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0001g0368 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0017 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0022 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0032 0/0 2 0 0 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0050 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0061 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0142 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0143 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0144 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0151 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0152 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0159 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0186 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0197 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0198 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0200 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0201 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0203 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0214 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0219 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0230 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0246 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0284 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0292 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0296 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0297 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0299 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0304 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0316 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0327 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0333 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0334 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0339 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0340 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0341 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0342 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0343 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0348 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0349 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0350 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0351 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0352 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0353 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0355 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0002g0365 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0001 0/0 5 0 0 5 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0002 0/0 3 0 0 3 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0015 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0016 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0019 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0025 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0027 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0030 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0047 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0055 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0064 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0147 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0148 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0162 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0163 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0164 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0165 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0175 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0176 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0177 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0178 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0182 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0184 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0194 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0196 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0204 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0212 1/0 1 0 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0213 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0215 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0220 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0221 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0222 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0224 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0234 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0235 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0236 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0237 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0238 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0243 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0253 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0261 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0267 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0268 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0270 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0271 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0276 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0277 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0281 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0291 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0293 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0295 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0302 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0328 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0361 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0003g0362 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0155 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0158 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0169 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0170 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0171 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0180 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0188 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0192 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0205 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0294 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0338 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0004g0344 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0005g0031 0/0 2 0 0 0 2 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0005g0315 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0005g0320 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0006g0157 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0006g0174 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0006g0179 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0007g0208 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0007g0210 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0008g0306 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0008g0358 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0010g0160 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0001t0011g0034 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0012 0/0 2 2 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0014 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0039 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0069 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0071 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0073 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0083 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0087 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0089 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0090 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0098 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0100 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0109 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0114 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0120 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0121 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0123 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0125 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0130 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0131 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0135 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0001g0137 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0006 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0007 0/0 2 0 1 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0009 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0010 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0011 0/0 2 0 0 2 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0013 0/0 2 0 2 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0035 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0038 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0068 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0070 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0076 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0078 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0079 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0080 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0081 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0082 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0084 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0086 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0088 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0091 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0092 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0093 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0094 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0095 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0096 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0097 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0099 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0101 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0102 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0103 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0104 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0105 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0106 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0107 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0108 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0110 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0111 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0112 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0113 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0115 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0116 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0117 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0122 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0124 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0127 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0128 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0132 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0133 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0134 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0136 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0138 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0139 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0140 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0002g0211 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0003g0067 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0003g0126 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0003g0216 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0003g0217 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0003g0218 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0004g0008 0/0 2 0 0 0 0 2 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0004g0072 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0004g0118 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0004g0141 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0002t0009g0077 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0004t0001g0308 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0004t0001g0357 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0004t0003g0360 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0006t0001g0074 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0006t0001g0075 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0016t0004g0187 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0001c0017t0001g0354 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0043 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0046 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0153 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0168 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0303 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0314 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0322 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0323 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0324 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0325 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0326 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0330 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0331 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0332 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0337 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0345 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0346 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0347 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0001g0356 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0003t0003g0262 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0002c0011t0001g0119 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0003c0005t0002g0085 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0003c0005t0002g0129 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0003c0013t0002g0191 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0004c0008t0001g0272 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0004c0008t0001g0298 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0004c0010t0001g0066 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0005c0007t0001g0209 0/0 1 0 0 0 1 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0005c0007t0001g0336 0/0 1 0 1 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0006c0018t0001g0369 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0007c0012t0001g0273 0/0 1 0 0 0 0 1 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0008c0015t0001g0289 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0009c0014t0003g0189 0/0 1 0 0 1 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
a0010c0009t0001g0366 0/0 1 1 0 0 0 0 RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224

sampleid ID
haplotypeid
 ahapid chapid thapid ghapid gpopname popname regionname genename chr start end
HG00099 hp1 a0002 c0003 t0001 g0314 EUR GBR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00099 hp2 a0001 c0002 t0004 g0072 EUR GBR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00140 hp1 a0001 c0001 t0002 g0327 EUR GBR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00140 hp2 a0001 c0001 t0001 g0028 EUR GBR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00280 hp1 a0001 c0002 t0001 g0073 EUR FIN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00280 hp2 a0001 c0001 t0001 g0166 EUR FIN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00323 hp1 a0001 c0002 t0002 g0132 EUR FIN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00323 hp2 a0001 c0001 t0001 g0335 EUR FIN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00408 hp1 a0001 c0001 t0001 g0054 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00408 hp2 a0001 c0001 t0001 g0058 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00423 hp1 a0001 c0001 t0003 g0177 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00423 hp2 a0001 c0001 t0002 g0198 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00438 hp1 a0001 c0002 t0002 g0099 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00438 hp2 a0001 c0001 t0010 g0160 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00597 hp1 a0001 c0001 t0003 g0194 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00597 hp2 a0001 c0001 t0003 g0281 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00609 hp1 a0001 c0001 t0003 g0220 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00609 hp2 a0001 c0001 t0002 g0186 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00621 hp1 a0001 c0001 t0004 g0158 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00621 hp2 a0009 c0014 t0003 g0189 EAS CHS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00639 hp1 a0001 c0001 t0005 g0320 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00639 hp2 a0001 c0002 t0001 g0014 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00642 hp1 a0001 c0002 t0001 g0014 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00642 hp2 a0001 c0001 t0003 g0025 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00735 hp1 a0001 c0001 t0003 g0196 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00735 hp2 a0001 c0001 t0001 g0317 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00738 hp1 a0001 c0002 t0002 g0076 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00738 hp2 a0001 c0001 t0001 g0227 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00741 hp1 a0001 c0002 t0001 g0125 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG00741 hp2 a0001 c0002 t0004 g0118 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01069 hp1 a0001 c0001 t0003 g0261 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01069 hp2 a0001 c0002 t0002 g0013 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01070 hp1 a0001 c0002 t0002 g0009 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01070 hp2 a0002 c0003 t0001 g0323 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01071 hp1 a0001 c0002 t0002 g0009 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01071 hp2 a0001 c0002 t0002 g0013 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01074 hp1 a0001 c0002 t0002 g0007 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01074 hp2 a0001 c0002 t0004 g0141 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01081 hp1 a0005 c0007 t0001 g0336 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01081 hp2 a0001 c0001 t0001 g0223 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01099 hp1 a0001 c0002 t0002 g0113 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01099 hp2 a0001 c0001 t0004 g0188 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01106 hp1 a0003 c0005 t0002 g0129 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01106 hp2 a0001 c0006 t0001 g0074 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01109 hp1 a0001 c0002 t0002 g0116 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01109 hp2 a0001 c0001 t0003 g0253 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01167 hp1 a0001 c0001 t0001 g0249 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01167 hp2 a0001 c0001 t0003 g0019 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01168 hp1 a0001 c0017 t0001 g0354 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01168 hp2 a0001 c0001 t0004 g0155 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01169 hp1 a0001 c0001 t0003 g0019 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01169 hp2 a0001 c0001 t0004 g0170 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01175 hp1 a0001 c0001 t0003 g0025 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01175 hp2 a0002 c0003 t0001 g0347 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01192 hp1 a0001 c0002 t0001 g0089 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01192 hp2 a0001 c0001 t0001 g0228 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01243 hp1 a0001 c0001 t0001 g0313 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01243 hp2 a0001 c0001 t0001 g0229 AMR PUR RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01255 hp1 a0001 c0001 t0001 g0049 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01255 hp2 a0002 c0003 t0001 g0345 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01257 hp1 a0001 c0001 t0001 g0018 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01257 hp2 a0001 c0002 t0001 g0114 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01258 hp1 a0003 c0005 t0002 g0085 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01258 hp2 a0001 c0001 t0001 g0018 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01261 hp1 a0001 c0001 t0001 g0193 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01261 hp2 a0001 c0001 t0001 g0364 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01358 hp1 a0001 c0006 t0001 g0075 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01358 hp2 a0001 c0002 t0001 g0123 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01361 hp1 a0002 c0003 t0001 g0337 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01361 hp2 a0002 c0003 t0001 g0346 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01433 hp1 a0002 c0003 t0001 g0332 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01433 hp2 a0001 c0002 t0002 g0092 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01496 hp1 a0001 c0002 t0001 g0090 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01496 hp2 a0001 c0001 t0002 g0316 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01515 hp1 a0001 c0002 t0002 g0007 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01515 hp2 a0001 c0001 t0005 g0031 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01516 hp1 a0001 c0002 t0002 g0038 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01516 hp2 a0001 c0001 t0002 g0032 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01517 hp1 a0001 c0001 t0002 g0032 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01517 hp2 a0001 c0001 t0005 g0031 EUR IBS RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01884 hp1 a0001 c0001 t0003 g0235 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01884 hp2 a0001 c0001 t0001 g0004 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01891 hp1 a0001 c0001 t0008 g0306 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01891 hp2 a0002 c0003 t0001 g0331 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01928 hp1 a0001 c0002 t0001 g0135 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01928 hp2 a0001 c0002 t0001 g0039 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01934 hp1 a0001 c0001 t0002 g0343 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01934 hp2 a0002 c0003 t0001 g0324 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01943 hp1 a0001 c0002 t0001 g0069 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01943 hp2 a0001 c0002 t0001 g0137 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01952 hp1 a0001 c0002 t0001 g0120 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01952 hp2 a0002 c0011 t0001 g0119 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01975 hp1 a0001 c0002 t0001 g0109 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01975 hp2 a0001 c0002 t0002 g0111 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01978 hp1 a0001 c0002 t0002 g0124 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01978 hp2 a0001 c0001 t0005 g0315 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01981 hp1 a0001 c0002 t0001 g0130 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01981 hp2 a0001 c0001 t0001 g0225 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01993 hp1 a0001 c0002 t0002 g0081 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01993 hp2 a0001 c0002 t0002 g0136 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02027 hp1 a0001 c0002 t0001 g0121 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02027 hp2 a0001 c0001 t0002 g0352 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02040 hp1 a0001 c0001 t0002 g0017 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02040 hp2 a0001 c0002 t0002 g0140 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02055 hp1 a0001 c0004 t0001 g0357 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02055 hp2 a0004 c0008 t0001 g0272 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02056 hp1 a0001 c0001 t0001 g0026 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02056 hp2 a0001 c0001 t0001 g0060 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02071 hp1 a0001 c0002 t0002 g0211 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02071 hp2 a0001 c0001 t0002 g0219 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02074 hp1 a0001 c0001 t0002 g0341 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02074 hp2 a0001 c0001 t0001 g0172 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02080 hp1 a0001 c0002 t0002 g0102 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02080 hp2 a0001 c0001 t0003 g0047 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02083 hp1 a0001 c0001 t0003 g0293 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02083 hp2 a0001 c0001 t0004 g0169 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02129 hp1 a0001 c0001 t0003 g0164 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02129 hp2 a0001 c0002 t0002 g0095 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02132 hp1 a0001 c0002 t0002 g0101 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02132 hp2 a0001 c0001 t0006 g0174 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02135 hp1 a0001 c0001 t0001 g0287 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02135 hp2 a0001 c0002 t0002 g0105 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02145 hp1 a0001 c0002 t0001 g0131 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02145 hp2 a0001 c0001 t0003 g0224 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02148 hp1 a0001 c0001 t0001 g0063 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02148 hp2 a0001 c0002 t0001 g0087 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02155 hp1 a0001 c0002 t0001 g0098 EAS CDX RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02155 hp2 a0001 c0002 t0002 g0035 EAS CDX RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02165 hp1 a0001 c0001 t0003 g0182 EAS CDX RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02165 hp2 a0001 c0001 t0001 g0280 EAS CDX RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02258 hp1 a0001 c0002 t0001 g0012 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02258 hp2 a0001 c0001 t0003 g0147 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02280 hp1 a0001 c0001 t0001 g0241 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02280 hp2 a0001 c0001 t0001 g0319 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02293 hp1 a0001 c0001 t0001 g0062 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02293 hp2 a0001 c0002 t0001 g0083 AMR PEL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02451 hp1 a0001 c0001 t0002 g0022 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02451 hp2 a0001 c0001 t0002 g0299 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02523 hp1 a0001 c0001 t0002 g0214 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02523 hp2 a0001 c0001 t0001 g0057 EAS KHV RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02572 hp1 a0001 c0001 t0001 g0023 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02572 hp2 a0001 c0002 t0003 g0126 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02602 hp1 a0001 c0001 t0002 g0152 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02602 hp2 a0001 c0001 t0007 g0210 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02615 hp1 a0001 c0001 t0001 g0244 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02615 hp2 a0001 c0001 t0001 g0301 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02622 hp1 a0001 c0001 t0001 g0254 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02622 hp2 a0001 c0001 t0001 g0233 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02630 hp1 a0001 c0001 t0001 g0363 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02630 hp2 a0001 c0001 t0001 g0300 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02647 hp1 a0001 c0001 t0001 g0255 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02647 hp2 a0010 c0009 t0001 g0366 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02683 hp1 a0001 c0001 t0001 g0263 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02683 hp2 a0001 c0001 t0002 g0151 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02717 hp1 a0001 c0001 t0003 g0362 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02717 hp2 a0001 c0001 t0001 g0368 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02723 hp1 a0001 c0001 t0001 g0190 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02723 hp2 a0001 c0001 t0001 g0004 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02735 hp1 a0001 c0016 t0004 g0187 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02735 hp2 a0007 c0012 t0001 g0273 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02738 hp1 a0001 c0001 t0001 g0274 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02738 hp2 a0001 c0001 t0001 g0036 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02809 hp1 a0001 c0001 t0001 g0023 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02809 hp2 a0001 c0001 t0003 g0238 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02818 hp1 a0001 c0004 t0001 g0308 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02818 hp2 a0001 c0001 t0001 g0149 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02886 hp1 a0001 c0001 t0001 g0226 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02886 hp2 a0001 c0001 t0001 g0367 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02896 hp1 a0001 c0001 t0001 g0033 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02896 hp2 a0001 c0001 t0001 g0247 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02897 hp1 a0001 c0001 t0003 g0234 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02897 hp2 a0001 c0001 t0001 g0033 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02922 hp1 a0001 c0001 t0001 g0242 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02922 hp2 a0001 c0001 t0001 g0167 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02965 hp1 a0001 c0001 t0003 g0221 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02965 hp2 a0001 c0001 t0001 g0258 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02970 hp1 a0001 c0001 t0002 g0022 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02970 hp2 a0001 c0001 t0001 g0041 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02976 hp1 a0001 c0001 t0001 g0252 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02976 hp2 a0004 c0008 t0001 g0298 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03017 hp1 a0001 c0001 t0001 g0044 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03017 hp2 a0002 c0003 t0001 g0046 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03041 hp1 a0001 c0002 t0002 g0068 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03041 hp2 a0001 c0001 t0001 g0318 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03098 hp1 a0001 c0001 t0001 g0250 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03098 hp2 a0001 c0001 t0001 g0257 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03139 hp1 a0001 c0001 t0001 g0146 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03139 hp2 a0001 c0001 t0003 g0222 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03195 hp1 a0001 c0001 t0001 g0145 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03195 hp2 a0001 c0001 t0001 g0248 AFR ESN RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03209 hp1 a0001 c0001 t0001 g0245 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03209 hp2 a0001 c0001 t0001 g0040 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03225 hp1 a0001 c0001 t0001 g0024 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03225 hp2 a0001 c0004 t0003 g0360 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03239 hp1 a0002 c0003 t0001 g0043 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03239 hp2 a0001 c0001 t0001 g0021 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03453 hp1 a0001 c0001 t0001 g0240 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03453 hp2 a0001 c0002 t0001 g0012 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03486 hp1 a0001 c0001 t0003 g0148 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03486 hp2 a0001 c0001 t0001 g0156 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03490 hp1 a0001 c0001 t0002 g0143 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03490 hp2 a0001 c0002 t0004 g0008 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03491 hp1 a0001 c0002 t0002 g0006 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03491 hp2 a0001 c0001 t0001 g0065 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03492 hp1 a0001 c0002 t0004 g0008 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03492 hp2 a0001 c0002 t0002 g0006 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03540 hp1 a0001 c0001 t0001 g0004 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03540 hp2 a0001 c0001 t0001 g0239 AFR GWD RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03579 hp1 a0001 c0001 t0001 g0024 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03579 hp2 a0001 c0002 t0002 g0091 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03654 hp1 a0002 c0003 t0001 g0356 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03654 hp2 a0001 c0002 t0002 g0117 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03669 hp1 a0001 c0001 t0007 g0208 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03669 hp2 a0001 c0002 t0002 g0122 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03688 hp1 a0002 c0003 t0001 g0322 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03688 hp2 a0001 c0001 t0004 g0192 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03704 hp1 a0001 c0002 t0002 g0134 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03704 hp2 a0001 c0001 t0001 g0005 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03710 hp1 a0001 c0002 t0001 g0071 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03710 hp2 a0001 c0001 t0002 g0142 SAS PJL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03834 hp1 a0001 c0001 t0001 g0283 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03834 hp2 a0001 c0002 t0002 g0082 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03927 hp1 a0001 c0001 t0001 g0321 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03927 hp2 a0001 c0001 t0003 g0302 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03942 hp1 a0001 c0001 t0001 g0028 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03942 hp2 a0001 c0002 t0001 g0100 SAS BEB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04115 hp1 a0001 c0002 t0003 g0067 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04115 hp2 a0001 c0001 t0001 g0285 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04199 hp1 a0002 c0003 t0001 g0303 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04199 hp2 a0001 c0001 t0001 g0173 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04204 hp1 a0001 c0001 t0001 g0232 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04204 hp2 a0001 c0001 t0001 g0329 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04228 hp1 a0002 c0003 t0001 g0153 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG04228 hp2 a0001 c0001 t0002 g0333 SAS STU RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18522 hp1 a0001 c0001 t0001 g0161 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18522 hp2 a0001 c0001 t0008 g0358 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18612 hp1 a0001 c0001 t0001 g0207 EAS CHB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18612 hp2 a0001 c0001 t0001 g0259 EAS CHB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18747 hp1 a0001 c0001 t0002 g0230 EAS CHB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18747 hp2 a0001 c0002 t0002 g0086 EAS CHB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18906 hp1 a0001 c0001 t0003 g0237 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18906 hp2 a0001 c0001 t0003 g0236 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18939 hp1 a0001 c0001 t0003 g0002 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18939 hp2 a0001 c0001 t0004 g0294 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18940 hp1 a0001 c0001 t0001 g0265 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18940 hp2 a0001 c0001 t0001 g0059 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18941 hp1 a0001 c0001 t0004 g0338 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18941 hp2 a0001 c0001 t0001 g0029 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18942 hp1 a0001 c0001 t0004 g0180 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18942 hp2 a0001 c0001 t0001 g0310 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18943 hp1 a0001 c0002 t0002 g0110 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18943 hp2 a0001 c0001 t0002 g0203 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18944 hp1 a0001 c0001 t0001 g0290 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18944 hp2 a0001 c0001 t0002 g0200 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18945 hp1 a0001 c0001 t0003 g0001 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18945 hp2 a0001 c0002 t0002 g0106 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18946 hp1 a0001 c0001 t0002 g0365 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18946 hp2 a0001 c0001 t0002 g0144 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18948 hp1 a0001 c0001 t0001 g0051 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18948 hp2 a0001 c0001 t0001 g0042 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18952 hp1 a0001 c0001 t0001 g0286 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18952 hp2 a0001 c0001 t0001 g0206 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18953 hp1 a0001 c0001 t0002 g0197 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18953 hp2 a0002 c0003 t0001 g0330 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18954 hp1 a0001 c0001 t0002 g0334 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18954 hp2 a0001 c0001 t0003 g0291 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18956 hp1 a0001 c0001 t0002 g0017 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18956 hp2 a0001 c0001 t0002 g0340 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18957 hp1 a0001 c0001 t0001 g0183 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18957 hp2 a0002 c0003 t0001 g0168 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18959 hp1 a0001 c0001 t0003 g0213 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18959 hp2 a0001 c0001 t0002 g0353 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18960 hp1 a0001 c0001 t0002 g0348 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18960 hp2 a0001 c0001 t0003 g0215 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18961 hp1 a0001 c0002 t0002 g0078 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18961 hp2 a0001 c0001 t0001 g0003 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18962 hp1 a0001 c0001 t0004 g0171 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18962 hp2 a0001 c0001 t0003 g0184 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18964 hp1 a0001 c0001 t0002 g0339 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18964 hp2 a0001 c0001 t0006 g0157 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18965 hp1 a0001 c0002 t0002 g0104 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18965 hp2 a0001 c0001 t0001 g0279 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18966 hp1 a0001 c0001 t0001 g0154 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18966 hp2 a0001 c0001 t0003 g0270 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18967 hp1 a0001 c0001 t0001 g0266 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18967 hp2 a0001 c0001 t0002 g0201 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18968 hp1 a0001 c0001 t0003 g0276 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18968 hp2 a0001 c0002 t0002 g0070 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18969 hp1 a0001 c0001 t0001 g0275 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18969 hp2 a0001 c0001 t0003 g0015 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18970 hp1 a0001 c0001 t0001 g0045 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18970 hp2 a0001 c0002 t0002 g0080 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18971 hp1 a0001 c0001 t0003 g0001 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18971 hp2 a0001 c0001 t0002 g0342 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18977 hp1 a0001 c0001 t0003 g0001 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18977 hp2 a0001 c0002 t0002 g0133 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18979 hp1 a0001 c0001 t0003 g0268 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18979 hp2 a0001 c0001 t0003 g0204 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18980 hp1 a0001 c0002 t0002 g0108 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18980 hp2 a0001 c0001 t0001 g0053 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18981 hp1 a0001 c0002 t0002 g0011 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18981 hp2 a0001 c0001 t0001 g0048 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18982 hp1 a0001 c0001 t0003 g0001 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18982 hp2 a0001 c0002 t0002 g0139 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18983 hp1 a0001 c0002 t0002 g0010 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18983 hp2 a0001 c0001 t0003 g0027 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18984 hp1 a0001 c0001 t0003 g0016 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18984 hp2 a0001 c0001 t0003 g0277 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18987 hp1 a0001 c0001 t0001 g0282 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18987 hp2 a0001 c0001 t0001 g0311 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18988 hp1 a0001 c0001 t0001 g0181 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18988 hp2 a0001 c0001 t0001 g0231 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18990 hp1 a0001 c0002 t0002 g0103 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18990 hp2 a0001 c0001 t0003 g0162 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18994 hp1 a0001 c0001 t0001 g0278 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18994 hp2 a0001 c0001 t0002 g0351 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18997 hp1 a0001 c0001 t0001 g0020 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18997 hp2 a0001 c0002 t0002 g0127 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18998 hp1 a0001 c0001 t0003 g0271 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18998 hp2 a0001 c0002 t0002 g0096 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18999 hp1 a0001 c0002 t0003 g0217 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18999 hp2 a0001 c0001 t0003 g0015 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19000 hp1 a0001 c0001 t0001 g0260 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19000 hp2 a0001 c0001 t0003 g0267 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19002 hp1 a0001 c0002 t0002 g0093 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19002 hp2 a0001 c0001 t0001 g0003 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19003 hp1 a0001 c0001 t0004 g0344 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19003 hp2 a0001 c0001 t0003 g0027 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19004 hp1 a0001 c0001 t0002 g0350 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19004 hp2 a0001 c0002 t0002 g0084 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19005 hp1 a0001 c0002 t0002 g0138 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19005 hp2 a0001 c0001 t0003 g0163 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19010 hp1 a0001 c0001 t0004 g0205 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19010 hp2 a0001 c0002 t0002 g0128 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19011 hp1 a0001 c0001 t0002 g0349 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19011 hp2 a0001 c0001 t0002 g0050 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19030 hp1 a0001 c0001 t0002 g0304 AFR LWK RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19030 hp2 a0001 c0001 t0003 g0361 AFR LWK RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19043 hp1 a0001 c0001 t0001 g0256 AFR LWK RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19043 hp2 a0004 c0010 t0001 g0066 AFR LWK RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19054 hp1 a0001 c0001 t0001 g0202 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19054 hp2 a0001 c0001 t0001 g0029 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19055 hp1 a0001 c0001 t0001 g0005 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19055 hp2 a0001 c0002 t0002 g0010 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19057 hp1 a0001 c0001 t0003 g0002 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19057 hp2 a0001 c0001 t0001 g0037 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19059 hp1 a0001 c0002 t0002 g0112 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19059 hp2 a0001 c0001 t0001 g0150 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19060 hp1 a0001 c0002 t0002 g0107 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19060 hp2 a0001 c0001 t0003 g0016 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19062 hp1 a0001 c0001 t0002 g0061 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19062 hp2 a0001 c0002 t0003 g0218 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19063 hp1 a0001 c0002 t0003 g0216 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19063 hp2 a0001 c0001 t0001 g0312 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19067 hp1 a0001 c0001 t0002 g0292 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19067 hp2 a0001 c0001 t0001 g0269 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19070 hp1 a0001 c0001 t0003 g0328 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19070 hp2 a0001 c0001 t0003 g0176 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19072 hp1 a0001 c0001 t0002 g0355 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19072 hp2 a0001 c0001 t0003 g0175 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19074 hp1 a0001 c0002 t0009 g0077 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19074 hp2 a0001 c0001 t0003 g0030 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19075 hp1 a0008 c0015 t0001 g0289 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19075 hp2 a0001 c0002 t0002 g0097 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19077 hp1 a0001 c0001 t0003 g0002 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19077 hp2 a0001 c0001 t0003 g0178 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19079 hp1 a0001 c0001 t0001 g0026 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19079 hp2 a0001 c0001 t0002 g0159 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19080 hp1 a0001 c0001 t0003 g0001 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19080 hp2 a0001 c0001 t0003 g0295 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19081 hp1 a0001 c0001 t0003 g0055 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19081 hp2 a0001 c0001 t0001 g0020 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19085 hp1 a0001 c0001 t0003 g0165 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19085 hp2 a0001 c0001 t0001 g0003 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19087 hp1 a0001 c0001 t0006 g0179 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19087 hp2 a0001 c0001 t0003 g0030 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19088 hp1 a0001 c0001 t0003 g0064 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19088 hp2 a0001 c0001 t0001 g0052 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19089 hp1 a0001 c0002 t0002 g0011 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19089 hp2 a0001 c0001 t0001 g0185 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19240 hp1 a0001 c0001 t0001 g0307 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA19240 hp2 a0001 c0001 t0002 g0284 AFR YRI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20129 hp1 a0001 c0001 t0002 g0296 AFR ASW RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20129 hp2 a0001 c0002 t0002 g0115 AFR ASW RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20752 hp1 a0002 c0003 t0001 g0325 EUR TSI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20752 hp2 a0002 c0003 t0001 g0326 EUR TSI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20805 hp1 a0002 c0003 t0003 g0262 EUR TSI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20805 hp2 a0005 c0007 t0001 g0209 EUR TSI RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20905 hp1 a0001 c0002 t0002 g0079 SAS GIH RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20905 hp2 a0001 c0001 t0001 g0021 SAS GIH RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01123 hp1 a0003 c0013 t0002 g0191 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG01123 hp2 a0001 c0002 t0002 g0094 AMR CLM RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02109 hp1 a0001 c0001 t0003 g0243 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02109 hp2 a0006 c0018 t0001 g0369 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02486 hp1 a0001 c0001 t0001 g0309 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02486 hp2 a0001 c0001 t0001 g0195 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02559 hp1 a0001 c0001 t0001 g0199 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG02559 hp2 a0001 c0001 t0001 g0251 AFR ACB RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03471 hp1 a0001 c0001 t0001 g0305 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG03471 hp2 a0001 c0001 t0001 g0359 AFR MSL RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG06807 hp1 a0001 c0001 t0011 g0034 AFR USA RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
HG06807 hp2 a0001 c0001 t0002 g0297 AFR USA RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18955 hp1 a0001 c0001 t0001 g0056 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA18955 hp2 a0001 c0001 t0001 g0264 EAS JPT RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20300 hp1 a0001 c0002 t0002 g0088 AFR USA RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
NA20300 hp2 a0001 c0001 t0002 g0246 AFR USA RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
homoSapiens_chm13v2 hp1 a0001 c0001 t0001 g0288 REF REF RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224
homoSapiens_grch38 hp1 a0001 c0001 t0003 g0212 REF REF RSPH1_chr21_42467486_42501224 RSPH1 chr21 42467486 42501224

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
chr21:42476033 C
C
 T
T
 2 a0002
a0005
a0002
a0005
 23 HG00099.hp1
HG01070.hp2
HG01081.hp1
others(20): Show 
HG00099.hp1
HG01070.hp2
HG01081.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG03017.hp2
HG03239.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp1
HG04228.hp1
NA18953.hp2
NA18957.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 missense_variant MODERATE c.742G>A
c.742G>A
 p.Gly248Arg
p.Gly248Arg
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/9 780/1300 742/930 248/309 chr21 42476033
chr21:42476042 C
C
 T
T
 1 a0003
a0003
 3 HG01106.hp1
HG01123.hp1
HG01258.hp1
HG01106.hp1
HG01123.hp1
HG01258.hp1
 missense_variant MODERATE c.733G>A
c.733G>A
 p.Gly245Arg
p.Gly245Arg
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/9 771/1300 733/930 245/309 chr21 42476042
chr21:42476045 C
C
 T
T
 1 a0004
a0004
 3 HG02055.hp2
HG02976.hp2
NA19043.hp2
HG02055.hp2
HG02976.hp2
NA19043.hp2
 missense_variant&splice_region_variant MODERATE c.730G>A
c.730G>A
 p.Ala244Thr
p.Ala244Thr
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/9 768/1300 730/930 244/309 chr21 42476045
chr21:42477305 G
G
 A
A
 1 a0009
a0009
 1 HG00621.hp2
HG00621.hp2
 missense_variant MODERATE c.713C>T
c.713C>T
 p.Ala238Val
p.Ala238Val
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/9 751/1300 713/930 238/309 chr21 42477305
chr21:42477344 G
G
 A
A
 1 a0008
a0008
 1 NA19075.hp1
NA19075.hp1
 missense_variant MODERATE c.674C>T
c.674C>T
 p.Pro225Leu
p.Pro225Leu
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/9 712/1300 674/930 225/309 chr21 42477344
chr21:42477368 A
A
 C
C
 1 a0005
a0005
 2 HG01081.hp1
NA20805.hp2
HG01081.hp1
NA20805.hp2
 missense_variant MODERATE c.650T>G
c.650T>G
 p.Leu217Trp
p.Leu217Trp
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/9 688/1300 650/930 217/309 chr21 42477368
chr21:42477381 G
G
 T
T
 1 a0007
a0007
 1 HG02735.hp2
HG02735.hp2
 missense_variant MODERATE c.637C>A
c.637C>A
 p.Gln213Lys
p.Gln213Lys
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/9 675/1300 637/930 213/309 chr21 42477381
chr21:42486411 T
T
 C
C
 1 a0006
a0006
 1 HG02109.hp2
HG02109.hp2
 missense_variant MODERATE c.325A>G
c.325A>G
 p.Asn109Asp
p.Asn109Asp
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/9 363/1300 325/930 109/309 chr21 42486411
chr21:42493040 C
C
 G
G
 1 a0010
a0010
 1 HG02647.hp2
HG02647.hp2
 missense_variant MODERATE c.94G>C
c.94G>C
 p.Gly32Arg
p.Gly32Arg
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 2/9 132/1300 94/930 32/309 chr21 42493040

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
chr21:42477439 T
T
 C
C
 2 a0001c0006
a0001c0016
a0001c0006
a0001c0016
 3 HG01106.hp2
HG01358.hp1
HG02735.hp1
HG01106.hp2
HG01358.hp1
HG02735.hp1
 synonymous_variant LOW c.579A>G
c.579A>G
 p.Arg193Arg
p.Arg193Arg
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/9 617/1300 579/930 193/309 chr21 42477439
chr21:42485741 G
G
 A
A
 1 a0001c0017
a0001c0017
 1 HG01168.hp1
HG01168.hp1
 synonymous_variant LOW c.429C>T
c.429C>T
 p.Asn143Asn
p.Asn143Asn
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/9 467/1300 429/930 143/309 chr21 42485741
chr21:42485777 C
C
 T
T
 5 a0001c0002
a0001c0006
a0002c0011
others(2): Show 
a0001c0002
a0001c0006
a0002c0011
a0003c0005
a0004c0010
 101 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(98): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 synonymous_variant LOW c.393G>A
c.393G>A
 p.Ala131Ala
p.Ala131Ala
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/9 431/1300 393/930 131/309 chr21 42485777
chr21:42493014 G
G
 A
A
 1 a0001c0004
a0001c0004
 3 HG02055.hp1
HG02818.hp1
HG03225.hp2
HG02055.hp1
HG02818.hp1
HG03225.hp2
 synonymous_variant LOW c.120C>T
c.120C>T
 p.Asn40Asn
p.Asn40Asn
 RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 2/9 158/1300 120/930 40/309 chr21 42493014

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
chr21:42472531 T
T
 C
C
 27 a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
others(24): Show 
a0001c0001t0001
a0001c0001t0002
a0001c0001t0004
a0001c0001t0005
a0001c0001t0006
a0001c0001t0007
a0001c0001t0008
a0001c0001t0011
a0001c0002t0001
a0001c0002t0002
a0001c0002t0004
a0001c0002t0009
a0001c0004t0001
a0001c0006t0001
a0001c0016t0004
a0001c0017t0001
a0002c0003t0001
a0002c0011t0001
a0003c0005t0002
a0003c0013t0002
a0004c0008t0001
a0004c0010t0001
a0005c0007t0001
a0006c0018t0001
a0007c0012t0001
a0008c0015t0001
a0010c0009t0001
 332 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(329): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
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
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19072.hp1
NA19074.hp1
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 3_prime_UTR_variant MODIFIER c.*287A>G
c.*287A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 287 chr21 42472531
chr21:42472567 A
A
 G
G
 1 a0001c0001t0008
a0001c0001t0008
 2 HG01891.hp1
NA18522.hp2
HG01891.hp1
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*251T>C
c.*251T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 251 chr21 42472567
chr21:42472589 C
C
 T
T
 1 a0001c0001t0005
a0001c0001t0005
 4 HG00639.hp1
HG01515.hp2
HG01517.hp2
others(1): Show 
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 3_prime_UTR_variant MODIFIER c.*229G>A
c.*229G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 229 chr21 42472589
chr21:42472629 G
G
 A
A
 1 a0001c0001t0008
a0001c0001t0008
 2 HG01891.hp1
NA18522.hp2
HG01891.hp1
NA18522.hp2
 3_prime_UTR_variant MODIFIER c.*189C>T
c.*189C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 189 chr21 42472629
chr21:42472636 C
C
 T
T
 4 a0001c0001t0004
a0001c0001t0006
a0001c0002t0004
others(1): Show 
a0001c0001t0004
a0001c0001t0006
a0001c0002t0004
a0001c0016t0004
 21 HG00099.hp2
HG00621.hp1
HG00741.hp2
others(18): Show 
HG00099.hp2
HG00621.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01169.hp2
HG02083.hp2
HG02132.hp2
HG02735.hp1
HG03490.hp2
HG03492.hp1
HG03688.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18962.hp1
NA18964.hp2
NA19003.hp1
NA19010.hp1
NA19087.hp1
 3_prime_UTR_variant MODIFIER c.*182G>A
c.*182G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 182 chr21 42472636
chr21:42472665 G
G
 A
A
 11 a0001c0001t0002
a0001c0001t0004
a0001c0001t0006
others(8): Show 
a0001c0001t0002
a0001c0001t0004
a0001c0001t0006
a0001c0001t0007
a0001c0001t0010
a0001c0002t0002
a0001c0002t0004
a0001c0002t0009
a0001c0016t0004
a0003c0005t0002
a0003c0013t0002
 135 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(132): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00609.hp2
HG00621.hp1
HG00738.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01934.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02155.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02683.hp2
HG02735.hp1
HG02970.hp1
HG03041.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04228.hp2
HG06807.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19087.hp1
NA19089.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
 3_prime_UTR_variant MODIFIER c.*153C>T
c.*153C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 153 chr21 42472665
chr21:42472666 C
C
 T
T
 1 a0001c0002t0009
a0001c0002t0009
 1 NA19074.hp1
NA19074.hp1
 3_prime_UTR_variant MODIFIER c.*152G>A
c.*152G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 152 chr21 42472666
chr21:42472764 C
C
 T
T
 1 a0001c0001t0007
a0001c0001t0007
 2 HG02602.hp2
HG03669.hp1
HG02602.hp2
HG03669.hp1
 3_prime_UTR_variant MODIFIER c.*54G>A
c.*54G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 54 chr21 42472764
chr21:42472765 G
G
 A
A
 3 a0001c0001t0004
a0001c0002t0004
a0001c0016t0004
a0001c0001t0004
a0001c0002t0004
a0001c0016t0004
 18 HG00099.hp2
HG00621.hp1
HG00741.hp2
others(15): Show 
HG00099.hp2
HG00621.hp1
HG00741.hp2
HG01074.hp2
HG01099.hp2
HG01168.hp2
HG01169.hp2
HG02083.hp2
HG02735.hp1
HG03490.hp2
HG03492.hp1
HG03688.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18962.hp1
NA19003.hp1
NA19010.hp1
 3_prime_UTR_variant MODIFIER c.*53C>T
c.*53C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 9/9 53 chr21 42472765
chr21:42496204 GATCACAG
others(34): Show 
GATCACAGCCGCAGCGCCTCTAGCAGGTGGGTAGCAACCGCC
 G
G
 1 a0001c0001t0011
a0001c0001t0011
 1 HG06807.hp1
HG06807.hp1
 5_prime_UTR_variant MODIFIER c.-59_-19delGGCGGTTG
others(33): Show 
c.-59_-19delGGCGGTTGCTACCCACCTGCTAGAGGCGCTGCGGCTGT
GAT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/9 19 chr21 42496204

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
chr21:42473074 G
G
 A
A
 115 a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0223
others(112): Show 
a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0223
a0001c0001t0001g0226
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0305
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0292
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0009g0077
a0001c0004t0001g0308
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0006c0018t0001g0369
a0010c0009t0001g0366
 126 HG00140.hp1
HG00323.hp1
HG00423.hp2
others(123): Show 
HG00140.hp1
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01243.hp1
HG01258.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02155.hp2
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03453.hp1
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.878-204C>T
c.878-204C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473074
chr21:42473084 T
T
 G
G
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.878-214A>C
c.878-214A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473084
chr21:42473108 T
T
 A
A
 1 a0001c0001t0002g0304
a0001c0001t0002g0304
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.878-238A>T
c.878-238A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473108
chr21:42473217 G
G
 A
A
 14 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0145
others(11): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
a0001c0001t0001g0233
a0001c0001t0001g0241
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0359
a0001c0004t0001g0357
 16 HG01167.hp1
HG01257.hp1
HG01258.hp2
others(13): Show 
HG01167.hp1
HG01257.hp1
HG01258.hp2
HG02055.hp1
HG02280.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03471.hp2
NA19240.hp1
 intron_variant MODIFIER c.878-347C>T
c.878-347C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473217
chr21:42473288 C
C
 T
T
 239 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(236): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0305
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0121
a0001c0002t0001g0131
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 262 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(259): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01934.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19072.hp1
NA19074.hp1
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.878-418G>A
c.878-418G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473288
chr21:42473320 G
G
 A
A
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.878-450C>T
c.878-450C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473320
chr21:42473405 C
C
 T
T
 15 a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0223
others(12): Show 
a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0223
a0001c0001t0001g0226
a0001c0001t0001g0257
a0001c0001t0001g0305
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0002g0022
a0001c0004t0001g0308
a0006c0018t0001g0369
a0010c0009t0001g0366
 18 HG01081.hp2
HG01243.hp1
HG01884.hp2
others(15): Show 
HG01081.hp2
HG01243.hp1
HG01884.hp2
HG02109.hp2
HG02280.hp2
HG02451.hp1
HG02630.hp1
HG02647.hp2
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03041.hp2
HG03098.hp2
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.878-535G>A
c.878-535G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473405
chr21:42473406 G
G
 A
A
 1 a0001c0001t0002g0284
a0001c0001t0002g0284
 1 NA19240.hp2
NA19240.hp2
 intron_variant MODIFIER c.878-536C>T
c.878-536C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473406
chr21:42473416 C
C
 T
T
 2 a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0008g0306
a0001c0001t0008g0358
 2 HG01891.hp1
NA18522.hp2
HG01891.hp1
NA18522.hp2
 intron_variant MODIFIER c.878-546G>A
c.878-546G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473416
chr21:42473452 T
T
 C
C
 46 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(43): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0154
a0001c0001t0001g0166
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0263
a0001c0001t0001g0266
a0001c0001t0001g0282
a0001c0001t0001g0287
a0001c0001t0001g0309
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0364
a0001c0001t0002g0304
a0001c0002t0001g0014
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0098
a0001c0006t0001g0074
 50 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(47): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01106.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01981.hp2
HG02056.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02486.hp1
HG02523.hp2
HG02683.hp1
HG02738.hp2
HG02970.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03491.hp2
HG03704.hp2
HG03710.hp1
NA18940.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18957.hp1
NA18966.hp1
NA18967.hp1
NA18970.hp1
NA18981.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18997.hp1
NA19030.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19063.hp2
NA19081.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.878-582A>G
c.878-582A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473452
chr21:42473481 T
T
 G
G
 2 a0001c0001t0003g0001
a0001c0001t0003g0204
a0001c0001t0003g0001
a0001c0001t0003g0204
 6 NA18945.hp1
NA18971.hp1
NA18977.hp1
others(3): Show 
NA18945.hp1
NA18971.hp1
NA18977.hp1
NA18979.hp2
NA18982.hp1
NA19080.hp1
 intron_variant MODIFIER c.878-611A>C
c.878-611A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473481
chr21:42473489 T
T
 TA
TA
 20 a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
others(17): Show 
a0001c0001t0001g0018
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0156
a0001c0001t0001g0167
a0001c0001t0001g0241
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0359
a0001c0001t0011g0034
a0001c0004t0001g0357
 24 HG01167.hp1
HG01257.hp1
HG01258.hp2
others(21): Show 
HG01167.hp1
HG01257.hp1
HG01258.hp2
HG02055.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp2
HG02809.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG02976.hp1
HG03139.hp1
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03471.hp2
HG03486.hp2
HG03579.hp1
HG06807.hp1
NA19240.hp1
 intron_variant MODIFIER c.878-620dupT
c.878-620dupT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473489
chr21:42473489 TA
TA
 T
T
 229 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(226): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0036
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0149
a0001c0001t0001g0154
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0305
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0213
a0001c0001t0003g0271
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0121
a0001c0002t0001g0131
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0323
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 251 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(248): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01934.hp1
HG01978.hp1
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp1
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18998.hp1
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19072.hp1
NA19074.hp1
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19089.hp2
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.878-620delT
c.878-620delT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473489
chr21:42473489 TAA
TAA
 T
T
 8 a0001c0001t0001g0037
a0001c0001t0001g0150
a0001c0001t0001g0258
others(5): Show 
a0001c0001t0001g0037
a0001c0001t0001g0150
a0001c0001t0001g0258
a0001c0001t0002g0061
a0001c0001t0004g0344
a0001c0002t0002g0111
a0001c0002t0002g0113
a0004c0010t0001g0066
 8 HG01099.hp1
HG01975.hp2
HG02965.hp2
others(5): Show 
HG01099.hp1
HG01975.hp2
HG02965.hp2
NA19003.hp1
NA19043.hp2
NA19057.hp2
NA19059.hp2
NA19062.hp1
 intron_variant MODIFIER c.878-621_878-620del
others(2): Show 
c.878-621_878-620delTT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473489
chr21:42473555 G
G
 A
A
 1 a0001c0002t0001g0087
a0001c0002t0001g0087
 1 HG02148.hp2
HG02148.hp2
 intron_variant MODIFIER c.878-685C>T
c.878-685C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473555
chr21:42473690 AT
AT
 A
A
 3 a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
 4 HG02559.hp2
HG02976.hp1
HG03225.hp1
others(1): Show 
HG02559.hp2
HG02976.hp1
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.878-821delA
c.878-821delA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473690
chr21:42473696 A
A
 G
G
 3 a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
 4 HG02559.hp2
HG02976.hp1
HG03225.hp1
others(1): Show 
HG02559.hp2
HG02976.hp1
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.878-826T>C
c.878-826T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473696
chr21:42473752 T
T
 C
C
 1 a0002c0003t0001g0337
a0002c0003t0001g0337
 1 HG01361.hp1
HG01361.hp1
 intron_variant MODIFIER c.878-882A>G
c.878-882A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473752
chr21:42473868 C
C
 A
A
 1 a0001c0001t0002g0230
a0001c0001t0002g0230
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.878-998G>T
c.878-998G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473868
chr21:42473880 C
C
 G
G
 3 a0001c0001t0001g0367
a0006c0018t0001g0369
a0010c0009t0001g0366
a0001c0001t0001g0367
a0006c0018t0001g0369
a0010c0009t0001g0366
 3 HG02109.hp2
HG02647.hp2
HG02886.hp2
HG02109.hp2
HG02647.hp2
HG02886.hp2
 intron_variant MODIFIER c.878-1010G>C
c.878-1010G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473880
chr21:42473981 G
G
 A
A
 1 a0006c0018t0001g0369
a0006c0018t0001g0369
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.878-1111C>T
c.878-1111C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473981
chr21:42473996 C
C
 T
T
 2 a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0008g0306
a0001c0001t0008g0358
 2 HG01891.hp1
NA18522.hp2
HG01891.hp1
NA18522.hp2
 intron_variant MODIFIER c.878-1126G>A
c.878-1126G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42473996
chr21:42474005 G
G
 C
C
 1 a0001c0001t0002g0022
a0001c0001t0002g0022
 2 HG02451.hp1
HG02970.hp1
HG02451.hp1
HG02970.hp1
 intron_variant MODIFIER c.878-1135C>G
c.878-1135C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474005
chr21:42474160 C
C
 T
T
 3 a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0004t0001g0357
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0004t0001g0357
 3 HG01167.hp1
HG02055.hp1
HG03195.hp2
HG01167.hp1
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.878-1290G>A
c.878-1290G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474160
chr21:42474344 G
G
 A
A
 144 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0026
others(141): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0053
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0185
a0001c0001t0001g0223
a0001c0001t0001g0226
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0305
a0001c0001t0001g0310
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0002t0001g0012
a0001c0002t0001g0100
a0001c0002t0001g0121
a0001c0002t0001g0131
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0075
a0001c0017t0001g0354
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0007c0012t0001g0273
a0008c0015t0001g0289
 161 HG00140.hp1
HG00140.hp2
HG00323.hp1
others(158): Show 
HG00140.hp1
HG00140.hp2
HG00323.hp1
HG00423.hp2
HG00438.hp1
HG00609.hp2
HG00738.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01081.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01243.hp1
HG01258.hp1
HG01358.hp1
HG01433.hp2
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp2
HG01934.hp1
HG01975.hp2
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02056.hp1
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02074.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02630.hp1
HG02647.hp1
HG02683.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02896.hp2
HG02970.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp2
HG04204.hp1
HG04228.hp2
NA18612.hp2
NA18747.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18952.hp1
NA18953.hp1
NA18954.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19054.hp2
NA19055.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19067.hp2
NA19072.hp1
NA19074.hp1
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19085.hp2
NA19089.hp1
NA19089.hp2
NA20129.hp2
NA20300.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.878-1474C>T
c.878-1474C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474344
chr21:42474367 G
G
 T
T
 5 a0001c0001t0001g0367
a0001c0001t0008g0306
a0001c0001t0008g0358
others(2): Show 
a0001c0001t0001g0367
a0001c0001t0008g0306
a0001c0001t0008g0358
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG01891.hp1
HG02109.hp2
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02109.hp2
HG02647.hp2
HG02886.hp2
NA18522.hp2
 intron_variant MODIFIER c.878-1497C>A
c.878-1497C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474367
chr21:42474471 G
G
 A
A
 1 a0001c0004t0001g0308
a0001c0004t0001g0308
 1 HG02818.hp1
HG02818.hp1
 intron_variant MODIFIER c.877+1427C>T
c.877+1427C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474471
chr21:42474559 G
G
 A
A
 5 a0001c0001t0001g0367
a0001c0001t0008g0306
a0001c0001t0008g0358
others(2): Show 
a0001c0001t0001g0367
a0001c0001t0008g0306
a0001c0001t0008g0358
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG01891.hp1
HG02109.hp2
HG02647.hp2
others(2): Show 
HG01891.hp1
HG02109.hp2
HG02647.hp2
HG02886.hp2
NA18522.hp2
 intron_variant MODIFIER c.877+1339C>T
c.877+1339C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474559
chr21:42474754 T
T
 G
G
 4 a0001c0001t0001g0256
a0001c0001t0002g0246
a0001c0001t0002g0296
others(1): Show 
a0001c0001t0001g0256
a0001c0001t0002g0246
a0001c0001t0002g0296
a0001c0001t0002g0297
 4 HG06807.hp2
NA19043.hp1
NA20129.hp1
others(1): Show 
HG06807.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.877+1144A>C
c.877+1144A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474754
chr21:42474763 A
A
 ACAGCGCT
others(31): Show 
ACAGCGCTCAGGGGAATTACCGATCACGAAAGTCTATGC
 5 a0001c0001t0001g0057
a0001c0001t0001g0256
a0001c0001t0002g0246
others(2): Show 
a0001c0001t0001g0057
a0001c0001t0001g0256
a0001c0001t0002g0246
a0001c0001t0002g0296
a0001c0001t0002g0297
 5 HG02523.hp2
HG06807.hp2
NA19043.hp1
others(2): Show 
HG02523.hp2
HG06807.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.877+1097_877+1134d
others(40): Show 
c.877+1097_877+1134dupGCATAGACTTTCGTGATCGGTAATTCCC
CTGAGCGCTG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474763
chr21:42474763 A
A
 ACAGCGCT
others(69): Show 
ACAGCGCTCAGGGGAATTACCGATCACGAAAGTCTATGCCAGCGCTCAGG
GGAATTACCGATCACGAAAGTCTATGC
 1 a0001c0001t0003g0236
a0001c0001t0003g0236
 1 NA18906.hp2
NA18906.hp2
 intron_variant MODIFIER c.877+1134_877+1135i
others(78): Show 
c.877+1134_877+1135insGCATAGACTTTCGTGATCGGTAATTCCC
CTGAGCGCTGGCATAGACTTTCGTGATCGGTAATTCCCCTGAGCGCTG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474763
chr21:42474763 ACAGCGCT
others(31): Show 
ACAGCGCTCAGGGGAATTACCGATCACGAAAGTCTATGC
 A
A
 9 a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0146
others(6): Show 
a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
a0001c0001t0001g0241
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0359
 10 HG02280.hp1
HG02615.hp2
HG02630.hp2
others(7): Show 
HG02280.hp1
HG02615.hp2
HG02630.hp2
HG02896.hp1
HG02897.hp2
HG02922.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp2
NA19240.hp1
 intron_variant MODIFIER c.877+1097_877+1134d
others(40): Show 
c.877+1097_877+1134delGCATAGACTTTCGTGATCGGTAATTCCC
CTGAGCGCTG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474763
chr21:42474768 G
G
 A
A
 4 a0001c0001t0001g0317
a0001c0001t0005g0031
a0001c0001t0005g0315
others(1): Show 
a0001c0001t0001g0317
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
 5 HG00639.hp1
HG00735.hp2
HG01515.hp2
others(2): Show 
HG00639.hp1
HG00735.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.877+1130C>T
c.877+1130C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474768
chr21:42474783 C
C
 T
T
 4 a0001c0001t0003g0165
a0001c0001t0003g0178
a0001c0001t0003g0182
others(1): Show 
a0001c0001t0003g0165
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0184
 4 HG02165.hp1
NA18962.hp2
NA19077.hp2
others(1): Show 
HG02165.hp1
NA18962.hp2
NA19077.hp2
NA19085.hp1
 intron_variant MODIFIER c.877+1115G>A
c.877+1115G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474783
chr21:42474789 C
C
 CGAAAGTC
others(69): Show 
CGAAAGTCTATGCCAGCGCTCAGGGGAATTACCGATCACGAAAGTCTATG
CCAGCGCTCAGGGGAATTACCGATCAT
 4 a0001c0001t0001g0018
a0001c0001t0001g0233
a0001c0001t0001g0247
others(1): Show 
a0001c0001t0001g0018
a0001c0001t0001g0233
a0001c0001t0001g0247
a0001c0001t0001g0255
 5 HG01257.hp1
HG01258.hp2
HG02622.hp2
others(2): Show 
HG01257.hp1
HG01258.hp2
HG02622.hp2
HG02647.hp1
HG02896.hp2
 intron_variant MODIFIER c.877+1108_877+1109i
others(78): Show 
c.877+1108_877+1109insATGATCGGTAATTCCCCTGAGCGCTGGC
ATAGACTTTCGTGATCGGTAATTCCCCTGAGCGCTGGCATAGACTTTC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474789
chr21:42474789 C
C
 CGAAAGTC
others(31): Show 
CGAAAGTCTATGCCAGCGCTCAGGGGAATTACCGATCAT
 3 a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0004t0001g0357
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0004t0001g0357
 3 HG01167.hp1
HG02055.hp1
HG03195.hp2
HG01167.hp1
HG02055.hp1
HG03195.hp2
 intron_variant MODIFIER c.877+1108_877+1109i
others(40): Show 
c.877+1108_877+1109insATGATCGGTAATTCCCCTGAGCGCTGGC
ATAGACTTTC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42474789
chr21:42475098 T
T
 C
C
 2 a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0008g0306
a0001c0001t0008g0358
 2 HG01891.hp1
NA18522.hp2
HG01891.hp1
NA18522.hp2
 intron_variant MODIFIER c.877+800A>G
c.877+800A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475098
chr21:42475274 C
C
 T
T
 1 a0001c0001t0001g0166
a0001c0001t0001g0166
 1 HG00280.hp2
HG00280.hp2
 intron_variant MODIFIER c.877+624G>A
c.877+624G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475274
chr21:42475361 G
G
 A
A
 2 a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0001t0001g0036
a0001c0001t0001g0044
 2 HG02738.hp2
HG03017.hp1
HG02738.hp2
HG03017.hp1
 intron_variant MODIFIER c.877+537C>T
c.877+537C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475361
chr21:42475467 C
C
 T
T
 41 a0001c0001t0001g0018
a0001c0001t0001g0335
a0001c0001t0003g0019
others(38): Show 
a0001c0001t0001g0018
a0001c0001t0001g0335
a0001c0001t0003g0019
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0002t0003g0126
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0005c0007t0001g0209
a0005c0007t0001g0336
 43 HG00099.hp1
HG00323.hp2
HG01070.hp2
others(40): Show 
HG00099.hp1
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02572.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp1
HG02965.hp1
HG03017.hp2
HG03139.hp2
HG03239.hp1
HG03486.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18957.hp2
NA19030.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.877+431G>A
c.877+431G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475467
chr21:42475544 G
G
 A
A
 1 a0001c0001t0003g0222
a0001c0001t0003g0222
 1 HG03139.hp2
HG03139.hp2
 intron_variant MODIFIER c.877+354C>T
c.877+354C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475544
chr21:42475551 T
T
 C
C
 313 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(310): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0019
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0194
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0126
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 339 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(336): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00735.hp2
HG00738.hp1
HG00738.hp2
HG00741.hp1
HG00741.hp2
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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02083.hp2
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04228.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp2
NA18940.hp1
NA18940.hp2
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp1
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18969.hp1
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA19000.hp1
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19072.hp1
NA19074.hp1
NA19075.hp1
NA19075.hp2
NA19079.hp1
NA19079.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA19089.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
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.877+347A>G
c.877+347A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475551
chr21:42475567 C
C
 CA
CA
 13 a0001c0001t0001g0018
a0001c0001t0001g0049
a0001c0001t0001g0058
others(10): Show 
a0001c0001t0001g0018
a0001c0001t0001g0049
a0001c0001t0001g0058
a0001c0001t0001g0225
a0001c0001t0001g0231
a0001c0001t0001g0260
a0001c0001t0001g0287
a0001c0001t0003g0163
a0001c0001t0003g0281
a0001c0001t0004g0188
a0001c0002t0004g0118
a0001c0016t0004g0187
a0002c0003t0001g0043
 14 HG00408.hp2
HG00597.hp2
HG00741.hp2
others(11): Show 
HG00408.hp2
HG00597.hp2
HG00741.hp2
HG01099.hp2
HG01255.hp1
HG01257.hp1
HG01258.hp2
HG01981.hp2
HG02135.hp1
HG02735.hp1
HG03239.hp1
NA18988.hp2
NA19000.hp1
NA19005.hp2
 intron_variant MODIFIER c.877+330dupT
c.877+330dupT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475567
chr21:42475567 CA
CA
 C
C
 6 a0001c0001t0001g0312
a0001c0001t0001g0367
a0001c0001t0008g0306
others(3): Show 
a0001c0001t0001g0312
a0001c0001t0001g0367
a0001c0001t0008g0306
a0001c0001t0008g0358
a0006c0018t0001g0369
a0010c0009t0001g0366
 6 HG01891.hp1
HG02109.hp2
HG02647.hp2
others(3): Show 
HG01891.hp1
HG02109.hp2
HG02647.hp2
HG02886.hp2
NA18522.hp2
NA19063.hp2
 intron_variant MODIFIER c.877+330delT
c.877+330delT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475567
chr21:42475587 T
T
 C
C
 55 a0001c0001t0001g0018
a0001c0001t0001g0145
a0001c0001t0001g0146
others(52): Show 
a0001c0001t0001g0018
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0156
a0001c0001t0001g0167
a0001c0001t0001g0199
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0368
a0001c0001t0003g0019
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0002t0003g0126
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0005c0007t0001g0209
a0005c0007t0001g0336
 57 HG00099.hp1
HG00323.hp2
HG01070.hp2
others(54): Show 
HG00099.hp1
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01257.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02559.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02717.hp2
HG02809.hp2
HG02897.hp1
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03654.hp1
HG03688.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18957.hp2
NA19030.hp2
NA19240.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.877+311A>G
c.877+311A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475587
chr21:42475588 G
G
 A
A
 48 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
others(45): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
a0001c0001t0001g0241
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0003g0019
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0002t0003g0126
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0005c0007t0001g0209
a0005c0007t0001g0336
 49 HG00099.hp1
HG00323.hp2
HG01070.hp2
others(46): Show 
HG00099.hp1
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01884.hp1
HG01891.hp2
HG01934.hp2
HG01952.hp2
HG02109.hp1
HG02145.hp2
HG02258.hp2
HG02280.hp1
HG02572.hp2
HG02615.hp2
HG02630.hp2
HG02717.hp1
HG02809.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG03017.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03239.hp1
HG03471.hp2
HG03486.hp1
HG03654.hp1
HG03688.hp1
HG04199.hp1
HG04228.hp1
NA18906.hp1
NA18906.hp2
NA18953.hp2
NA18957.hp2
NA19030.hp2
NA19240.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.877+310C>T
c.877+310C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475588
chr21:42475596 A
A
 G
G
 1 a0001c0001t0001g0195
a0001c0001t0001g0195
 1 HG02486.hp2
HG02486.hp2
 intron_variant MODIFIER c.877+302T>C
c.877+302T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475596
chr21:42475613 A
A
 C
C
 1 a0001c0001t0002g0304
a0001c0001t0002g0304
 1 NA19030.hp1
NA19030.hp1
 intron_variant MODIFIER c.877+285T>G
c.877+285T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475613
chr21:42475614 T
T
 G
G
 45 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(42): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0154
a0001c0001t0001g0166
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0263
a0001c0001t0001g0266
a0001c0001t0001g0282
a0001c0001t0001g0287
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0364
a0001c0001t0002g0230
a0001c0001t0002g0292
a0001c0002t0001g0014
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0098
a0001c0006t0001g0074
 49 HG00280.hp1
HG00280.hp2
HG00408.hp1
others(46): Show 
HG00280.hp1
HG00280.hp2
HG00408.hp1
HG00408.hp2
HG00639.hp2
HG00642.hp1
HG00738.hp2
HG01106.hp2
HG01192.hp2
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01981.hp2
HG02056.hp2
HG02135.hp1
HG02148.hp1
HG02155.hp1
HG02523.hp2
HG02683.hp1
HG02738.hp2
HG02970.hp2
HG03017.hp1
HG03209.hp2
HG03239.hp2
HG03491.hp2
HG03704.hp2
HG03710.hp1
NA18747.hp1
NA18940.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp2
NA18955.hp1
NA18957.hp1
NA18966.hp1
NA18967.hp1
NA18970.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18997.hp1
NA19054.hp1
NA19055.hp1
NA19057.hp2
NA19063.hp2
NA19067.hp1
NA19081.hp2
NA19088.hp2
NA20905.hp2
 intron_variant MODIFIER c.877+284A>C
c.877+284A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475614
chr21:42475624 G
G
 C
C
 3 a0001c0001t0001g0233
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0001g0233
a0001c0001t0001g0247
a0001c0001t0001g0255
 3 HG02622.hp2
HG02647.hp1
HG02896.hp2
HG02622.hp2
HG02647.hp1
HG02896.hp2
 intron_variant MODIFIER c.877+274C>G
c.877+274C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475624
chr21:42475749 C
C
 T
T
 8 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
others(5): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0167
a0001c0001t0001g0241
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0307
a0001c0001t0001g0359
 8 HG02280.hp1
HG02615.hp2
HG02630.hp2
others(5): Show 
HG02280.hp1
HG02615.hp2
HG02630.hp2
HG02922.hp2
HG03139.hp1
HG03195.hp1
HG03471.hp2
NA19240.hp1
 intron_variant MODIFIER c.877+149G>A
c.877+149G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475749
chr21:42475786 C
C
 T
T
 8 a0001c0001t0001g0256
a0001c0001t0001g0367
a0001c0001t0005g0031
others(5): Show 
a0001c0001t0001g0256
a0001c0001t0001g0367
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0002t0002g0139
a0006c0018t0001g0369
a0010c0009t0001g0366
 9 HG00639.hp1
HG01515.hp2
HG01517.hp2
others(6): Show 
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG02109.hp2
HG02647.hp2
HG02886.hp2
NA18982.hp2
NA19043.hp1
 intron_variant MODIFIER c.877+112G>A
c.877+112G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475786
chr21:42475870 G
G
 A
A
 1 a0001c0002t0002g0097
a0001c0002t0002g0097
 1 NA19075.hp2
NA19075.hp2
 intron_variant MODIFIER c.877+28C>T
c.877+28C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 8/8 chr21 42475870
chr21:42476176 C
C
 T
T
 4 a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
others(1): Show 
a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
 4 HG01261.hp1
HG02486.hp2
HG02723.hp1
others(1): Show 
HG01261.hp1
HG02486.hp2
HG02723.hp1
NA18522.hp1
 intron_variant MODIFIER c.728-129G>A
c.728-129G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476176
chr21:42476218 G
G
 A
A
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.728-171C>T
c.728-171C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476218
chr21:42476291 A
A
 C
C
 6 a0001c0001t0001g0156
a0001c0001t0001g0199
a0001c0001t0001g0242
others(3): Show 
a0001c0001t0001g0156
a0001c0001t0001g0199
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0368
 6 HG02559.hp1
HG02615.hp1
HG02717.hp2
others(3): Show 
HG02559.hp1
HG02615.hp1
HG02717.hp2
HG02922.hp1
HG03209.hp1
HG03486.hp2
 intron_variant MODIFIER c.728-244T>G
c.728-244T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476291
chr21:42476308 C
C
 T
T
 3 a0001c0001t0001g0367
a0006c0018t0001g0369
a0010c0009t0001g0366
a0001c0001t0001g0367
a0006c0018t0001g0369
a0010c0009t0001g0366
 3 HG02109.hp2
HG02647.hp2
HG02886.hp2
HG02109.hp2
HG02647.hp2
HG02886.hp2
 intron_variant MODIFIER c.728-261G>A
c.728-261G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476308
chr21:42476354 G
G
 C
C
 8 a0001c0001t0001g0256
a0001c0001t0001g0317
a0001c0001t0002g0246
others(5): Show 
a0001c0001t0001g0256
a0001c0001t0001g0317
a0001c0001t0002g0246
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
 9 HG00639.hp1
HG00735.hp2
HG01515.hp2
others(6): Show 
HG00639.hp1
HG00735.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG06807.hp2
NA19043.hp1
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.728-307C>G
c.728-307C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476354
chr21:42476380 C
C
 T
T
 11 a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0161
others(8): Show 
a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0223
a0001c0001t0001g0258
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
 13 HG01081.hp2
HG01243.hp1
HG01261.hp1
others(10): Show 
HG01081.hp2
HG01243.hp1
HG01261.hp1
HG01884.hp2
HG02280.hp2
HG02486.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
 intron_variant MODIFIER c.728-333G>A
c.728-333G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476380
chr21:42476473 C
C
 T
T
 5 a0001c0001t0001g0317
a0001c0001t0005g0031
a0001c0001t0005g0315
others(2): Show 
a0001c0001t0001g0317
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0002t0002g0091
 6 HG00639.hp1
HG00735.hp2
HG01515.hp2
others(3): Show 
HG00639.hp1
HG00735.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG03579.hp2
 intron_variant MODIFIER c.728-426G>A
c.728-426G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476473
chr21:42476503 C
C
 T
T
 2 a0001c0001t0001g0317
a0001c0001t0006g0157
a0001c0001t0001g0317
a0001c0001t0006g0157
 2 HG00735.hp2
NA18964.hp2
HG00735.hp2
NA18964.hp2
 intron_variant MODIFIER c.728-456G>A
c.728-456G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476503
chr21:42476528 C
C
 T
T
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.728-481G>A
c.728-481G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476528
chr21:42476659 C
C
 T
T
 1 a0001c0001t0002g0340
a0001c0001t0002g0340
 1 NA18956.hp2
NA18956.hp2
 intron_variant MODIFIER c.728-612G>A
c.728-612G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476659
chr21:42476664 T
T
 C
C
 4 a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
others(1): Show 
a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
 4 HG01261.hp1
HG02486.hp2
HG02723.hp1
others(1): Show 
HG01261.hp1
HG02486.hp2
HG02723.hp1
NA18522.hp1
 intron_variant MODIFIER c.728-617A>G
c.728-617A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476664
chr21:42476711 C
C
 T
T
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.727+580G>A
c.727+580G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476711
chr21:42476716 C
C
 T
T
 1 a0002c0003t0001g0322
a0002c0003t0001g0322
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.727+575G>A
c.727+575G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476716
chr21:42476721 C
C
 G
G
 12 a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0161
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0161
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0223
a0001c0001t0001g0256
a0001c0001t0001g0258
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
 14 HG01081.hp2
HG01243.hp1
HG01261.hp1
others(11): Show 
HG01081.hp2
HG01243.hp1
HG01261.hp1
HG01884.hp2
HG02280.hp2
HG02486.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02965.hp2
HG03041.hp2
HG03540.hp1
NA18522.hp1
NA19043.hp1
 intron_variant MODIFIER c.727+570G>C
c.727+570G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476721
chr21:42476756 G
G
 T
T
 1 a0001c0001t0002g0339
a0001c0001t0002g0339
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.727+535C>A
c.727+535C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476756
chr21:42476757 C
C
 T
T
 1 a0001c0001t0002g0339
a0001c0001t0002g0339
 1 NA18964.hp1
NA18964.hp1
 intron_variant MODIFIER c.727+534G>A
c.727+534G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476757
chr21:42476787 G
G
 C
C
 1 a0001c0001t0008g0358
a0001c0001t0008g0358
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.727+504C>G
c.727+504C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476787
chr21:42476807 G
G
 A
A
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 NA18997.hp1
NA19081.hp2
NA18997.hp1
NA19081.hp2
 intron_variant MODIFIER c.727+484C>T
c.727+484C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476807
chr21:42476877 A
A
 G
G
 2 a0001c0001t0002g0200
a0001c0001t0006g0179
a0001c0001t0002g0200
a0001c0001t0006g0179
 2 NA18944.hp2
NA19087.hp1
NA18944.hp2
NA19087.hp1
 intron_variant MODIFIER c.727+414T>C
c.727+414T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476877
chr21:42476890 A
A
 G
G
 1 a0001c0001t0003g0196
a0001c0001t0003g0196
 1 HG00735.hp1
HG00735.hp1
 intron_variant MODIFIER c.727+401T>C
c.727+401T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476890
chr21:42476916 A
A
 T
T
 193 a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0037
others(190): Show 
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0037
a0001c0001t0001g0052
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0206
a0001c0001t0001g0233
a0001c0001t0001g0266
a0001c0001t0001g0282
a0001c0001t0001g0287
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0292
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0281
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0010c0009t0001g0366
 205 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(202): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02056.hp2
HG02071.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02886.hp2
HG02970.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03239.hp1
HG03453.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04199.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp1
NA18747.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18967.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18990.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp2
NA19055.hp2
NA19057.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19081.hp2
NA19087.hp1
NA19088.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+375T>A
c.727+375T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476916
chr21:42476961 C
C
 T
T
 1 a0001c0001t0002g0299
a0001c0001t0002g0299
 1 HG02451.hp2
HG02451.hp2
 intron_variant MODIFIER c.727+330G>A
c.727+330G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476961
chr21:42476963 T
T
 C
C
 2 a0001c0001t0002g0152
a0001c0001t0002g0333
a0001c0001t0002g0152
a0001c0001t0002g0333
 2 HG02602.hp1
HG04228.hp2
HG02602.hp1
HG04228.hp2
 intron_variant MODIFIER c.727+328A>G
c.727+328A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476963
chr21:42476973 T
T
 C
C
 5 a0001c0001t0001g0226
a0001c0001t0001g0247
a0001c0001t0001g0255
others(2): Show 
a0001c0001t0001g0226
a0001c0001t0001g0247
a0001c0001t0001g0255
a0001c0001t0002g0152
a0001c0001t0002g0333
 5 HG02602.hp1
HG02647.hp1
HG02886.hp1
others(2): Show 
HG02602.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp2
HG04228.hp2
 intron_variant MODIFIER c.727+318A>G
c.727+318A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476973
chr21:42476973 T
T
 TGGGGATG
others(34): Show 
TGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCC
 1 a0002c0003t0001g0043
a0002c0003t0001g0043
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.727+317_727+318ins
others(41): Show 
c.727+317_727+318insGGGCTGTGGGGTGGAGGGGTCAGAGGGTGT
GGGGCATCCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476973
chr21:42476973 T
T
 TGGGGATG
others(26): Show 
TGGGGATGCCCCACACCCTCTGTCCCATAGCCCG
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.727+317_727+318ins
others(33): Show 
c.727+317_727+318insCGGGCTATGGGACAGAGGGTGTGGGGCATC
CCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476973
chr21:42476973 T
T
 TGGGGATG
others(230): Show 
TGGGGATGCCCCACACCCTCTGTCCCATAGCCCGGGGGTGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC
 2 a0001c0002t0002g0007
a0001c0002t0002g0076
a0001c0002t0002g0007
a0001c0002t0002g0076
 3 HG00738.hp1
HG01074.hp1
HG01515.hp1
HG00738.hp1
HG01074.hp1
HG01515.hp1
 intron_variant MODIFIER c.727+317_727+318ins
others(237): Show 
c.727+317_727+318insGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCACCCCCGGGCTATGGGACAGAGGGTGTGGGG
CATCCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476973
chr21:42476973 TGGGGATG
others(26): Show 
TGGGGATGCCCCACACCCTCTGTCCCACAGCCCG
 T
T
 62 a0001c0001t0001g0004
a0001c0001t0001g0062
a0001c0001t0001g0146
others(59): Show 
a0001c0001t0001g0004
a0001c0001t0001g0062
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0190
a0001c0001t0001g0223
a0001c0001t0001g0233
a0001c0001t0001g0249
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0151
a0001c0001t0002g0198
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0343
a0001c0001t0002g0365
a0001c0001t0003g0196
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0006g0174
a0001c0002t0001g0039
a0001c0002t0001g0087
a0001c0002t0001g0090
a0001c0002t0001g0109
a0001c0002t0001g0123
a0001c0002t0001g0130
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0101
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0133
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0008
a0001c0002t0004g0141
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0153
a0002c0003t0001g0324
a0004c0008t0001g0272
a0005c0007t0001g0336
 65 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(62): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00735.hp1
HG01074.hp2
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01167.hp1
HG01168.hp1
HG01243.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01884.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02071.hp1
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02280.hp2
HG02293.hp1
HG02615.hp2
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp1
HG02818.hp2
HG02922.hp2
HG03139.hp1
HG03490.hp2
HG03492.hp1
HG03540.hp1
HG04228.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18946.hp1
NA18962.hp1
NA18965.hp1
NA18977.hp2
NA18980.hp1
NA18990.hp1
NA18999.hp1
NA19003.hp1
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19060.hp1
NA19063.hp1
NA20300.hp1
 intron_variant MODIFIER c.727+285_727+317del
others(33): Show 
c.727+285_727+317delCGGGCTGTGGGACAGAGGGTGTGGGGCATC
CCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476973
chr21:42476990 C
C
 G
G
 1 a0001c0001t0003g0162
a0001c0001t0003g0162
 1 NA18990.hp2
NA18990.hp2
 intron_variant MODIFIER c.727+301G>C
c.727+301G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476990
chr21:42476994 GTCCCACA
others(17): Show 
GTCCCACAGCCCGGGGGATGCCCCA
 G
G
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+273_727+296del
others(24): Show 
c.727+273_727+296delTGGGGCATCCCCCGGGCTGTGGGA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476994
chr21:42476995 T
T
 C
C
 2 a0001c0001t0002g0152
a0001c0001t0002g0333
a0001c0001t0002g0152
a0001c0001t0002g0333
 2 HG02602.hp1
HG04228.hp2
HG02602.hp1
HG04228.hp2
 intron_variant MODIFIER c.727+296A>G
c.727+296A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42476995
chr21:42477000 C
C
 T
T
 109 a0001c0001t0001g0018
a0001c0001t0001g0241
a0001c0001t0001g0242
others(106): Show 
a0001c0001t0001g0018
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0317
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0004g0169
a0001c0001t0004g0294
a0001c0001t0005g0315
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0069
a0001c0002t0001g0083
a0001c0002t0001g0089
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0125
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0106
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0122
a0001c0002t0002g0127
a0001c0002t0002g0132
a0001c0002t0002g0134
a0001c0002t0002g0139
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0009g0077
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0005c0007t0001g0209
 118 HG00099.hp1
HG00323.hp1
HG00323.hp2
others(115): Show 
HG00099.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00609.hp2
HG00735.hp2
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01978.hp2
HG01993.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02280.hp1
HG02293.hp2
HG02451.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02922.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03209.hp1
HG03471.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03834.hp2
HG04115.hp1
NA18522.hp2
NA18939.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18987.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19059.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19089.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+291G>A
c.727+291G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477000
chr21:42477005 C
C
 T
T
 2 a0001c0001t0005g0031
a0001c0001t0005g0320
a0001c0001t0005g0031
a0001c0001t0005g0320
 3 HG00639.hp1
HG01515.hp2
HG01517.hp2
HG00639.hp1
HG01515.hp2
HG01517.hp2
 intron_variant MODIFIER c.727+286G>A
c.727+286G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477005
chr21:42477006 G
G
 GGGGGATG
others(34): Show 
GGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC
 1 a0001c0002t0002g0116
a0001c0002t0002g0116
 1 HG01109.hp1
HG01109.hp1
 intron_variant MODIFIER c.727+284_727+285ins
others(41): Show 
c.727+284_727+285insGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477006
chr21:42477006 G
G
 GGGGGTGC
others(74): Show 
GGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCC
CCACACCCTCTGACCCCTCCACTCCACAGCCC
 1 a0004c0010t0001g0066
a0004c0010t0001g0066
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.727+284_727+285ins
others(81): Show 
c.727+284_727+285insGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC
C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477006
chr21:42477006 G
G
 GGGGGTGC
others(517): Show 
GGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCC
CCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCT
CTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACTCTCTGACCCCT
CCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCAC
AGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGG
GTGCCCTACACCCTCTGCCCCCCTCCACCCCACAGCCCGGGGATGCCCCA
CACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTG
CCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTG
CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC
CTCTGCCCCCTCCACCCCACAGCCC
 1 a0001c0001t0001g0245
a0001c0001t0001g0245
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.727+284_727+285ins
others(524): Show 
c.727+284_727+285insGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
AGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGGCAGAG
GGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGGGCAGAGGGTGTAGGGCACCCCCG
GGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGG
GTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGG
TCAGAGAGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGT
GTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCAT
CCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477006
chr21:42477006 G
G
 GGGGGTGC
others(280): Show 
GGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCC
CCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCT
CTGCCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCC
 1 a0001c0001t0002g0061
a0001c0001t0002g0061
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.727+284_727+285ins
others(287): Show 
c.727+284_727+285insGGGCTGTGGGGTGGAGGGGTCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGA
GGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGG
GCACCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477006
chr21:42477010 GA
GA
 G
G
 126 a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
others(123): Show 
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0244
a0001c0001t0001g0248
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0194
a0001c0001t0003g0234
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0192
a0001c0001t0004g0294
a0001c0001t0005g0031
a0001c0001t0005g0320
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0069
a0001c0002t0001g0083
a0001c0002t0001g0089
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0125
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0122
a0001c0002t0002g0127
a0001c0002t0002g0132
a0001c0002t0002g0134
a0001c0002t0002g0139
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0009g0077
a0001c0016t0004g0187
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0005c0007t0001g0209
a0006c0018t0001g0369
a0010c0009t0001g0366
 136 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(133): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01943.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02145.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02735.hp1
HG02886.hp2
HG02897.hp1
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18939.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19055.hp2
NA19059.hp1
NA19062.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+280delT
c.727+280delT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477010
chr21:42477010 GATGCCCC
others(67): Show 
GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGA
 G
G
 6 a0001c0001t0002g0353
a0001c0001t0008g0358
a0001c0002t0002g0106
others(3): Show 
a0001c0001t0002g0353
a0001c0001t0008g0358
a0001c0002t0002g0106
a0002c0003t0001g0330
a0002c0003t0001g0347
a0002c0003t0001g0356
 6 HG01175.hp2
HG03654.hp1
NA18522.hp2
others(3): Show 
HG01175.hp2
HG03654.hp1
NA18522.hp2
NA18945.hp2
NA18953.hp2
NA18959.hp2
 intron_variant MODIFIER c.727+207_727+280del
others(74): Show 
c.727+207_727+280delTCCCCGGGCTGTGGGGTGGAGGGGGCAGAG
GGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCAT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477010
chr21:42477010 GATGCCCC
others(108): Show 
GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCA
CTCCACAGCCCGGGGA
 G
G
 25 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0156
others(22): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0193
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0305
a0001c0001t0001g0309
a0001c0001t0001g0317
a0001c0001t0001g0359
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0296
a0001c0001t0003g0236
a0001c0001t0004g0155
a0001c0001t0004g0170
a0001c0001t0004g0205
a0001c0001t0005g0315
a0001c0001t0006g0179
a0001c0002t0001g0137
a0001c0002t0002g0113
a0004c0008t0001g0298
 27 HG00735.hp2
HG01099.hp1
HG01168.hp2
others(24): Show 
HG00735.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01943.hp2
HG01978.hp2
HG02280.hp1
HG02486.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18967.hp2
NA19010.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.727+166_727+280del
c.727+166_727+280del
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477010
chr21:42477011 A
A
 G
G
 1 a0004c0010t0001g0066
a0004c0010t0001g0066
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.727+280T>C
c.727+280T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477011
chr21:42477017 C
C
 T
T
 2 a0001c0001t0004g0294
a0001c0002t0001g0069
a0001c0001t0004g0294
a0001c0002t0001g0069
 2 HG01943.hp1
NA18939.hp2
HG01943.hp1
NA18939.hp2
 intron_variant MODIFIER c.727+274G>A
c.727+274G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477017
chr21:42477020 A
A
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+271T>G
c.727+271T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477020
chr21:42477026 T
T
 C
C
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+265A>G
c.727+265A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477026
chr21:42477027 G
G
 A
A
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+264C>T
c.727+264C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(2): Show 
GCCCCCTCCA
 51 a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
others(48): Show 
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0256
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0142
a0001c0001t0002g0159
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0194
a0001c0001t0004g0169
a0001c0002t0001g0083
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0068
a0001c0002t0002g0092
a0001c0002t0002g0096
a0001c0002t0002g0099
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0002g0117
a0001c0002t0002g0127
a0002c0003t0001g0314
a0002c0003t0001g0323
a0005c0007t0001g0209
a0010c0009t0001g0366
 57 HG00099.hp1
HG00438.hp1
HG00597.hp1
others(54): Show 
HG00099.hp1
HG00438.hp1
HG00597.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01433.hp2
HG01975.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02129.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02647.hp2
HG02886.hp2
HG02970.hp1
HG03041.hp1
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03654.hp2
HG03710.hp2
HG06807.hp2
NA18612.hp1
NA18942.hp2
NA18943.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18964.hp1
NA18969.hp2
NA18971.hp2
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19005.hp2
NA19043.hp1
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(9): Show 
c.727+263_727+264insTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(125): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAG
CCCGGGGGTGCCCTACACCCTCTGCCCCCTCCA
 1 a0001c0002t0002g0093
a0001c0002t0002g0093
 1 NA19002.hp1
NA19002.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(132): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(84): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA
 2 a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0005t0002g0085
a0003c0005t0002g0129
 2 HG01106.hp1
HG01258.hp1
HG01106.hp1
HG01258.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(91): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(248): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC
CCTCCA
 1 a0003c0013t0002g0191
a0003c0013t0002g0191
 1 HG01123.hp1
HG01123.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(255): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(84): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCA
 11 a0001c0001t0002g0144
a0001c0001t0002g0197
a0001c0001t0002g0292
others(8): Show 
a0001c0001t0002g0144
a0001c0001t0002g0197
a0001c0001t0002g0292
a0001c0001t0004g0192
a0001c0002t0001g0089
a0001c0002t0001g0125
a0001c0002t0002g0010
a0001c0002t0002g0080
a0001c0002t0002g0097
a0001c0002t0002g0134
a0001c0002t0009g0077
 12 HG00741.hp1
HG01192.hp1
HG03688.hp2
others(9): Show 
HG00741.hp1
HG01192.hp1
HG03688.hp2
HG03704.hp1
NA18946.hp2
NA18953.hp1
NA18970.hp2
NA18983.hp1
NA19055.hp2
NA19067.hp1
NA19074.hp1
NA19075.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(91): Show 
c.727+263_727+264insTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(166): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGCCCCCTCCA
 1 a0002c0011t0001g0119
a0002c0011t0001g0119
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(173): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(125): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGCCCCCTCCA
 4 a0001c0001t0002g0186
a0001c0001t0002g0214
a0001c0002t0001g0120
others(1): Show 
a0001c0001t0002g0186
a0001c0001t0002g0214
a0001c0002t0001g0120
a0001c0002t0002g0081
 4 HG00609.hp2
HG01952.hp1
HG01993.hp1
others(1): Show 
HG00609.hp2
HG01952.hp1
HG01993.hp1
HG02523.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(132): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(84): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCA
 6 a0001c0002t0002g0078
a0001c0002t0002g0084
a0001c0002t0002g0095
others(3): Show 
a0001c0002t0002g0078
a0001c0002t0002g0084
a0001c0002t0002g0095
a0001c0002t0002g0110
a0001c0002t0002g0139
a0002c0003t0001g0337
 6 HG01361.hp1
HG02129.hp2
NA18943.hp1
others(3): Show 
HG01361.hp1
HG02129.hp2
NA18943.hp1
NA18961.hp1
NA18982.hp2
NA19004.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(91): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(125): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCA
 1 a0001c0001t0002g0050
a0001c0001t0002g0050
 1 NA19011.hp2
NA19011.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(132): Show 
c.727+263_727+264insTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(371): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC
CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTC
CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCG
GGGGTGCCCTACACCCTCTGACCCCTCCA
 1 a0001c0002t0002g0122
a0001c0002t0002g0122
 1 HG03669.hp2
HG03669.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(378): Show 
c.727+263_727+264insTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(371): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC
CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCC
CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCG
GGGGTGCCCTACACCCTCTGCCCCCTCCA
 1 a0002c0003t0001g0322
a0002c0003t0001g0322
 1 HG03688.hp1
HG03688.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(378): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(207): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACAC
CCTCTGCCCCCTCCA
 1 a0001c0002t0002g0079
a0001c0002t0002g0079
 1 NA20905.hp1
NA20905.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(214): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(166): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCTACACCCTCTGCCCCCTCCA
 1 a0001c0002t0001g0121
a0001c0002t0001g0121
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(173): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCATCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(248): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC
CCTCCA
 1 a0001c0002t0004g0118
a0001c0002t0004g0118
 1 HG00741.hp2
HG00741.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(255): Show 
c.727+263_727+264insTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(453): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACC
CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCC
CACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCG
GGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCC
CACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTC
TGCCCCCTCCA
 1 a0001c0002t0004g0072
a0001c0002t0004g0072
 1 HG00099.hp2
HG00099.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(460): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(84): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCC
ACCCCACAGCCTGGGGGTGCCCCACACCCTCTGCCCCCTCCA
 1 a0006c0018t0001g0369
a0006c0018t0001g0369
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.727+263_727+264ins
others(91): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTGGGGCACCCCC
AGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477027 G
G
 GCCCCCTC
others(43): Show 
GCCCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCC
A
 1 a0001c0001t0011g0034
a0001c0001t0011g0034
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.727+263_727+264ins
others(50): Show 
c.727+263_727+264insTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477027
chr21:42477028 T
T
 A
A
 2 a0001c0001t0002g0152
a0001c0001t0002g0333
a0001c0001t0002g0152
a0001c0001t0002g0333
 2 HG02602.hp1
HG04228.hp2
HG02602.hp1
HG04228.hp2
 intron_variant MODIFIER c.727+263A>T
c.727+263A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477028
chr21:42477028 T
T
 C
C
 120 a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
others(117): Show 
a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0244
a0001c0001t0001g0248
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0194
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0192
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0089
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0125
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0127
a0001c0002t0002g0132
a0001c0002t0002g0134
a0001c0002t0002g0139
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0009g0077
a0001c0016t0004g0187
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0005c0007t0001g0209
a0006c0018t0001g0369
a0010c0009t0001g0366
 128 HG00099.hp1
HG00099.hp2
HG00323.hp1
others(125): Show 
HG00099.hp1
HG00099.hp2
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01192.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01891.hp1
HG01891.hp2
HG01928.hp1
HG01952.hp1
HG01952.hp2
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02735.hp1
HG02886.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18968.hp2
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19055.hp2
NA19059.hp1
NA19062.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+263A>G
c.727+263A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477028
chr21:42477029 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
T
 11 a0001c0001t0001g0257
a0001c0002t0001g0114
a0001c0002t0001g0135
others(8): Show 
a0001c0001t0001g0257
a0001c0002t0001g0114
a0001c0002t0001g0135
a0001c0002t0002g0011
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0102
a0001c0002t0002g0112
a0001c0002t0003g0218
 12 HG01123.hp2
HG01257.hp2
HG01516.hp1
others(9): Show 
HG01123.hp2
HG01257.hp2
HG01516.hp1
HG01928.hp1
HG02080.hp1
HG03098.hp2
HG03579.hp2
NA18968.hp2
NA18981.hp1
NA19059.hp1
NA19062.hp2
NA19089.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(50): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 2 a0001c0001t0002g0143
a0001c0002t0002g0082
a0001c0001t0002g0143
a0001c0002t0002g0082
 2 HG03490.hp1
HG03834.hp2
HG03490.hp1
HG03834.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(173): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0335
a0001c0001t0001g0335
 1 HG00323.hp2
HG00323.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(173): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(207): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACTCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0001t0001g0244
a0001c0001t0001g0244
 1 HG02615.hp1
HG02615.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(214): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGAGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(248): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC
TCCACT
 1 a0001c0001t0007g0210
a0001c0001t0007g0210
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(255): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(412): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCA
CACCCTCTGACCCCTCCACT
 1 a0001c0001t0002g0349
a0001c0001t0002g0349
 1 NA19011.hp1
NA19011.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(419): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGT
CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 2 a0001c0001t0002g0352
a0001c0002t0003g0067
a0001c0001t0002g0352
a0001c0002t0003g0067
 2 HG02027.hp2
HG04115.hp1
HG02027.hp2
HG04115.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(173): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(289): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0002c0003t0001g0168
a0002c0003t0001g0168
 1 NA18957.hp2
NA18957.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(296): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGG
CACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(576): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTA
CACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0002c0003t0001g0046
a0002c0003t0001g0046
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(583): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAG
GGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGG
GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGT
CAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTG
TGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATC
CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTG
TGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGA
GGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(230): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGTCCCACAGCCTGGGGATGCCCCACACCC
TCTGTCCCATAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACT
 1 a0001c0002t0002g0132
a0001c0002t0002g0132
 1 HG00323.hp1
HG00323.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(237): Show 
c.727+261_727+262insAGTGGAGGGGGCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTAT
GGGACAGAGGGTGTGGGGCATCCCCAGGCTGTGGGACAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGG
GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG
TGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0004g0158
a0001c0001t0004g0158
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(173): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(2298): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCA
CACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGC
CCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTG
CCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACC
CTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCC
CTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCC
ACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCT
ACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCT
GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGT
GCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACAC
CCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACC
CCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCC
CACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCG
GGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCC
CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACA
GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACA
CCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGAC
CCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACT
CCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCC
GGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCC
CCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCT
CTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCT
CCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCAC
AGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGG
ATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTAC
ACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGA
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC
TCCACT
 1 a0001c0016t0004g0187
a0001c0016t0004g0187
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(2305): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAG
GGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGG
TGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
CAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTG
TGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATC
CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTG
TGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGA
GGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGA
GGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGG
GCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCG
GGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGG
GTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
GCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGT
GTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCAC
CCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCT
GTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG
AGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAG
AGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGG
GGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCC
CGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTG
GGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGG
GGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGG
CTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGT
GGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAG
GGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCTACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0008g0306
a0001c0001t0008g0306
 1 HG01891.hp1
HG01891.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(173): Show 
c.727+261_727+262insAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCAC
T
 1 a0001c0001t0001g0248
a0001c0001t0001g0248
 1 HG03195.hp2
HG03195.hp2
 intron_variant MODIFIER c.727+261_727+262ins
others(50): Show 
c.727+261_727+262insAGTGGAGGGGGCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 CCCCTCCA
others(2): Show 
CCCCTCCACT
 9 a0001c0001t0002g0152
a0001c0001t0002g0333
a0002c0003t0001g0325
others(6): Show 
a0001c0001t0002g0152
a0001c0001t0002g0333
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0003g0262
 9 HG01255.hp2
HG01361.hp2
HG01433.hp1
others(6): Show 
HG01255.hp2
HG01361.hp2
HG01433.hp1
HG01891.hp2
HG02602.hp1
HG04228.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.727+261_727+262ins
others(9): Show 
c.727+261_727+262insAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477029 C
C
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+262G>A
c.727+262G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477029
chr21:42477033 C
C
 T
T
 46 a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0300
others(43): Show 
a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0002g0151
a0001c0001t0002g0198
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0343
a0001c0001t0002g0365
a0001c0001t0004g0188
a0001c0001t0005g0031
a0001c0001t0005g0320
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0087
a0001c0002t0001g0090
a0001c0002t0001g0109
a0001c0002t0001g0123
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0101
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0116
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0133
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0141
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0153
a0002c0003t0001g0324
a0004c0010t0001g0066
a0005c0007t0001g0336
 48 HG00140.hp1
HG00280.hp2
HG00423.hp2
others(45): Show 
HG00140.hp1
HG00280.hp2
HG00423.hp2
HG00639.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02040.hp2
HG02071.hp1
HG02132.hp1
HG02145.hp1
HG02148.hp2
HG02258.hp1
HG02293.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG03453.hp2
HG04228.hp1
NA18747.hp2
NA18946.hp1
NA18965.hp1
NA18977.hp2
NA18980.hp1
NA18990.hp1
NA18999.hp1
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp2
NA19060.hp1
NA19063.hp1
NA20300.hp1
 intron_variant MODIFIER c.727+258G>A
c.727+258G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477033
chr21:42477038 C
C
 T
T
 1 a0001c0002t0003g0067
a0001c0002t0003g0067
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.727+253G>A
c.727+253G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477038
chr21:42477043 G
G
 A
A
 71 a0001c0001t0001g0042
a0001c0001t0001g0207
a0001c0001t0001g0247
others(68): Show 
a0001c0001t0001g0042
a0001c0001t0001g0207
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0255
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0159
a0001c0001t0002g0197
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0194
a0001c0001t0004g0169
a0001c0002t0001g0083
a0001c0002t0001g0089
a0001c0002t0001g0121
a0001c0002t0001g0125
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0078
a0001c0002t0002g0080
a0001c0002t0002g0084
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0127
a0001c0002t0002g0134
a0001c0002t0002g0139
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0009g0077
a0002c0003t0001g0314
a0002c0003t0001g0323
a0002c0003t0001g0337
a0005c0007t0001g0209
a0010c0009t0001g0366
 78 HG00099.hp1
HG00099.hp2
HG00597.hp1
others(75): Show 
HG00099.hp1
HG00099.hp2
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01192.hp1
HG01361.hp1
HG01433.hp2
HG01975.hp2
HG02027.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02129.hp1
HG02129.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02647.hp1
HG02647.hp2
HG02886.hp2
HG02896.hp2
HG02970.hp1
HG03195.hp2
HG03491.hp1
HG03492.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp2
HG06807.hp2
NA18612.hp1
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18946.hp2
NA18948.hp2
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18969.hp2
NA18970.hp2
NA18971.hp2
NA18982.hp2
NA18983.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp2
NA19011.hp2
NA19055.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+248C>T
c.727+248C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477043
chr21:42477043 G
G
 GTGCCCCA
others(75): Show 
GTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGCCCCCTCCACTCCACAGCCCGGGGA
 1 a0001c0001t0003g0293
a0001c0001t0003g0293
 1 HG02083.hp1
HG02083.hp1
 intron_variant MODIFIER c.727+247_727+248ins
others(82): Show 
c.727+247_727+248insTCCCCGGGCTGTGGAGTGGAGGGGGCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGG
CA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477043
chr21:42477043 G
G
 GTGCCCCA
others(35): Show 
GTGCCCCACACCCTCTGCCCCCCTCCACCCCACAGCCCGGGGA
 1 a0001c0001t0001g0250
a0001c0001t0001g0250
 1 HG03098.hp1
HG03098.hp1
 intron_variant MODIFIER c.727+247_727+248ins
others(42): Show 
c.727+247_727+248insTCCCCGGGCTGTGGGGTGGAGGGGGGCAGA
GGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477043
chr21:42477049 C
C
 CACACCCT
others(34): Show 
CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCT
 2 a0001c0001t0001g0172
a0001c0001t0001g0278
a0001c0001t0001g0172
a0001c0001t0001g0278
 2 HG02074.hp2
NA18994.hp1
HG02074.hp2
NA18994.hp1
 intron_variant MODIFIER c.727+241_727+242ins
others(41): Show 
c.727+241_727+242insAGGGCACCCCCGGGCTGTGGAGTGGAGGGG
GCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477049
chr21:42477049 C
C
 T
T
 28 a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0244
others(25): Show 
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0244
a0001c0001t0001g0256
a0001c0001t0001g0307
a0001c0001t0001g0335
a0001c0002t0001g0114
a0001c0002t0001g0135
a0001c0002t0002g0011
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0112
a0001c0002t0002g0132
a0001c0002t0003g0218
a0001c0016t0004g0187
a0002c0003t0001g0168
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0003g0262
 29 HG00323.hp1
HG00323.hp2
HG00438.hp1
others(26): Show 
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG01123.hp2
HG01255.hp2
HG01257.hp2
HG01361.hp2
HG01433.hp1
HG01516.hp1
HG01891.hp2
HG01928.hp1
HG02080.hp1
HG02486.hp2
HG02615.hp1
HG02735.hp1
HG03041.hp1
HG03195.hp1
HG03579.hp2
NA18957.hp2
NA18968.hp2
NA18981.hp1
NA19043.hp1
NA19059.hp1
NA19062.hp2
NA19089.hp1
NA19240.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.727+242G>A
c.727+242G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477049
chr21:42477060 C
C
 A
A
 64 a0001c0001t0001g0257
a0001c0001t0001g0310
a0001c0001t0001g0311
others(61): Show 
a0001c0001t0001g0257
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0007g0210
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0081
a0001c0002t0002g0084
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0102
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0139
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0004g0072
a0001c0002t0004g0118
a0002c0003t0001g0046
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0337
a0005c0007t0001g0209
 70 HG00099.hp1
HG00099.hp2
HG00609.hp2
others(67): Show 
HG00099.hp1
HG00099.hp2
HG00609.hp2
HG00621.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01257.hp2
HG01361.hp1
HG01433.hp2
HG01516.hp1
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02129.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03491.hp1
HG03492.hp2
HG03688.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18942.hp2
NA18943.hp1
NA18943.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18968.hp2
NA18971.hp2
NA18981.hp1
NA18982.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp2
NA19002.hp1
NA19004.hp1
NA19004.hp2
NA19011.hp1
NA19059.hp1
NA19062.hp2
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19089.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+231G>T
c.727+231G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477060
chr21:42477070 C
C
 CCCACAGC
others(34): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACT
 2 a0001c0001t0001g0023
a0001c0001t0001g0254
a0001c0001t0001g0023
a0001c0001t0001g0254
 2 HG02622.hp1
HG02809.hp1
HG02622.hp1
HG02809.hp1
 intron_variant MODIFIER c.727+180_727+220dup
others(41): Show 
c.727+180_727+220dupAGTGGAGGGGGCAGAGGGTGTGGGGCATCC
CCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477070
chr21:42477070 C
C
 T
T
 61 a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
others(58): Show 
a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0250
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0307
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0007g0210
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0120
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0068
a0001c0002t0002g0081
a0001c0002t0002g0092
a0001c0002t0002g0096
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0003g0067
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0005c0007t0001g0209
 67 HG00099.hp1
HG00597.hp1
HG00609.hp2
others(64): Show 
HG00099.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01433.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02027.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02970.hp1
HG03041.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp1
HG03491.hp1
HG03492.hp2
HG03688.hp1
HG03710.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18612.hp1
NA18943.hp2
NA18948.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18964.hp1
NA18969.hp2
NA18971.hp2
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp2
NA18999.hp2
NA19004.hp1
NA19005.hp2
NA19011.hp1
NA19011.hp2
NA19043.hp1
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19240.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+221G>A
c.727+221G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477070
chr21:42477079 C
C
 T
T
 2 a0001c0001t0001g0367
a0010c0009t0001g0366
a0001c0001t0001g0367
a0010c0009t0001g0366
 2 HG02647.hp2
HG02886.hp2
HG02647.hp2
HG02886.hp2
 intron_variant MODIFIER c.727+212G>A
c.727+212G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477079
chr21:42477084 A
A
 G
G
 76 a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0149
others(73): Show 
a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0167
a0001c0001t0001g0190
a0001c0001t0001g0223
a0001c0001t0001g0245
a0001c0001t0001g0249
a0001c0001t0001g0258
a0001c0001t0001g0307
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0007g0210
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0089
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0125
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0092
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0002g0122
a0001c0002t0002g0127
a0001c0002t0003g0067
a0001c0002t0009g0077
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0005c0007t0001g0209
a0010c0009t0001g0366
 84 HG00099.hp1
HG00323.hp2
HG00609.hp2
others(81): Show 
HG00099.hp1
HG00323.hp2
HG00609.hp2
HG00621.hp1
HG00741.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01106.hp1
HG01123.hp1
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01258.hp1
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02027.hp1
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02647.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03139.hp1
HG03209.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03669.hp2
HG03688.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18943.hp2
NA18946.hp1
NA18953.hp1
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18964.hp1
NA18970.hp2
NA18971.hp2
NA18983.hp1
NA18987.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19011.hp2
NA19055.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19079.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+207T>C
c.727+207T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477084
chr21:42477090 C
C
 T
T
 56 a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0149
others(53): Show 
a0001c0001t0001g0004
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0167
a0001c0001t0001g0190
a0001c0001t0001g0223
a0001c0001t0001g0245
a0001c0001t0001g0249
a0001c0001t0001g0258
a0001c0001t0001g0307
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0007g0210
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0120
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0092
a0001c0002t0002g0096
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0003g0067
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0004c0008t0001g0272
a0005c0007t0001g0209
 63 HG00099.hp1
HG00609.hp2
HG00621.hp1
others(60): Show 
HG00099.hp1
HG00609.hp2
HG00621.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01081.hp2
HG01167.hp1
HG01243.hp1
HG01433.hp2
HG01884.hp2
HG01952.hp1
HG01975.hp2
HG02040.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02155.hp2
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp1
HG02602.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02922.hp2
HG02965.hp2
HG02970.hp1
HG03139.hp1
HG03209.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03688.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18943.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19011.hp1
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19240.hp1
NA20129.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+201G>A
c.727+201G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477090
chr21:42477101 C
C
 A
A
 114 a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0226
others(111): Show 
a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0226
a0001c0001t0001g0244
a0001c0001t0001g0255
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0367
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0343
a0001c0001t0002g0352
a0001c0001t0002g0365
a0001c0001t0004g0158
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0109
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0097
a0001c0002t0002g0101
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0003g0262
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0010c0009t0001g0366
 120 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(117): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00621.hp1
HG00639.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01168.hp1
HG01192.hp1
HG01255.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp1
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02155.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02970.hp1
HG03017.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG04115.hp1
HG04228.hp1
HG04228.hp2
NA18747.hp2
NA18939.hp2
NA18941.hp1
NA18942.hp1
NA18943.hp1
NA18946.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp1
NA18962.hp1
NA18964.hp2
NA18965.hp1
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19060.hp1
NA19062.hp1
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+190G>T
c.727+190G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477101
chr21:42477101 C
C
 CCCCCTCC
others(198): Show 
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG
CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC
CTCTGA
 1 a0002c0003t0001g0331
a0002c0003t0001g0331
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.727+189_727+190ins
others(205): Show 
c.727+189_727+190insTCAGAGGGTGTAGGGCACCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGG
GGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477101
chr21:42477101 C
C
 T
T
 1 a0001c0002t0004g0141
a0001c0002t0004g0141
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.727+190G>A
c.727+190G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477101
chr21:42477110 C
C
 CCCCACAG
others(25): Show 
CCCCACAGCCTGGGGATGCCCCACACCCTCTGT
 2 a0001c0001t0002g0022
a0001c0001t0002g0299
a0001c0001t0002g0022
a0001c0001t0002g0299
 3 HG02451.hp1
HG02451.hp2
HG02970.hp1
HG02451.hp1
HG02451.hp2
HG02970.hp1
 intron_variant MODIFIER c.727+180_727+181ins
others(32): Show 
c.727+180_727+181insACAGAGGGTGTGGGGCATCCCCAGGCTGTG
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477110
chr21:42477110 CTCCACAG
others(107): Show 
CTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGT
 C
C
 1 a0001c0001t0001g0247
a0001c0001t0001g0247
 1 HG02896.hp2
HG02896.hp2
 intron_variant MODIFIER c.727+67_727+180del
c.727+67_727+180del
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477110
chr21:42477111 T
T
 C
C
 105 a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
others(102): Show 
a0001c0001t0001g0042
a0001c0001t0001g0145
a0001c0001t0001g0195
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0233
a0001c0001t0001g0248
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0266
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0335
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0192
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0008g0358
a0001c0001t0011g0034
a0001c0002t0001g0083
a0001c0002t0001g0090
a0001c0002t0001g0114
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0082
a0001c0002t0002g0086
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0096
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0117
a0001c0002t0002g0127
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0138
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0004g0118
a0001c0004t0001g0357
a0001c0016t0004g0187
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0005c0007t0001g0209
a0006c0018t0001g0369
 113 HG00099.hp1
HG00323.hp2
HG00438.hp1
others(110): Show 
HG00099.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01123.hp2
HG01175.hp2
HG01255.hp2
HG01257.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01975.hp2
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02109.hp2
HG02155.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02602.hp1
HG02622.hp2
HG02647.hp1
HG02735.hp1
HG02970.hp1
HG03041.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03490.hp1
HG03491.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18941.hp1
NA18942.hp1
NA18942.hp2
NA18943.hp2
NA18945.hp2
NA18948.hp2
NA18952.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18962.hp1
NA18964.hp1
NA18967.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18977.hp2
NA18981.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp2
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19043.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
 intron_variant MODIFIER c.727+180A>G
c.727+180A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477111
chr21:42477111 T
T
 TCCACAGC
others(34): Show 
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACC
 1 a0008c0015t0001g0289
a0008c0015t0001g0289
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.727+139_727+179dup
others(41): Show 
c.727+139_727+179dupGGTGGAGGGGGCAGAGGGTGTGGGGCATCC
CCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477111
chr21:42477111 T
T
 TCCACAGC
others(25): Show 
TCCACAGCCCGGGGATGCCCCACACCCTCTGTC
 1 a0001c0001t0001g0228
a0001c0001t0001g0228
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.727+179_727+180ins
others(32): Show 
c.727+179_727+180insGACAGAGGGTGTGGGGCATCCCCGGGCTGT
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477111
chr21:42477111 TCCACAGC
others(107): Show 
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTC
 T
T
 6 a0001c0001t0001g0226
a0001c0001t0004g0294
a0001c0001t0005g0031
others(3): Show 
a0001c0001t0001g0226
a0001c0001t0004g0294
a0001c0001t0005g0031
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0002t0001g0069
 7 HG00639.hp1
HG01515.hp2
HG01517.hp2
others(4): Show 
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01943.hp1
HG02886.hp1
NA18939.hp2
NA18964.hp2
 intron_variant MODIFIER c.727+66_727+179del
c.727+66_727+179del
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477111
chr21:42477114 A
A
 T
T
 1 a0001c0001t0008g0358
a0001c0001t0008g0358
 1 NA18522.hp2
NA18522.hp2
 intron_variant MODIFIER c.727+177T>A
c.727+177T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477114
chr21:42477115 C
C
 CAGCCCGG
others(57): Show 
CAGCCCGGGGGTGCCCCACACCCTCTGTCCCATAGCCCGGGGGTGCCCCA
CACCCTCTGTCCCAT
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.727+175_727+176ins
others(64): Show 
c.727+175_727+176insATGGGACAGAGGGTGTGGGGCACCCCCGGG
CTATGGGACAGAGGGTGTGGGGCACCCCCGGGCT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477115
chr21:42477125 A
A
 ATGCCCCA
others(148): Show 
ATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGG
 1 a0001c0001t0001g0028
a0001c0001t0001g0028
 2 HG00140.hp2
HG03942.hp1
HG00140.hp2
HG03942.hp1
 intron_variant MODIFIER c.727+165_727+166ins
others(155): Show 
c.727+165_727+166insCCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG
CACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477125
chr21:42477125 A
A
 ATGCCCCA
others(189): Show 
ATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGG
 1 a0001c0001t0001g0288
a0001c0001t0001g0288
 1 homoSapiens_chm13v2.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.727+165_727+166ins
others(196): Show 
c.727+165_727+166insCCCCCGGGCTGTGGGGTGGAGGGGGCAGAG
GGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
CAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477125
chr21:42477125 A
A
 ATGCCCCA
others(139): Show 
ATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGGTGCCCCACACCCTCTGTCCCATAGCCCGGGGG
 1 a0001c0002t0001g0073
a0001c0002t0001g0073
 1 HG00280.hp1
HG00280.hp1
 intron_variant MODIFIER c.727+165_727+166ins
others(146): Show 
c.727+165_727+166insCCCCCGGGCTATGGGACAGAGGGTGTGGGG
CACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGG
CAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477125
chr21:42477125 A
A
 ATGCCCCA
others(25): Show 
ATGCCCCACACCCTCTGTCCCACAGCCCGGGGG
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.727+165_727+166ins
others(32): Show 
c.727+165_727+166insCCCCCGGGCTGTGGGACAGAGGGTGTGGGG
CA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477125
chr21:42477125 A
A
 G
G
 107 a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0244
others(104): Show 
a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0214
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0343
a0001c0001t0002g0352
a0001c0001t0002g0365
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0006g0174
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0011g0034
a0001c0002t0001g0039
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0097
a0001c0002t0002g0101
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0112
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0324
a0002c0003t0001g0337
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0010c0009t0001g0366
 111 HG00099.hp2
HG00140.hp1
HG00280.hp2
others(108): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00609.hp2
HG00741.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp2
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp1
HG01123.hp2
HG01168.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01496.hp2
HG01516.hp1
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02293.hp1
HG02451.hp1
HG02451.hp2
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02647.hp2
HG02683.hp2
HG02735.hp1
HG02818.hp1
HG02886.hp2
HG02970.hp1
HG03017.hp2
HG03041.hp1
HG03490.hp1
HG03490.hp2
HG03492.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03704.hp1
HG03834.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp1
HG06807.hp2
NA18747.hp2
NA18943.hp1
NA18946.hp1
NA18946.hp2
NA18953.hp1
NA18957.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+166T>C
c.727+166T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477125
chr21:42477131 C
C
 T
T
 66 a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0244
others(63): Show 
a0001c0001t0001g0062
a0001c0001t0001g0166
a0001c0001t0001g0244
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0151
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0214
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0343
a0001c0001t0002g0365
a0001c0001t0004g0188
a0001c0001t0006g0174
a0001c0001t0007g0210
a0001c0002t0001g0039
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0109
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0010
a0001c0002t0002g0038
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0084
a0001c0002t0002g0088
a0001c0002t0002g0093
a0001c0002t0002g0095
a0001c0002t0002g0097
a0001c0002t0002g0101
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0116
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0008
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0324
a0005c0007t0001g0336
 68 HG00140.hp1
HG00280.hp2
HG00323.hp1
others(65): Show 
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00609.hp2
HG00741.hp1
HG01081.hp1
HG01099.hp2
HG01109.hp1
HG01168.hp1
HG01192.hp1
HG01358.hp1
HG01358.hp2
HG01496.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02129.hp2
HG02132.hp1
HG02132.hp2
HG02135.hp2
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG02735.hp1
HG02818.hp1
HG03017.hp2
HG03490.hp2
HG03492.hp1
HG03669.hp2
HG03704.hp1
HG04228.hp1
NA18943.hp1
NA18946.hp1
NA18953.hp1
NA18957.hp2
NA18961.hp1
NA18965.hp1
NA18970.hp2
NA18980.hp1
NA18982.hp2
NA18983.hp1
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19055.hp2
NA19062.hp1
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.727+160G>A
c.727+160G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477131
chr21:42477141 G
G
 GTCCCACA
others(57): Show 
GTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCA
 2 a0001c0002t0002g0092
a0001c0002t0002g0111
a0001c0002t0002g0092
a0001c0002t0002g0111
 2 HG01433.hp2
HG01975.hp2
HG01433.hp2
HG01975.hp2
 intron_variant MODIFIER c.727+149_727+150ins
others(64): Show 
c.727+149_727+150insTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477141
chr21:42477141 GC
GC
 G
G
 3 a0001c0001t0001g0018
a0001c0001t0001g0241
a0001c0001t0001g0359
a0001c0001t0001g0018
a0001c0001t0001g0241
a0001c0001t0001g0359
 4 HG01257.hp1
HG01258.hp2
HG02280.hp1
others(1): Show 
HG01257.hp1
HG01258.hp2
HG02280.hp1
HG03471.hp2
 intron_variant MODIFIER c.727+149delG
c.727+149delG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477141
chr21:42477141 GCCCCCTC
others(2): Show 
GCCCCCTCCA
 G
G
 5 a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0338
others(2): Show 
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0002t0002g0006
 6 HG03491.hp1
HG03492.hp2
NA18941.hp1
others(3): Show 
HG03491.hp1
HG03492.hp2
NA18941.hp1
NA18942.hp1
NA18962.hp1
NA19003.hp1
 intron_variant MODIFIER c.727+141_727+149del
others(9): Show 
c.727+141_727+149delTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477141
chr21:42477142 C
C
 A
A
 98 a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0206
others(95): Show 
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0248
a0001c0001t0001g0257
a0001c0001t0001g0266
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0335
a0001c0001t0002g0017
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0007g0210
a0001c0002t0001g0039
a0001c0002t0001g0087
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0123
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0079
a0001c0002t0002g0081
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0096
a0001c0002t0002g0099
a0001c0002t0002g0102
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0136
a0001c0002t0002g0140
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0017t0001g0354
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0356
a0002c0003t0003g0262
 103 HG00099.hp2
HG00140.hp1
HG00323.hp1
others(100): Show 
HG00099.hp2
HG00140.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01099.hp2
HG01109.hp1
HG01123.hp2
HG01168.hp1
HG01255.hp2
HG01257.hp2
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02083.hp2
HG02135.hp2
HG02148.hp2
HG02293.hp1
HG02523.hp1
HG02602.hp2
HG02615.hp2
HG02630.hp2
HG02683.hp2
HG03017.hp2
HG03098.hp2
HG03195.hp2
HG03490.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp2
HG03710.hp2
HG04228.hp1
NA18612.hp1
NA18943.hp2
NA18945.hp2
NA18946.hp1
NA18948.hp2
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18967.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18981.hp1
NA18987.hp2
NA18990.hp2
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19059.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.727+149G>T
c.727+149G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477142
chr21:42477142 C
C
 CCCCCTCC
others(34): Show 
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGA
 2 a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0001t0001g0036
a0001c0001t0001g0044
 2 HG02738.hp2
HG03017.hp1
HG02738.hp2
HG03017.hp1
 intron_variant MODIFIER c.727+108_727+148dup
others(41): Show 
c.727+108_727+148dupTCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477142
chr21:42477142 C
C
 CCCCCTCC
others(312): Show 
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACC
CTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCC
ACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGA
 1 a0001c0001t0001g0065
a0001c0001t0001g0065
 1 HG03491.hp2
HG03491.hp2
 intron_variant MODIFIER c.727+148_727+149ins
others(319): Show 
c.727+148_727+149insTCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG
GGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGG
CTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT
GGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGAC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477142
chr21:42477142 C
C
 CCCCCTCC
others(75): Show 
CCCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCGGGGGTGCCCTACACCCTCTGA
 1 a0001c0001t0001g0310
a0001c0001t0001g0310
 1 NA18942.hp2
NA18942.hp2
 intron_variant MODIFIER c.727+148_727+149ins
others(82): Show 
c.727+148_727+149insTCAGAGGGTGTAGGGCACCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGG
GG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477142
chr21:42477143 C
C
 A
A
 2 a0001c0002t0002g0092
a0001c0002t0002g0111
a0001c0002t0002g0092
a0001c0002t0002g0111
 2 HG01433.hp2
HG01975.hp2
HG01433.hp2
HG01975.hp2
 intron_variant MODIFIER c.727+148G>T
c.727+148G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477143
chr21:42477149 C
C
 T
T
 2 a0001c0002t0002g0092
a0001c0002t0002g0111
a0001c0002t0002g0092
a0001c0002t0002g0111
 2 HG01433.hp2
HG01975.hp2
HG01433.hp2
HG01975.hp2
 intron_variant MODIFIER c.727+142G>A
c.727+142G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477149
chr21:42477150 A
A
 G
G
 2 a0001c0002t0002g0092
a0001c0002t0002g0111
a0001c0002t0002g0092
a0001c0002t0002g0111
 2 HG01433.hp2
HG01975.hp2
HG01433.hp2
HG01975.hp2
 intron_variant MODIFIER c.727+141T>C
c.727+141T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477150
chr21:42477151 C
C
 T
T
 7 a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0338
others(4): Show 
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0002t0002g0006
a0001c0002t0002g0092
a0001c0002t0002g0111
 8 HG01433.hp2
HG01975.hp2
HG03491.hp1
others(5): Show 
HG01433.hp2
HG01975.hp2
HG03491.hp1
HG03492.hp2
NA18941.hp1
NA18942.hp1
NA18962.hp1
NA19003.hp1
 intron_variant MODIFIER c.727+140G>A
c.727+140G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477151
chr21:42477151 CCCCACAG
others(66): Show 
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGT
 C
C
 2 a0001c0004t0001g0308
a0002c0003t0001g0153
a0001c0004t0001g0308
a0002c0003t0001g0153
 2 HG02818.hp1
HG04228.hp1
HG02818.hp1
HG04228.hp1
 intron_variant MODIFIER c.727+67_727+139delA
others(72): Show 
c.727+67_727+139delACAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477151
chr21:42477152 C
C
 CCCACAGC
others(34): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACT
 1 a0001c0001t0003g0243
a0001c0001t0003g0243
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.727+138_727+139ins
others(41): Show 
c.727+138_727+139insAGTGGAGGGGGCAGAGGGTGTGGGGCACCC
CCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477152
chr21:42477152 C
C
 T
T
 27 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0145
others(24): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0145
a0001c0001t0001g0244
a0001c0001t0001g0248
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0257
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0002g0022
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0003g0147
a0001c0001t0004g0192
a0001c0001t0007g0210
a0001c0002t0001g0114
a0001c0002t0002g0011
a0001c0002t0002g0070
a0001c0002t0002g0081
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0112
a0001c0002t0002g0117
a0001c0002t0003g0218
a0001c0002t0004g0118
a0009c0014t0003g0189
 30 HG00323.hp2
HG00621.hp2
HG00741.hp2
others(27): Show 
HG00323.hp2
HG00621.hp2
HG00741.hp2
HG01123.hp2
HG01257.hp2
HG01993.hp1
HG02258.hp2
HG02451.hp1
HG02451.hp2
HG02559.hp2
HG02572.hp1
HG02602.hp2
HG02615.hp1
HG02630.hp1
HG02970.hp1
HG02976.hp1
HG03098.hp2
HG03195.hp1
HG03195.hp2
HG03225.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03688.hp2
NA18968.hp2
NA18981.hp1
NA19030.hp1
NA19059.hp1
NA19062.hp2
NA19089.hp1
 intron_variant MODIFIER c.727+139G>A
c.727+139G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477152
chr21:42477155 A
A
 T
T
 3 a0001c0001t0002g0297
a0001c0001t0003g0236
a0001c0001t0011g0034
a0001c0001t0002g0297
a0001c0001t0003g0236
a0001c0001t0011g0034
 3 HG06807.hp1
HG06807.hp2
NA18906.hp2
HG06807.hp1
HG06807.hp2
NA18906.hp2
 intron_variant MODIFIER c.727+136T>A
c.727+136T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477155
chr21:42477156 C
C
 CAGCCCGG
others(25): Show 
CAGCCCGGGGGTGCCCCACACCCTCTGTCCCAT
 1 a0004c0010t0001g0066
a0004c0010t0001g0066
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.727+134_727+135ins
others(32): Show 
c.727+134_727+135insATGGGACAGAGGGTGTGGGGCACCCCCGGG
CT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477156
chr21:42477166 A
A
 ATGCCCCA
others(25): Show 
ATGCCCCACACCCTCTGTCCCACAGCCCGGGGG
 11 a0001c0001t0001g0054
a0001c0001t0001g0207
a0001c0001t0002g0142
others(8): Show 
a0001c0001t0001g0054
a0001c0001t0001g0207
a0001c0001t0002g0142
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0002t0001g0012
a0001c0002t0001g0131
 13 HG00408.hp1
HG00597.hp1
HG02145.hp1
others(10): Show 
HG00408.hp1
HG00597.hp1
HG02145.hp1
HG02258.hp1
HG03453.hp2
HG03710.hp2
NA18612.hp1
NA18969.hp2
NA18990.hp2
NA18999.hp2
NA19005.hp2
NA19081.hp1
NA19088.hp1
 intron_variant MODIFIER c.727+124_727+125ins
others(32): Show 
c.727+124_727+125insCCCCCGGGCTGTGGGACAGAGGGTGTGGGG
CA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477166
chr21:42477166 A
A
 ATGCCCCA
others(107): Show 
ATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGC
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGG
 2 a0001c0001t0001g0283
a0007c0012t0001g0273
a0001c0001t0001g0283
a0007c0012t0001g0273
 2 HG02735.hp2
HG03834.hp1
HG02735.hp2
HG03834.hp1
 intron_variant MODIFIER c.727+124_727+125ins
others(114): Show 
c.727+124_727+125insCCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG
CACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477166
chr21:42477166 A
A
 ATGCCCCA
others(139): Show 
ATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGC
CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGG
 1 a0001c0001t0003g0281
a0001c0001t0003g0281
 1 HG00597.hp2
HG00597.hp2
 intron_variant MODIFIER c.727+124_727+125ins
others(146): Show 
c.727+124_727+125insCCCCCGGGCTGTGGGACAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGA
CAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477166
chr21:42477166 A
A
 G
G
 75 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0161
others(72): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0161
a0001c0001t0001g0193
a0001c0001t0001g0244
a0001c0001t0001g0248
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0032
a0001c0001t0002g0152
a0001c0001t0002g0197
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0304
a0001c0001t0002g0333
a0001c0001t0002g0353
a0001c0001t0003g0019
a0001c0001t0003g0148
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0192
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0002t0001g0083
a0001c0002t0001g0090
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0002g0006
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0094
a0001c0002t0002g0097
a0001c0002t0002g0101
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0117
a0001c0002t0002g0134
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0009g0077
a0002c0003t0001g0322
a0002c0003t0001g0331
a0002c0003t0001g0347
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0010t0001g0066
a0006c0018t0001g0369
a0010c0009t0001g0366
 82 HG00099.hp2
HG00323.hp2
HG00741.hp2
others(79): Show 
HG00099.hp2
HG00323.hp2
HG00741.hp2
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01433.hp2
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01884.hp1
HG01891.hp1
HG01891.hp2
HG01952.hp1
HG01975.hp2
HG01993.hp1
HG02055.hp2
HG02109.hp2
HG02132.hp1
HG02145.hp2
HG02155.hp2
HG02293.hp2
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02647.hp2
HG02717.hp1
HG02809.hp2
HG02886.hp2
HG02897.hp1
HG02965.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG04115.hp1
HG04228.hp2
HG06807.hp2
NA18522.hp1
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18953.hp1
NA18959.hp2
NA18962.hp1
NA18968.hp2
NA18970.hp2
NA18981.hp1
NA18983.hp1
NA19003.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19062.hp2
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp1
 intron_variant MODIFIER c.727+125T>C
c.727+125T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477166
chr21:42477166 ATGCCCCA
others(66): Show 
ATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGTCCCACAGCCCGGGGG
 A
A
 3 a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0017t0001g0354
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0017t0001g0354
 3 HG01168.hp1
HG02615.hp2
HG02630.hp2
HG01168.hp1
HG02615.hp2
HG02630.hp2
 intron_variant MODIFIER c.727+52_727+124delC
others(72): Show 
c.727+52_727+124delCCCCCGGGCTGTGGGACAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477166
chr21:42477172 C
C
 T
T
 15 a0001c0001t0001g0244
a0001c0001t0001g0257
a0001c0001t0002g0197
others(12): Show 
a0001c0001t0001g0244
a0001c0001t0001g0257
a0001c0001t0002g0197
a0001c0002t0001g0114
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0070
a0001c0002t0002g0080
a0001c0002t0002g0091
a0001c0002t0002g0097
a0001c0002t0002g0112
a0001c0002t0003g0218
a0001c0002t0004g0072
a0001c0002t0009g0077
a0002c0003t0001g0322
 17 HG00099.hp2
HG01257.hp2
HG02615.hp1
others(14): Show 
HG00099.hp2
HG01257.hp2
HG02615.hp1
HG03098.hp2
HG03579.hp2
HG03688.hp1
NA18953.hp1
NA18968.hp2
NA18970.hp2
NA18981.hp1
NA18983.hp1
NA19055.hp2
NA19059.hp1
NA19062.hp2
NA19074.hp1
NA19075.hp2
NA19089.hp1
 intron_variant MODIFIER c.727+119G>A
c.727+119G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477172
chr21:42477177 C
C
 T
T
 1 a0001c0001t0011g0034
a0001c0001t0011g0034
 1 HG06807.hp1
HG06807.hp1
 intron_variant MODIFIER c.727+114G>A
c.727+114G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477177
chr21:42477182 GACCCCTC
others(2): Show 
GACCCCTCCA
 G
G
 3 a0001c0001t0001g0042
a0001c0001t0002g0198
a0001c0001t0006g0174
a0001c0001t0001g0042
a0001c0001t0002g0198
a0001c0001t0006g0174
 3 HG00423.hp2
HG02132.hp2
NA18948.hp2
HG00423.hp2
HG02132.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+100_727+108del
others(9): Show 
c.727+100_727+108delTGGAGGGGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477182
chr21:42477183 A
A
 ACCCCTCC
others(198): Show 
ACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGC
CCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTG
CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC
CTCTGC
 1 a0001c0001t0004g0192
a0001c0001t0004g0192
 1 HG03688.hp2
HG03688.hp2
 intron_variant MODIFIER c.727+107_727+108ins
others(205): Show 
c.727+107_727+108insGCAGAGGGTGTAGGGCACCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGG
GGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG
GTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC
ACCCCCGGGCTGTGGAGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477183
chr21:42477183 A
A
 ACCCCTCC
others(526): Show 
ACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACC
CTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCC
CTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCC
ACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC
ACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCT
GACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCC
ACCCCACAGCCCGGGGATGCCCCACACCCTCTGC
 1 a0001c0002t0002g0099
a0001c0002t0002g0099
 1 HG00438.hp1
HG00438.hp1
 intron_variant MODIFIER c.727+107_727+108ins
others(533): Show 
c.727+107_727+108insGCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGG
GGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGG
CTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGT
GGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAG
GGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477183
chr21:42477183 A
A
 ACCCCTCC
others(230): Show 
ACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGC
CCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACC
CTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGC
 1 a0001c0001t0001g0259
a0001c0001t0001g0259
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.727+107_727+108ins
others(237): Show 
c.727+107_727+108insGCAGAGGGTGTGGGGCACCCCCGGGCTGTG
GGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGG
CTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGT
GGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477183
chr21:42477183 A
A
 ACCCCTCC
others(157): Show 
ACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG
CCCCACACCCTCTGC
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.727+107_727+108ins
others(164): Show 
c.727+107_727+108insGCAGAGGGTGTGGGGCACCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGG
GGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGG
GTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477183
chr21:42477183 A
A
 C
C
 141 a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
others(138): Show 
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0054
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0190
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0274
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0186
a0001c0001t0002g0214
a0001c0001t0002g0292
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0343
a0001c0001t0002g0352
a0001c0001t0002g0365
a0001c0001t0003g0015
a0001c0001t0003g0019
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0281
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0123
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0011
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0079
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0108
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0116
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0006t0001g0075
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0337
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0010t0001g0066
a0005c0007t0001g0209
a0006c0018t0001g0369
a0007c0012t0001g0273
a0009c0014t0003g0189
a0010c0009t0001g0366
 152 HG00099.hp1
HG00140.hp1
HG00280.hp2
others(149): Show 
HG00099.hp1
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00597.hp1
HG00597.hp2
HG00609.hp2
HG00621.hp2
HG01081.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02109.hp1
HG02109.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02523.hp1
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02615.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG03017.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp2
NA18522.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18942.hp2
NA18946.hp1
NA18946.hp2
NA18952.hp1
NA18957.hp2
NA18962.hp1
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18990.hp1
NA18990.hp2
NA18997.hp2
NA18999.hp1
NA18999.hp2
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp2
NA19059.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA19240.hp1
NA20300.hp1
NA20805.hp2
NA20905.hp1
 intron_variant MODIFIER c.727+108T>G
c.727+108T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477183
chr21:42477185 C
C
 T
T
 1 a0001c0001t0001g0305
a0001c0001t0001g0305
 1 HG03471.hp1
HG03471.hp1
 intron_variant MODIFIER c.727+106G>A
c.727+106G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477185
chr21:42477192 C
C
 T
T
 3 a0001c0001t0001g0042
a0001c0001t0002g0198
a0001c0001t0006g0174
a0001c0001t0001g0042
a0001c0001t0002g0198
a0001c0001t0006g0174
 3 HG00423.hp2
HG02132.hp2
NA18948.hp2
HG00423.hp2
HG02132.hp2
NA18948.hp2
 intron_variant MODIFIER c.727+99G>A
c.727+99G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477192
chr21:42477192 CCCCACAG
others(25): Show 
CCCCACAGCCCGGGGATGCCCCACACCCTCTGT
 C
C
 38 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0146
others(35): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0146
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0193
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0309
a0001c0001t0001g0317
a0001c0001t0001g0359
a0001c0001t0002g0032
a0001c0001t0002g0152
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0296
a0001c0001t0002g0333
a0001c0001t0002g0353
a0001c0001t0003g0196
a0001c0001t0003g0236
a0001c0001t0004g0155
a0001c0001t0004g0170
a0001c0001t0004g0205
a0001c0001t0005g0315
a0001c0001t0006g0179
a0001c0002t0001g0090
a0001c0002t0001g0137
a0001c0002t0002g0101
a0001c0002t0002g0106
a0001c0002t0002g0113
a0001c0002t0002g0211
a0001c0002t0004g0141
a0001c0004t0001g0357
a0002c0003t0001g0330
a0002c0003t0001g0347
a0004c0008t0001g0298
 41 HG00735.hp1
HG00735.hp2
HG01074.hp2
others(38): Show 
HG00735.hp1
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp2
HG02055.hp1
HG02071.hp1
HG02132.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18953.hp2
NA18959.hp2
NA18967.hp2
NA19010.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.727+67_727+98delAC
others(30): Show 
c.727+67_727+98delACAGAGGGTGTGGGGCATCCCCGGGCTGTGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477192
chr21:42477193 C
C
 T
T
 47 a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0199
others(44): Show 
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0199
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0318
a0001c0001t0001g0363
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0159
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0003g0175
a0001c0001t0003g0362
a0001c0001t0004g0169
a0001c0001t0011g0034
a0001c0002t0001g0100
a0001c0002t0001g0120
a0001c0002t0002g0009
a0001c0002t0002g0035
a0001c0002t0002g0068
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0094
a0001c0002t0002g0096
a0001c0002t0002g0115
a0001c0002t0002g0134
a0001c0002t0004g0072
a0002c0003t0001g0323
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0356
a0002c0003t0003g0262
 49 HG00099.hp2
HG01070.hp1
HG01070.hp2
others(46): Show 
HG00099.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01123.hp2
HG01255.hp2
HG01361.hp2
HG01433.hp1
HG01952.hp1
HG01993.hp1
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02148.hp1
HG02155.hp2
HG02559.hp1
HG02630.hp1
HG02717.hp1
HG02717.hp2
HG03041.hp1
HG03041.hp2
HG03453.hp1
HG03540.hp2
HG03654.hp1
HG03704.hp1
HG03834.hp2
HG03942.hp2
HG06807.hp1
NA18943.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18980.hp2
NA18987.hp2
NA18994.hp2
NA18998.hp2
NA19004.hp1
NA19063.hp2
NA19072.hp1
NA19072.hp2
NA19079.hp2
NA20129.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
 intron_variant MODIFIER c.727+98G>A
c.727+98G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477193
chr21:42477196 A
A
 T
T
 15 a0001c0001t0003g0019
a0001c0001t0003g0148
a0001c0001t0003g0221
others(12): Show 
a0001c0001t0003g0019
a0001c0001t0003g0148
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0008g0306
a0001c0002t0001g0012
a0001c0002t0001g0131
a0001c0002t0003g0126
 17 HG01109.hp2
HG01167.hp2
HG01169.hp1
others(14): Show 
HG01109.hp2
HG01167.hp2
HG01169.hp1
HG01884.hp1
HG01891.hp1
HG02145.hp1
HG02145.hp2
HG02258.hp1
HG02572.hp2
HG02809.hp2
HG02897.hp1
HG02965.hp1
HG03139.hp2
HG03453.hp2
HG03486.hp1
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.727+95T>A
c.727+95T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477196
chr21:42477207 A
A
 G
G
 135 a0001c0001t0001g0004
a0001c0001t0001g0028
a0001c0001t0001g0042
others(132): Show 
a0001c0001t0001g0004
a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0053
a0001c0001t0001g0062
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0190
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0233
a0001c0001t0001g0245
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0279
a0001c0001t0001g0283
a0001c0001t0001g0288
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0198
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0253
a0001c0001t0003g0361
a0001c0001t0004g0169
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0006g0174
a0001c0001t0007g0210
a0001c0002t0001g0039
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0079
a0001c0002t0002g0081
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0094
a0001c0002t0002g0096
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0108
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0006t0001g0075
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0356
a0002c0003t0003g0262
a0004c0010t0001g0066
a0005c0007t0001g0209
a0010c0009t0001g0366
 144 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(141): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00423.hp2
HG00597.hp1
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02040.hp1
HG02040.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02132.hp2
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG02886.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03209.hp1
HG03491.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03834.hp1
HG03942.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18942.hp2
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18960.hp1
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18977.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp2
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19059.hp1
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.727+84T>C
c.727+84T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477207
chr21:42477207 ATGCCCCA
others(25): Show 
ATGCCCCACACCCTCTGTCCCACAGCCCGGGGG
 A
A
 2 a0001c0001t0001g0305
a0001c0001t0003g0019
a0001c0001t0001g0305
a0001c0001t0003g0019
 3 HG01167.hp2
HG01169.hp1
HG03471.hp1
HG01167.hp2
HG01169.hp1
HG03471.hp1
 intron_variant MODIFIER c.727+52_727+83delCC
others(30): Show 
c.727+52_727+83delCCCCCGGGCTGTGGGACAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477207
chr21:42477213 C
C
 T
T
 9 a0001c0001t0001g0053
a0001c0001t0001g0233
a0001c0001t0002g0299
others(6): Show 
a0001c0001t0001g0053
a0001c0001t0001g0233
a0001c0001t0002g0299
a0001c0002t0001g0121
a0001c0002t0002g0011
a0001c0002t0002g0070
a0001c0002t0002g0094
a0001c0002t0002g0112
a0002c0003t0001g0331
 10 HG01123.hp2
HG01891.hp2
HG02027.hp1
others(7): Show 
HG01123.hp2
HG01891.hp2
HG02027.hp1
HG02451.hp2
HG02622.hp2
NA18968.hp2
NA18980.hp2
NA18981.hp1
NA19059.hp1
NA19089.hp1
 intron_variant MODIFIER c.727+78G>A
c.727+78G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477213
chr21:42477223 G
G
 GACCCCTC
others(2): Show 
GACCCCTCCA
 4 a0001c0001t0001g0310
a0001c0002t0002g0094
a0001c0002t0002g0108
others(1): Show 
a0001c0001t0001g0310
a0001c0002t0002g0094
a0001c0002t0002g0108
a0007c0012t0001g0273
 4 HG01123.hp2
HG02735.hp2
NA18942.hp2
others(1): Show 
HG01123.hp2
HG02735.hp2
NA18942.hp2
NA18980.hp1
 intron_variant MODIFIER c.727+67_727+68insTG
others(7): Show 
c.727+67_727+68insTGGAGGGGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GACCCCTC
others(198): Show 
GACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAG
CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT
GCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACAC
CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC
CCTCCA
 1 a0001c0001t0001g0040
a0001c0001t0001g0040
 1 HG03209.hp2
HG03209.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(203): Show 
c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAG
TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGG
CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATC
CCCGGGCTGTGGGGTGGAGGGGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GACCCCTC
others(43): Show 
GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCC
A
 1 a0001c0001t0004g0158
a0001c0001t0004g0158
 1 HG00621.hp1
HG00621.hp1
 intron_variant MODIFIER c.727+67_727+68insTG
others(48): Show 
c.727+67_727+68insTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGAGTGGAGGGGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(2): Show 
GCCCCCTCCA
 7 a0001c0001t0001g0233
a0001c0001t0001g0335
a0001c0001t0002g0299
others(4): Show 
a0001c0001t0001g0233
a0001c0001t0001g0335
a0001c0001t0002g0299
a0001c0001t0003g0064
a0001c0002t0002g0099
a0001c0002t0002g0127
a0001c0002t0003g0218
 7 HG00323.hp2
HG00438.hp1
HG02451.hp2
others(4): Show 
HG00323.hp2
HG00438.hp1
HG02451.hp2
HG02622.hp2
NA18997.hp2
NA19062.hp2
NA19088.hp1
 intron_variant MODIFIER c.727+67_727+68insTG
others(7): Show 
c.727+67_727+68insTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(403): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCACAG
CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGT
GCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACAC
CCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC
CCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCC
CACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCG
GGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCC
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCA
 1 a0002c0003t0001g0331
a0002c0003t0001g0331
 1 HG01891.hp2
HG01891.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(408): Show 
c.727+67_727+68insTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGT
CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG
TGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACC
CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG
TGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGA
GGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGCAGAGGGTGTGGG
GCATCCCCGGGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(444): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCC
ACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC
CCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTC
CACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCG
GGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCC
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC
CA
 1 a0001c0001t0001g0053
a0001c0001t0001g0053
 1 NA18980.hp2
NA18980.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(449): Show 
c.727+67_727+68insTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGG
GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGG
CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG
TAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATC
CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG
TGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGA
GGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGG
GCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCG
GGCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(84): Show 
GCCCCCTCCACCCCACAGCCCGGGGATGCCCTACACCCTCTGCCCCCTCC
ACCCCACAGCCCGGGGATGCCCTACACCCTCTGCCCCCTCCA
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(89): Show 
c.727+67_727+68insTGGAGGGGGCAGAGGGTGTAGGGCATCCCCGG
GCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCATCCCCGGGCTGTGGGG
TGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(43): Show 
GCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCC
A
 1 a0006c0018t0001g0369
a0006c0018t0001g0369
 1 HG02109.hp2
HG02109.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(48): Show 
c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGGGTGGAGGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477223 G
G
 GCCCCCTC
others(280): Show 
GCCCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCC
ACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCC
CCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTC
CACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA
 1 a0001c0001t0001g0368
a0001c0001t0001g0368
 1 HG02717.hp2
HG02717.hp2
 intron_variant MODIFIER c.727+67_727+68insTG
others(285): Show 
c.727+67_727+68insTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGG
GCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTG
TGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATC
CCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTG
TGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGA
GGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477223
chr21:42477224 T
T
 A
A
 157 a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0028
others(154): Show 
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0183
a0001c0001t0001g0190
a0001c0001t0001g0195
a0001c0001t0001g0206
a0001c0001t0001g0223
a0001c0001t0001g0245
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0283
a0001c0001t0001g0286
a0001c0001t0001g0288
a0001c0001t0001g0307
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0198
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0304
a0001c0001t0002g0327
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0281
a0001c0001t0003g0361
a0001c0001t0004g0169
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0006g0174
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0079
a0001c0002t0002g0081
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0096
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0006t0001g0075
a0001c0016t0004g0187
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0356
a0002c0003t0003g0262
a0004c0008t0001g0272
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0009c0014t0003g0189
a0010c0009t0001g0366
 169 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(166): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00597.hp1
HG00597.hp2
HG00621.hp2
HG00741.hp1
HG00741.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp1
HG02040.hp2
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02809.hp2
HG02818.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02970.hp2
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp1
NA18943.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18954.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18964.hp1
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18971.hp2
NA18977.hp2
NA18981.hp1
NA18987.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp2
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19059.hp1
NA19063.hp1
NA19063.hp2
NA19072.hp1
NA19079.hp2
NA19081.hp1
NA19089.hp1
NA19240.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.727+67A>T
c.727+67A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477224
chr21:42477224 T
T
 C
C
 54 a0001c0001t0001g0024
a0001c0001t0001g0040
a0001c0001t0001g0053
others(51): Show 
a0001c0001t0001g0024
a0001c0001t0001g0040
a0001c0001t0001g0053
a0001c0001t0001g0063
a0001c0001t0001g0199
a0001c0001t0001g0207
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0258
a0001c0001t0001g0266
a0001c0001t0001g0274
a0001c0001t0001g0279
a0001c0001t0001g0310
a0001c0001t0001g0318
a0001c0001t0001g0335
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0061
a0001c0001t0002g0197
a0001c0001t0002g0292
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0316
a0001c0001t0003g0064
a0001c0001t0003g0175
a0001c0001t0003g0362
a0001c0001t0004g0158
a0001c0002t0001g0100
a0001c0002t0001g0121
a0001c0002t0002g0010
a0001c0002t0002g0013
a0001c0002t0002g0068
a0001c0002t0002g0080
a0001c0002t0002g0082
a0001c0002t0002g0091
a0001c0002t0002g0094
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0108
a0001c0002t0002g0117
a0001c0002t0002g0127
a0001c0002t0003g0067
a0001c0002t0003g0218
a0001c0002t0009g0077
a0002c0003t0001g0043
a0002c0003t0001g0331
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0006c0018t0001g0369
a0007c0012t0001g0273
 57 HG00323.hp2
HG00438.hp1
HG00621.hp1
others(54): Show 
HG00323.hp2
HG00438.hp1
HG00621.hp1
HG01069.hp2
HG01071.hp2
HG01106.hp1
HG01123.hp1
HG01123.hp2
HG01258.hp1
HG01496.hp2
HG01891.hp2
HG02027.hp1
HG02109.hp2
HG02148.hp1
HG02451.hp2
HG02559.hp1
HG02559.hp2
HG02622.hp2
HG02717.hp1
HG02717.hp2
HG02735.hp2
HG02738.hp1
HG02886.hp2
HG02965.hp2
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03453.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18942.hp2
NA18953.hp1
NA18965.hp2
NA18967.hp1
NA18970.hp2
NA18980.hp1
NA18980.hp2
NA18983.hp1
NA18997.hp2
NA19055.hp2
NA19062.hp1
NA19062.hp2
NA19067.hp1
NA19072.hp2
NA19074.hp1
NA19075.hp2
NA19088.hp1
 intron_variant MODIFIER c.727+67A>G
c.727+67A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477224
chr21:42477224 T
T
 TCCACAGC
others(384): Show 
TCCACAGCCCGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC
GGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCC
CCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGTGCCCACACCCTCT
GACCCCTCCACTCACAGCCCGGGGTGCCCCACACCTCTGCCCCCTCCACC
CCACAGCCCGGGATGCCCCACACCCTCTGCCCCTCCACTCCACAGCCCGG
GGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC
ACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCACACCCTCTG
TCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.727+66_727+67insGT
others(389): Show 
c.727+66_727+67insGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCG
GGCTGTGGGACAGAGGGTGTGGGCATCCCCGGGCTGTGGGGTGGAGGGGT
CAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG
TGGGGCATCCCCGGGCTGTGGAGTGGAGGGGCAGAGGGTGTGGGGCATCC
CGGGCTGTGGGGTGGAGGGGGCAGAGGTGTGGGGCACCCCGGGCTGTGAG
TGGAGGGGTCAGAGGGTGTGGGCACCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC
GGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477224
chr21:42477224 T
T
 TCCCACAG
others(394): Show 
TCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG
CCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACC
CTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCC
CTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGG
GGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCC
ACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCT
GCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCC
AC
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.727+66_727+67insGT
others(399): Show 
c.727+66_727+67insGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCG
GGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGA
GTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCAT
CCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCT
GTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG
AGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAG
AGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGG
GGCACCCCCGGGCTGTGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477224
chr21:42477224 T
T
 TCCCACAG
others(362): Show 
TCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTG
CCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACC
CTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCC
CTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCC
ACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCC
ACACCCTCTGACCCCTCCAC
 1 a0001c0001t0003g0184
a0001c0001t0003g0184
 1 NA18962.hp2
NA18962.hp2
 intron_variant MODIFIER c.727+66_727+67insGT
others(367): Show 
c.727+66_727+67insGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCG
GGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGG
GTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGG
TCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGT
GTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCAT
CCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCT
GTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGG
AGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477224
chr21:42477225 C
C
 CCCACAGC
others(148): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACT
 2 a0001c0001t0001g0037
a0001c0001t0001g0052
a0001c0001t0001g0037
a0001c0001t0001g0052
 2 NA19057.hp2
NA19088.hp2
NA19057.hp2
NA19088.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(153): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(303): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCA
CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
ACCCCTCCACT
 3 a0001c0001t0003g0002
a0001c0001t0003g0271
a0001c0001t0003g0328
a0001c0001t0003g0002
a0001c0001t0003g0271
a0001c0001t0003g0328
 5 NA18939.hp1
NA18998.hp1
NA19057.hp1
others(2): Show 
NA18939.hp1
NA18998.hp1
NA19057.hp1
NA19070.hp1
NA19077.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(308): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCATCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(189): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0056
a0001c0001t0001g0056
 1 NA18955.hp1
NA18955.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(194): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(116): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0003g0177
a0001c0001t0003g0177
 1 HG00423.hp1
HG00423.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(121): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
AGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(435): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTA
CACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTG
ACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0002g0348
a0001c0001t0002g0348
 1 NA18960.hp1
NA18960.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(440): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGACA
GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCC
CGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(34): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0003g0176
a0001c0001t0003g0176
 1 NA19070.hp2
NA19070.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(39): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(271): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0051
a0001c0001t0001g0051
 1 NA18948.hp1
NA18948.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(276): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(385): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCA
CACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0026
a0001c0001t0001g0026
 2 HG02056.hp1
NA19079.hp1
HG02056.hp1
NA19079.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(390): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC
CGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(198): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACT
 1 a0001c0001t0001g0269
a0001c0001t0001g0269
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(203): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(75): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACT
 11 a0001c0001t0001g0020
a0001c0001t0001g0057
a0001c0001t0001g0058
others(8): Show 
a0001c0001t0001g0020
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0060
a0001c0001t0001g0181
a0001c0001t0001g0202
a0001c0001t0001g0282
a0001c0001t0001g0287
a0001c0001t0003g0030
a0001c0001t0003g0182
a0001c0002t0001g0098
 13 HG00408.hp2
HG02056.hp2
HG02135.hp1
others(10): Show 
HG00408.hp2
HG02056.hp2
HG02135.hp1
HG02155.hp1
HG02165.hp1
HG02523.hp2
NA18987.hp1
NA18988.hp1
NA18997.hp1
NA19054.hp1
NA19074.hp2
NA19081.hp2
NA19087.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(80): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(271): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACT
 2 a0001c0002t0002g0007
a0001c0002t0002g0076
a0001c0002t0002g0007
a0001c0002t0002g0076
 3 HG00738.hp1
HG01074.hp1
HG01515.hp1
HG00738.hp1
HG01074.hp1
HG01515.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(276): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(198): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACT
 1 a0001c0001t0001g0263
a0001c0001t0001g0263
 1 HG02683.hp1
HG02683.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(203): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(321): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0002c0003t0001g0303
a0002c0003t0001g0303
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(326): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(157): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACT
 1 a0001c0001t0001g0049
a0001c0001t0001g0049
 1 HG01255.hp1
HG01255.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(162): Show 
c.727+65_727+66insAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(75): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0229
a0001c0001t0001g0229
 1 HG01243.hp2
HG01243.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(80): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(280): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCC
TCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACT
 1 a0001c0001t0002g0230
a0001c0001t0002g0230
 1 NA18747.hp1
NA18747.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(285): Show 
c.727+65_727+66insAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC
TGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(321): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0003g0178
a0001c0001t0003g0178
 1 NA19077.hp2
NA19077.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(326): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
GGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCACAGC
others(603): Show 
CCCACAGCCCGGGGGTGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGC
CCCACACCCTCTGTCCCACAGCCCGGGGGATGCCCCACACCCTCTGTCCC
ACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCT
GTCCCACAGCCCGGGGGTGCCCCACACCCTCTGTCCCACAGCCCGGGGGA
TGCCCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGTC
CCACAGCCCGGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCA
CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
ACCCCTCCACT
 1 a0001c0001t0003g0295
a0001c0001t0003g0295
 1 NA19080.hp2
NA19080.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(608): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACA
GAGGGTGTGGGGCATCCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCCGGGCTGTGGGACAGA
GGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCACCCCCG
GGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCAT
CCCCCGGGCTGTGGGACAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACA
GAGGGTGTGGGGCACCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(157): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0001t0001g0266
a0001c0001t0001g0266
 1 NA18967.hp1
NA18967.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(162): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
T
 1 a0001c0001t0001g0279
a0001c0001t0001g0279
 1 NA18965.hp2
NA18965.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(48): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0003g0362
a0001c0001t0003g0362
 1 HG02717.hp1
HG02717.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(171): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGAGG
GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(207): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0002t0002g0013
a0001c0002t0002g0013
 2 HG01069.hp2
HG01071.hp2
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(212): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(84): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0002t0001g0121
a0001c0002t0001g0121
 1 HG02027.hp1
HG02027.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(89): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(157): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0001t0003g0175
a0001c0001t0003g0175
 1 NA19072.hp2
NA19072.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(162): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(591): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGATGCCCCACACCCTCTGTCCC
ACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGG
GGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCC
ACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCT
GACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAG
CCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGAT
GCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACAC
CCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACC
CCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0063
a0001c0001t0001g0063
 1 HG02148.hp1
HG02148.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(596): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCA
GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTG
GGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCCGGGCTGT
GGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(681): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCA
CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
ACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGC
CCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACC
CTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCC
CTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCC
ACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0002t0001g0100
a0001c0002t0001g0100
 1 HG03942.hp2
HG03942.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(686): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCC
CGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGC
ATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGG
CTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT
GGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(321): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0286
a0001c0001t0001g0286
 1 NA18952.hp1
NA18952.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(326): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(239): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0029
a0001c0001t0001g0029
 2 NA18941.hp2
NA19054.hp2
NA18941.hp2
NA19054.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(244): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(116): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0023
a0001c0001t0001g0023
 1 HG02572.hp1
HG02572.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(121): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(157): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0001t0003g0147
a0001c0001t0003g0147
 1 HG02258.hp2
HG02258.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(162): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(189): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0007g0208
a0001c0001t0007g0208
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(194): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(116): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0041
a0001c0001t0001g0041
 1 HG02970.hp2
HG02970.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(121): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(157): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 1 a0009c0014t0003g0189
a0009c0014t0003g0189
 1 HG00621.hp2
HG00621.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(162): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(75): Show 
CCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCC
CGGGGGTGCCCTACACCCTCTGACCCCTCCACT
 5 a0001c0001t0002g0197
a0001c0002t0002g0010
a0001c0002t0002g0080
others(2): Show 
a0001c0001t0002g0197
a0001c0002t0002g0010
a0001c0002t0002g0080
a0001c0002t0002g0097
a0001c0002t0009g0077
 6 NA18953.hp1
NA18970.hp2
NA18983.hp1
others(3): Show 
NA18953.hp1
NA18970.hp2
NA18983.hp1
NA19055.hp2
NA19074.hp1
NA19075.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(80): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0002t0003g0067
a0001c0002t0003g0067
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(171): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
T
 5 a0001c0001t0001g0367
a0001c0001t0002g0292
a0001c0002t0002g0117
others(2): Show 
a0001c0001t0001g0367
a0001c0001t0002g0292
a0001c0002t0002g0117
a0002c0003t0001g0043
a0003c0005t0002g0085
 5 HG01258.hp1
HG02886.hp2
HG03239.hp1
others(2): Show 
HG01258.hp1
HG02886.hp2
HG03239.hp1
HG03654.hp2
NA19067.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(48): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(207): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 1 a0001c0001t0002g0061
a0001c0001t0002g0061
 1 NA19062.hp1
NA19062.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(212): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(312): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGTCCCATAGCCCGGGGGTGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGG
GGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCA
CACCCTCTGACCCCTCCACT
 1 a0001c0002t0002g0091
a0001c0002t0002g0091
 1 HG03579.hp2
HG03579.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(317): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTATGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(371): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGATGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0002t0002g0082
a0001c0002t0002g0082
 1 HG03834.hp2
HG03834.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(376): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(617): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCC
TCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCA
CACCCTCTGACCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGC
CCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACT
 1 a0001c0002t0002g0068
a0001c0002t0002g0068
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(622): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTA
GGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCC
CGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG
GGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(125): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0274
a0001c0001t0001g0274
 1 HG02738.hp1
HG02738.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(130): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
T
 2 a0003c0005t0002g0129
a0003c0013t0002g0191
a0003c0005t0002g0129
a0003c0013t0002g0191
 2 HG01106.hp1
HG01123.hp1
HG01106.hp1
HG01123.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(48): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(239): Show 
CCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0199
a0001c0001t0001g0199
 1 HG02559.hp1
HG02559.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(244): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGAGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(321): Show 
CCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCCCGGG
GATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0318
a0001c0001t0001g0318
 1 HG03041.hp2
HG03041.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(326): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGAGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(517): Show 
CCCCTCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGG
GGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCA
CACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
ACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGC
CCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACT
 2 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0239
a0001c0001t0001g0240
 2 HG03453.hp1
HG03540.hp2
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(522): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGAGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGC
TGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCC
CGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGG
GGTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACCCCTCAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
T
 1 a0001c0001t0002g0297
a0001c0001t0002g0297
 1 HG06807.hp2
HG06807.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(48): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGAGGGGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(2): Show 
CCCCTCCACT
 125 a0001c0001t0001g0004
a0001c0001t0001g0028
a0001c0001t0001g0042
others(122): Show 
a0001c0001t0001g0004
a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0145
a0001c0001t0001g0149
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0183
a0001c0001t0001g0190
a0001c0001t0001g0195
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0283
a0001c0001t0001g0288
a0001c0001t0001g0307
a0001c0001t0001g0313
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0142
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0198
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0343
a0001c0001t0002g0349
a0001c0001t0002g0352
a0001c0001t0002g0365
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0281
a0001c0001t0003g0361
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0006g0174
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0123
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0011
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0070
a0001c0002t0002g0079
a0001c0002t0002g0081
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0116
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0006t0001g0075
a0002c0003t0001g0046
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0337
a0002c0003t0001g0356
a0004c0008t0001g0272
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0010c0009t0001g0366
 135 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(132): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp2
HG00323.hp1
HG00423.hp2
HG00597.hp1
HG00597.hp2
HG00741.hp2
HG01070.hp1
HG01071.hp1
HG01081.hp1
HG01081.hp2
HG01099.hp2
HG01109.hp1
HG01109.hp2
HG01167.hp1
HG01243.hp1
HG01257.hp2
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp2
HG01516.hp1
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp2
HG02040.hp2
HG02055.hp2
HG02109.hp1
HG02132.hp2
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02258.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp2
HG02572.hp2
HG02602.hp2
HG02630.hp1
HG02647.hp2
HG02683.hp2
HG02723.hp1
HG02723.hp2
HG02809.hp2
HG02818.hp2
HG02897.hp1
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG03017.hp2
HG03098.hp2
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03654.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp1
HG03942.hp1
HG06807.hp1
NA18522.hp2
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18941.hp1
NA18942.hp1
NA18946.hp1
NA18946.hp2
NA18948.hp2
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18962.hp1
NA18964.hp1
NA18965.hp1
NA18968.hp2
NA18969.hp2
NA18977.hp2
NA18981.hp1
NA18990.hp1
NA18990.hp2
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19059.hp1
NA19063.hp1
NA19079.hp2
NA19081.hp1
NA19089.hp1
NA19240.hp1
NA20300.hp1
NA20752.hp1
NA20805.hp2
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(7): Show 
c.727+65_727+66insAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(280): Show 
CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(285): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTG
GAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(239): Show 
CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 2 a0001c0001t0001g0024
a0001c0001t0001g0252
a0001c0001t0001g0024
a0001c0001t0001g0252
 3 HG02976.hp1
HG03225.hp1
HG03579.hp1
HG02976.hp1
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(244): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(467): Show 
CCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGC
CCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0251
a0001c0001t0001g0251
 1 HG02559.hp2
HG02559.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(472): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCC
CGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGG
GGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(485): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCA
CACCCTCTGCCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCA
CCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0016t0004g0187
a0001c0016t0004g0187
 1 HG02735.hp1
HG02735.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(490): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTG
GAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTA
GGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCC
CGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTG
GAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(43): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
T
 2 a0001c0001t0001g0206
a0001c0002t0001g0120
a0001c0001t0001g0206
a0001c0002t0001g0120
 2 HG01952.hp1
NA18952.hp2
HG01952.hp1
NA18952.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(48): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(412): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACCCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GGTGCCCCACACCCTCTGCCCCCTCCACCCCTCAGCCCGGGGATGCCCCA
CACTCTCTGACCCCTCCACT
 1 a0001c0001t0001g0245
a0001c0001t0001g0245
 1 HG03209.hp1
HG03209.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(417): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGAGTGTGGGGCATCCCC
GGGCTGAGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGAGGGGTG
GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(248): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCC
TCCACT
 1 a0001c0002t0002g0115
a0001c0002t0002g0115
 1 NA20129.hp2
NA20129.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(253): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCA
CCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(125): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 8 a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0002g0017
others(5): Show 
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0002g0017
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0341
a0001c0001t0004g0169
a0002c0003t0001g0323
 9 HG01070.hp2
HG02040.hp1
HG02071.hp2
others(6): Show 
HG01070.hp2
HG02040.hp1
HG02071.hp2
HG02074.hp1
HG02083.hp2
NA18943.hp2
NA18956.hp1
NA18987.hp2
NA19063.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(130): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(207): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACT
 2 a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0332
a0002c0003t0001g0345
 2 HG01255.hp2
HG01433.hp1
HG01255.hp2
HG01433.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(212): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGC
CCTACACCCTCTGCCCCCTCCACT
 1 a0001c0002t0002g0096
a0001c0002t0002g0096
 1 NA18998.hp2
NA18998.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(171): Show 
c.727+65_727+66insAGTGGAGGGGGCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(494): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCA
CAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACTCCACAGCCCGGG
GGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCTA
CACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CT
 2 a0001c0002t0001g0089
a0001c0002t0001g0125
a0001c0002t0001g0089
a0001c0002t0001g0125
 2 HG00741.hp1
HG01192.hp1
HG00741.hp1
HG01192.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(499): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGG
TGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGC
TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTG
GAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCA
GAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCC
CGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(330): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0002c0003t0001g0326
a0002c0003t0001g0326
 1 NA20752.hp2
NA20752.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(335): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTG
GAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(167): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCCTCCACCCCACAGCCCGGGGGTG
CCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0002g0355
a0001c0001t0002g0355
 1 NA19072.hp1
NA19072.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(172): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTG
GGGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGG
GGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(166): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGC
CCCACACCCTCTGACCCCTCCACT
 3 a0001c0001t0002g0334
a0001c0001t0002g0342
a0001c0001t0002g0351
a0001c0001t0002g0334
a0001c0001t0002g0342
a0001c0001t0002g0351
 3 NA18954.hp1
NA18971.hp2
NA18994.hp2
NA18954.hp1
NA18971.hp2
NA18994.hp2
 intron_variant MODIFIER c.727+65_727+66insAG
others(171): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(84): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCTACACCCTCTGACCCCTCCACT
 1 a0001c0001t0002g0350
a0001c0001t0002g0350
 1 NA19004.hp1
NA19004.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(89): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCC
GGGCTGTGGAGTGGAGGGGTCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 CCCCTCCA
others(125): Show 
CCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCAC
CCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 2 a0002c0003t0001g0346
a0002c0003t0003g0262
a0002c0003t0001g0346
a0002c0003t0003g0262
 2 HG01361.hp2
NA20805.hp1
HG01361.hp2
NA20805.hp1
 intron_variant MODIFIER c.727+65_727+66insAG
others(130): Show 
c.727+65_727+66insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
GGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477225 C
C
 T
T
 37 a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0146
others(34): Show 
a0001c0001t0001g0018
a0001c0001t0001g0033
a0001c0001t0001g0146
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0193
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0309
a0001c0001t0001g0317
a0001c0001t0001g0359
a0001c0001t0002g0032
a0001c0001t0002g0152
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0296
a0001c0001t0002g0333
a0001c0001t0003g0196
a0001c0001t0003g0236
a0001c0001t0004g0155
a0001c0001t0004g0170
a0001c0001t0004g0205
a0001c0001t0005g0315
a0001c0001t0006g0179
a0001c0002t0001g0090
a0001c0002t0001g0137
a0001c0002t0002g0101
a0001c0002t0002g0106
a0001c0002t0002g0113
a0001c0002t0002g0211
a0001c0002t0004g0141
a0002c0003t0001g0153
a0002c0003t0001g0330
a0002c0003t0001g0347
a0004c0008t0001g0298
 40 HG00735.hp1
HG00735.hp2
HG01074.hp2
others(37): Show 
HG00735.hp1
HG00735.hp2
HG01074.hp2
HG01099.hp1
HG01168.hp2
HG01169.hp2
HG01175.hp2
HG01257.hp1
HG01258.hp2
HG01261.hp1
HG01496.hp1
HG01516.hp2
HG01517.hp1
HG01943.hp2
HG01978.hp2
HG02071.hp1
HG02132.hp1
HG02280.hp1
HG02486.hp1
HG02602.hp1
HG02896.hp1
HG02897.hp2
HG02922.hp1
HG02976.hp2
HG03139.hp1
HG03471.hp2
HG03486.hp2
HG04228.hp1
HG04228.hp2
NA18522.hp1
NA18906.hp2
NA18944.hp2
NA18945.hp2
NA18953.hp2
NA18967.hp2
NA19010.hp1
NA19087.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
 intron_variant MODIFIER c.727+66G>A
c.727+66G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477225
chr21:42477228 A
A
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0368
a0001c0001t0001g0040
a0001c0001t0001g0368
 2 HG02717.hp2
HG03209.hp2
HG02717.hp2
HG03209.hp2
 intron_variant MODIFIER c.727+63T>A
c.727+63T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477228
chr21:42477234 C
C
 CGGGGATG
others(304): Show 
CGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGG
GATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTG
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCG
 1 a0001c0001t0003g0270
a0001c0001t0003g0270
 1 NA18966.hp2
NA18966.hp2
 intron_variant MODIFIER c.727+56_727+57insCG
others(309): Show 
c.727+56_727+57insCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTG
GGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCC
CGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG
GGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGG
GTGTGGGGCATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGG
CTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGT
GGAGGGGGCAGAGGGTGTGGGGCATCCCC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477234
chr21:42477239 G
G
 A
A
 11 a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0053
others(8): Show 
a0001c0001t0001g0028
a0001c0001t0001g0040
a0001c0001t0001g0053
a0001c0001t0001g0150
a0001c0001t0001g0245
a0001c0001t0001g0258
a0001c0001t0001g0283
a0001c0001t0001g0288
a0001c0001t0004g0158
a0001c0002t0001g0100
a0001c0016t0004g0187
 12 HG00140.hp2
HG00621.hp1
HG02735.hp1
others(9): Show 
HG00140.hp2
HG00621.hp1
HG02735.hp1
HG02965.hp2
HG03209.hp1
HG03209.hp2
HG03834.hp1
HG03942.hp1
HG03942.hp2
NA18980.hp2
NA19059.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.727+52C>T
c.727+52C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477239
chr21:42477239 G
G
 GTGCCCCA
others(116): Show 
GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGA
CCCCTCCACCCCACAGCCCGGGGA
 1 a0008c0015t0001g0289
a0008c0015t0001g0289
 1 NA19075.hp1
NA19075.hp1
 intron_variant MODIFIER c.727+51_727+52insTC
others(121): Show 
c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCA
TCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477239
chr21:42477239 G
G
 GTGCCCCA
others(394): Show 
GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGC
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCAC
TCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGATGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCC
TCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGG
GA
 1 a0001c0001t0001g0185
a0001c0001t0001g0185
 1 NA19089.hp2
NA19089.hp2
 intron_variant MODIFIER c.727+51_727+52insTC
others(399): Show 
c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCA
GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTG
GGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCC
CGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTG
GAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGG
GGGCAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477239
chr21:42477239 G
G
 GTGCCCCA
others(198): Show 
GTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCAC
ACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGC
CCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCAC
TCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCC
CGGGGA
 1 a0001c0001t0001g0059
a0001c0001t0001g0059
 1 NA18940.hp2
NA18940.hp2
 intron_variant MODIFIER c.727+51_727+52insTC
others(203): Show 
c.727+51_727+52insTCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGC
TGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTGGGGCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477239
chr21:42477245 C
C
 CACACCCT
others(280): Show 
CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACCCCACA
GCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG
TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA
CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0010g0160
a0001c0001t0010g0160
 1 HG00438.hp2
HG00438.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(285): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAG
GGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(34): Show 
CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 2 a0001c0001t0001g0244
a0001c0002t0002g0127
a0001c0001t0001g0244
a0001c0002t0002g0127
 2 HG02615.hp1
NA18997.hp2
HG02615.hp1
NA18997.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(39): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(157): Show 
CACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTC
TGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACA
GCCCGGGGGTGCCCT
 1 a0001c0001t0003g0302
a0001c0001t0003g0302
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(162): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(189): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACA
GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0001g0232
a0001c0001t0001g0232
 1 HG04204.hp1
HG04204.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(194): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(198): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC
CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG
TGCCCT
 2 a0001c0001t0001g0003
a0001c0001t0001g0048
a0001c0001t0001g0003
a0001c0001t0001g0048
 4 NA18961.hp2
NA18981.hp2
NA19002.hp2
others(1): Show 
NA18961.hp2
NA18981.hp2
NA19002.hp2
NA19085.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(203): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(75): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 15 a0001c0001t0001g0023
a0001c0001t0001g0172
a0001c0001t0001g0173
others(12): Show 
a0001c0001t0001g0023
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0231
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0278
a0001c0001t0001g0285
a0001c0001t0001g0290
a0001c0001t0003g0027
a0001c0001t0003g0047
a0001c0001t0003g0220
a0001c0001t0003g0268
a0001c0001t0003g0293
a0001c0004t0003g0360
 16 HG00609.hp1
HG02074.hp2
HG02080.hp2
others(13): Show 
HG00609.hp1
HG02074.hp2
HG02080.hp2
HG02083.hp1
HG02622.hp1
HG02647.hp1
HG02809.hp1
HG03225.hp2
HG04115.hp2
HG04199.hp2
NA18944.hp1
NA18979.hp1
NA18983.hp2
NA18988.hp2
NA18994.hp1
NA19003.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(80): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(362): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACA
GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACA
CCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGCC
CCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
CCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0003g0267
a0001c0001t0003g0267
 1 NA19000.hp2
NA19000.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(367): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAG
GGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(280): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACA
GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA
CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 6 a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
others(3): Show 
a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0003g0215
a0001c0001t0003g0277
a0001c0001t0003g0291
 6 NA18940.hp1
NA18954.hp2
NA18955.hp2
others(3): Show 
NA18940.hp1
NA18954.hp2
NA18955.hp2
NA18960.hp2
NA18984.hp2
NA19000.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(285): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCC
CCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAG
GGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAG
GGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(157): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACA
GCCCGGGGGTGCCCT
 2 a0001c0001t0003g0025
a0001c0001t0003g0261
a0001c0001t0003g0025
a0001c0001t0003g0261
 3 HG00642.hp2
HG01069.hp1
HG01175.hp1
HG00642.hp2
HG01069.hp1
HG01175.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(162): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
AGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(148): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGG
TGCCCT
 1 a0001c0001t0001g0329
a0001c0001t0001g0329
 1 HG04204.hp2
HG04204.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(153): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(294): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTC
TGTCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACA
CCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTC
CCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCC
GGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCC
CT
 1 a0001c0001t0001g0321
a0001c0001t0001g0321
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(299): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGT
GGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAG
GGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(148): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGTCCCACA
GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGG
TGCCCT
 4 a0001c0001t0001g0021
a0001c0001t0001g0227
a0001c0002t0001g0071
others(1): Show 
a0001c0001t0001g0021
a0001c0001t0001g0227
a0001c0002t0001g0071
a0001c0006t0001g0074
 5 HG00738.hp2
HG01106.hp2
HG03239.hp2
others(2): Show 
HG00738.hp2
HG01106.hp2
HG03239.hp2
HG03710.hp1
NA20905.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(153): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGGC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCC
CCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGT
GGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(116): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC
CACTCCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0001g0364
a0001c0001t0001g0364
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(121): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(116): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC
CACTCCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0001g0228
a0001c0001t0001g0228
 1 HG01192.hp2
HG01192.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(121): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGGC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(75): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 8 a0001c0001t0001g0005
a0001c0001t0001g0045
a0001c0001t0001g0250
others(5): Show 
a0001c0001t0001g0005
a0001c0001t0001g0045
a0001c0001t0001g0250
a0001c0001t0001g0275
a0001c0001t0003g0164
a0001c0002t0001g0073
a0001c0002t0002g0102
a0006c0018t0001g0369
 9 HG00280.hp1
HG02080.hp1
HG02109.hp2
others(6): Show 
HG00280.hp1
HG02080.hp1
HG02109.hp2
HG02129.hp1
HG03098.hp1
HG03704.hp2
NA18969.hp1
NA18970.hp1
NA19055.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(80): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(116): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC
CACTCCACAGCCCGGGGGTGCCCT
 5 a0001c0001t0003g0001
a0001c0001t0003g0016
a0001c0001t0003g0165
others(2): Show 
a0001c0001t0003g0001
a0001c0001t0003g0016
a0001c0001t0003g0165
a0001c0001t0003g0204
a0001c0001t0003g0276
 10 NA18945.hp1
NA18968.hp1
NA18971.hp1
others(7): Show 
NA18945.hp1
NA18968.hp1
NA18971.hp1
NA18977.hp1
NA18979.hp2
NA18982.hp1
NA18984.hp1
NA19060.hp2
NA19080.hp1
NA19085.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(121): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(75): Show 
CACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCT
 1 a0001c0001t0001g0280
a0001c0001t0001g0280
 1 HG02165.hp2
HG02165.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(80): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGGGTGGAGGGGGC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(517): Show 
CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC
CACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATGCCCCACA
CCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACC
CCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACTCCACAGCCC
GGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCC
CCACACCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCT
CTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCT
CCACTCCACAGCCCGGGGGTGCCCT
 1 a0001c0002t0002g0078
a0001c0002t0002g0078
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.727+45_727+46insAG
others(522): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGG
CATCCCCGGGCTGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGG
GCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGG
TGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGGAGTGGAGGGGT
CAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTG
TGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(280): Show 
CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGATGCCCCACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTC
CACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACA
CCCTCTGACCCCTCCACTCCACAGCCCGGGGGTGCCCT
 3 a0001c0002t0002g0084
a0001c0002t0002g0110
a0001c0002t0002g0139
a0001c0002t0002g0084
a0001c0002t0002g0110
a0001c0002t0002g0139
 3 NA18943.hp1
NA18982.hp2
NA19004.hp2
NA18943.hp1
NA18982.hp2
NA19004.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(285): Show 
c.727+45_727+46insAGGGCACCCCCGGGCTGTGGAGTGGAGGGGTC
AGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAG
GGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGGGGCAGAG
GGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 CACACCCT
others(198): Show 
CACACCCTCTGCCCCCTCCACTCCACAGCCCGGGGGTGCCCTACACCCTC
TGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTC
CACCCCACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACA
GCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGA
TGCCCT
 1 a0001c0002t0002g0095
a0001c0002t0002g0095
 1 HG02129.hp2
HG02129.hp2
 intron_variant MODIFIER c.727+45_727+46insAG
others(203): Show 
c.727+45_727+46insAGGGCATCCCCGGGCTGTGGGGTGGAGGGGGC
AGAGGGTGTAGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGT
GGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCC
CCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGT
GGAGTGGAGGGGGCAGAGGGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477245 C
C
 T
T
 171 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
others(168): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0226
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0247
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0259
a0001c0001t0001g0274
a0001c0001t0001g0279
a0001c0001t0001g0286
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0367
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0003g0002
a0001c0001t0003g0015
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0253
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0009
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0101
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0111
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0004t0001g0357
a0001c0006t0001g0075
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0337
a0002c0003t0001g0356
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0005c0007t0001g0209
a0007c0012t0001g0273
a0009c0014t0003g0189
a0010c0009t0001g0366
 185 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(182): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00280.hp2
HG00323.hp1
HG00597.hp1
HG00609.hp2
HG00621.hp2
HG00639.hp1
HG00735.hp1
HG00735.hp2
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01099.hp2
HG01106.hp1
HG01109.hp1
HG01109.hp2
HG01123.hp1
HG01123.hp2
HG01168.hp2
HG01169.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp1
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp1
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp2
HG01952.hp1
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp1
HG02055.hp1
HG02055.hp2
HG02071.hp2
HG02074.hp1
HG02083.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp2
HG02258.hp1
HG02258.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02486.hp1
HG02486.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp2
HG02622.hp2
HG02647.hp2
HG02683.hp2
HG02717.hp1
HG02735.hp2
HG02738.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03225.hp1
HG03453.hp1
HG03453.hp2
HG03490.hp1
HG03491.hp1
HG03491.hp2
HG03492.hp2
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp2
HG03834.hp2
HG04115.hp1
HG04228.hp1
HG06807.hp2
NA18522.hp1
NA18612.hp1
NA18612.hp2
NA18747.hp2
NA18906.hp1
NA18939.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp2
NA18945.hp2
NA18946.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp2
NA18955.hp1
NA18956.hp1
NA18956.hp2
NA18957.hp2
NA18962.hp1
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18969.hp2
NA18971.hp2
NA18977.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp2
NA18998.hp1
NA18999.hp1
NA18999.hp2
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19005.hp1
NA19005.hp2
NA19010.hp2
NA19030.hp2
NA19054.hp2
NA19057.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19070.hp1
NA19077.hp1
NA19079.hp2
NA19081.hp1
NA19088.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20752.hp1
NA20752.hp2
NA20805.hp2
 intron_variant MODIFIER c.727+46G>A
c.727+46G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477245
chr21:42477256 C
C
 A
A
 10 a0001c0001t0001g0040
a0001c0001t0001g0245
a0001c0001t0001g0258
others(7): Show 
a0001c0001t0001g0040
a0001c0001t0001g0245
a0001c0001t0001g0258
a0001c0001t0001g0368
a0001c0001t0002g0144
a0001c0001t0002g0186
a0001c0001t0002g0203
a0001c0001t0002g0350
a0001c0001t0003g0019
a0007c0012t0001g0273
 11 HG00609.hp2
HG01167.hp2
HG01169.hp1
others(8): Show 
HG00609.hp2
HG01167.hp2
HG01169.hp1
HG02717.hp2
HG02735.hp2
HG02965.hp2
HG03209.hp1
HG03209.hp2
NA18943.hp2
NA18946.hp2
NA19004.hp1
 intron_variant MODIFIER c.727+35G>T
c.727+35G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477256
chr21:42477256 C
C
 CCCCCTCC
others(663): Show 
CCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAGCCCGGGGATG
CCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCC
CTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCC
ACAGCCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCC
ACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCT
GACCCCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCC
ACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACCCCACAG
CCCGGGGATGCCCCACACCCTCTGTCCCACAGCCCGGGGGTGCCCCACAC
CCTCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACC
CCTCCACTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCC
CACAGCCCGGGGATGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCG
GGGGTGCCCCACACCCTCTGA
 1 a0001c0002t0001g0014
a0001c0002t0001g0014
 2 HG00639.hp2
HG00642.hp1
HG00639.hp2
HG00642.hp1
 intron_variant MODIFIER c.727+34_727+35insTC
others(668): Show 
c.727+34_727+35insTCAGAGGGTGTGGGGCACCCCCGGGCTGTGGG
GTGGAGGGGGCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
GCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGT
GTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCAC
CCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGG
AGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAG
AGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGG
GGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGCTGTGGAGTGGAGGG
GTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCACCCCCGGGCTGTGGGACAGAGGGTGTGGGGCATCCCCGGGC
TGTGGGGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTG
GAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGGTCA
GAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477256
chr21:42477256 C
C
 CCCCCTCC
others(116): Show 
CCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCA
CTCCACAGCCCGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGC
CCGGGGATGCCCCACACCCTCTGA
 1 a0001c0001t0001g0054
a0001c0001t0001g0054
 1 HG00408.hp1
HG00408.hp1
 intron_variant MODIFIER c.727+34_727+35insTC
others(121): Show 
c.727+34_727+35insTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGG
GTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGAGTGGAGGGG
TCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477256
chr21:42477265 C
C
 CCCCACAG
others(25): Show 
CCCCACAGCCCGGGGATGCCCCACACCCTCTGT
 1 a0001c0001t0002g0214
a0001c0001t0002g0214
 1 HG02523.hp1
HG02523.hp1
 intron_variant MODIFIER c.727+25_727+26insAC
others(30): Show 
c.727+25_727+26insACAGAGGGTGTGGGGCATCCCCGGGCTGTGGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477265
chr21:42477266 C
C
 CCCACAGC
others(116): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.727+24_727+25insAG
others(121): Show 
c.727+24_727+25insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477266
chr21:42477266 C
C
 CCCACAGC
others(280): Show 
CCCACAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACTCCACAGCC
CGGGGGTGCCCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGATGC
CCCACACCCTCTGCCCCCTCCACCCCACAGCCCGGGGGTGCCCCACACCC
TCTGCCCCCTCCACCCCACAGCCCGGGGATGCCCCACACCCTCTGACCCC
TCCACTCCACAGCCCGGGGGTGCCCTACACCCTCTGCCCCCTCCACCCCA
CAGCCCGGGGGTGCCCCACACCCTCTGACCCCTCCACT
 1 a0002c0011t0001g0119
a0002c0011t0001g0119
 1 HG01952.hp2
HG01952.hp2
 intron_variant MODIFIER c.727+24_727+25insAG
others(285): Show 
c.727+24_727+25insAGTGGAGGGGTCAGAGGGTGTGGGGCACCCCC
GGGCTGTGGGGTGGAGGGGGCAGAGGGTGTAGGGCACCCCCGGGCTGTGG
AGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGCTGTGGGGTGGAGGG
GGCAGAGGGTGTGGGGCACCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGG
TGTGGGGCATCCCCGGGCTGTGGGGTGGAGGGGGCAGAGGGTGTGGGGCA
CCCCCGGGCTGTGGAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCCGGGC
TGTGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477266
chr21:42477266 C
C
 CCCTCAGC
others(34): Show 
CCCTCAGCCCGGGGATGCCCCACACCCTCTGACCCCTCCACT
 1 a0001c0001t0003g0243
a0001c0001t0003g0243
 1 HG02109.hp1
HG02109.hp1
 intron_variant MODIFIER c.727+24_727+25insAG
others(39): Show 
c.727+24_727+25insAGTGGAGGGGTCAGAGGGTGTGGGGCATCCCC
GGGCTGAGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477266
chr21:42477266 C
C
 T
T
 4 a0001c0001t0001g0040
a0001c0001t0001g0245
a0001c0001t0003g0019
others(1): Show 
a0001c0001t0001g0040
a0001c0001t0001g0245
a0001c0001t0003g0019
a0001c0001t0004g0158
 5 HG00621.hp1
HG01167.hp2
HG01169.hp1
others(2): Show 
HG00621.hp1
HG01167.hp2
HG01169.hp1
HG03209.hp1
HG03209.hp2
 intron_variant MODIFIER c.727+25G>A
c.727+25G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477266
chr21:42477271 AG
AG
 A
A
 7 a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0190
others(4): Show 
a0001c0001t0001g0004
a0001c0001t0001g0149
a0001c0001t0001g0190
a0001c0001t0001g0223
a0001c0001t0001g0305
a0001c0001t0001g0313
a0001c0001t0001g0319
 9 HG01081.hp2
HG01243.hp1
HG01884.hp2
others(6): Show 
HG01081.hp2
HG01243.hp1
HG01884.hp2
HG02280.hp2
HG02723.hp1
HG02723.hp2
HG02818.hp2
HG03471.hp1
HG03540.hp1
 intron_variant MODIFIER c.727+19delC
c.727+19delC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477271
chr21:42477276 G
G
 C
C
 1 a0001c0001t0003g0253
a0001c0001t0003g0253
 1 HG01109.hp2
HG01109.hp2
 intron_variant MODIFIER c.727+15C>G
c.727+15C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477276
chr21:42477280 G
G
 A
A
 2 a0001c0001t0001g0258
a0008c0015t0001g0289
a0001c0001t0001g0258
a0008c0015t0001g0289
 2 HG02965.hp2
NA19075.hp1
HG02965.hp2
NA19075.hp1
 intron_variant MODIFIER c.727+11C>T
c.727+11C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 7/8 chr21 42477280
chr21:42477488 T
T
 A
A
 1 a0002c0003t0001g0356
a0002c0003t0001g0356
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.574-44A>T
c.574-44A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477488
chr21:42477547 G
G
 C
C
 1 a0001c0001t0001g0242
a0001c0001t0001g0242
 1 HG02922.hp1
HG02922.hp1
 intron_variant MODIFIER c.574-103C>G
c.574-103C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477547
chr21:42477588 A
A
 G
G
 1 a0001c0002t0002g0080
a0001c0002t0002g0080
 1 NA18970.hp2
NA18970.hp2
 intron_variant MODIFIER c.574-144T>C
c.574-144T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477588
chr21:42477661 A
A
 G
G
 368 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(365): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0047
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0184
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0010g0160
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0009c0014t0003g0189
a0010c0009t0001g0366
 407 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(404): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02258.hp1
HG02258.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
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.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.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
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574-217T>C
c.574-217T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477661
chr21:42477707 C
C
 T
T
 1 a0001c0001t0001g0259
a0001c0001t0001g0259
 1 NA18612.hp2
NA18612.hp2
 intron_variant MODIFIER c.574-263G>A
c.574-263G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477707
chr21:42477732 G
G
 A
A
 1 a0001c0001t0001g0269
a0001c0001t0001g0269
 1 NA19067.hp2
NA19067.hp2
 intron_variant MODIFIER c.574-288C>T
c.574-288C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477732
chr21:42477737 C
C
 T
T
 14 a0001c0001t0001g0335
a0001c0001t0002g0334
a0001c0001t0002g0339
others(11): Show 
a0001c0001t0001g0335
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0352
a0001c0002t0002g0079
a0001c0002t0004g0118
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
 14 HG00323.hp2
HG00741.hp2
HG01070.hp2
others(11): Show 
HG00323.hp2
HG00741.hp2
HG01070.hp2
HG01934.hp2
HG02027.hp2
HG02074.hp1
HG03688.hp1
NA18954.hp1
NA18956.hp2
NA18960.hp1
NA18964.hp1
NA19004.hp1
NA19011.hp1
NA20905.hp1
 intron_variant MODIFIER c.574-293G>A
c.574-293G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477737
chr21:42477756 A
A
 G
G
 20 a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0156
others(17): Show 
a0001c0001t0001g0033
a0001c0001t0001g0145
a0001c0001t0001g0156
a0001c0001t0001g0226
a0001c0001t0001g0239
a0001c0001t0001g0244
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0305
a0001c0001t0001g0309
a0001c0001t0002g0284
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0003g0237
a0001c0001t0003g0243
a0001c0004t0001g0357
a0004c0008t0001g0272
 21 HG01167.hp1
HG02055.hp1
HG02055.hp2
others(18): Show 
HG01167.hp1
HG02055.hp1
HG02055.hp2
HG02109.hp1
HG02451.hp2
HG02486.hp1
HG02615.hp1
HG02647.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG03195.hp1
HG03195.hp2
HG03471.hp1
HG03486.hp2
HG03540.hp2
HG06807.hp2
NA18906.hp1
NA19043.hp1
NA19240.hp2
 intron_variant MODIFIER c.574-312T>C
c.574-312T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477756
chr21:42477814 T
T
 C
C
 1 a0001c0001t0001g0309
a0001c0001t0001g0309
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.574-370A>G
c.574-370A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477814
chr21:42477832 C
C
 T
T
 1 a0001c0001t0001g0190
a0001c0001t0001g0190
 1 HG02723.hp1
HG02723.hp1
 intron_variant MODIFIER c.574-388G>A
c.574-388G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477832
chr21:42477849 G
G
 A
A
 2 a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0001t0001g0036
a0001c0001t0001g0044
 2 HG02738.hp2
HG03017.hp1
HG02738.hp2
HG03017.hp1
 intron_variant MODIFIER c.574-405C>T
c.574-405C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477849
chr21:42477889 C
C
 A
A
 4 a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
others(1): Show 
a0001c0001t0001g0024
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0003g0253
 5 HG01109.hp2
HG02559.hp2
HG02976.hp1
others(2): Show 
HG01109.hp2
HG02559.hp2
HG02976.hp1
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.574-445G>T
c.574-445G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42477889
chr21:42478000 G
G
 A
A
 6 a0001c0001t0002g0334
a0001c0001t0002g0348
a0001c0001t0002g0349
others(3): Show 
a0001c0001t0002g0334
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0352
a0001c0001t0002g0355
 6 HG02027.hp2
NA18954.hp1
NA18960.hp1
others(3): Show 
HG02027.hp2
NA18954.hp1
NA18960.hp1
NA19004.hp1
NA19011.hp1
NA19072.hp1
 intron_variant MODIFIER c.574-556C>T
c.574-556C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478000
chr21:42478002 A
A
 G
G
 40 a0001c0001t0001g0056
a0001c0001t0001g0321
a0001c0001t0001g0329
others(37): Show 
a0001c0001t0001g0056
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0002g0032
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0003g0328
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0008g0358
a0001c0002t0001g0014
a0001c0017t0001g0354
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
 42 HG00140.hp1
HG00323.hp2
HG00639.hp2
others(39): Show 
HG00140.hp1
HG00323.hp2
HG00639.hp2
HG00642.hp1
HG01070.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG02027.hp2
HG02074.hp1
HG03471.hp2
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18522.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18955.hp1
NA18956.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19070.hp1
NA19072.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.574-558T>C
c.574-558T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478002
chr21:42478061 G
G
 A
A
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.574-617C>T
c.574-617C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478061
chr21:42478085 A
A
 G
G
 6 a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
others(3): Show 
a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0002t0002g0117
 7 HG00639.hp1
HG00735.hp2
HG01496.hp2
others(4): Show 
HG00639.hp1
HG00735.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
HG03654.hp2
 intron_variant MODIFIER c.574-641T>C
c.574-641T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478085
chr21:42478152 A
A
 G
G
 1 a0001c0001t0001g0255
a0001c0001t0001g0255
 1 HG02647.hp1
HG02647.hp1
 intron_variant MODIFIER c.574-708T>C
c.574-708T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478152
chr21:42478225 A
A
 G
G
 1 a0001c0002t0002g0078
a0001c0002t0002g0078
 1 NA18961.hp1
NA18961.hp1
 intron_variant MODIFIER c.574-781T>C
c.574-781T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478225
chr21:42478255 C
C
 T
T
 1 a0001c0001t0003g0064
a0001c0001t0003g0064
 1 NA19088.hp1
NA19088.hp1
 intron_variant MODIFIER c.574-811G>A
c.574-811G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478255
chr21:42478256 G
G
 A
A
 1 a0001c0001t0001g0060
a0001c0001t0001g0060
 1 HG02056.hp2
HG02056.hp2
 intron_variant MODIFIER c.574-812C>T
c.574-812C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478256
chr21:42478383 G
G
 A
A
 9 a0001c0001t0001g0223
a0001c0001t0003g0019
a0001c0001t0003g0221
others(6): Show 
a0001c0001t0001g0223
a0001c0001t0003g0019
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0237
a0001c0001t0003g0361
 10 HG01081.hp2
HG01167.hp2
HG01169.hp1
others(7): Show 
HG01081.hp2
HG01167.hp2
HG01169.hp1
HG01884.hp1
HG02145.hp2
HG02897.hp1
HG02965.hp1
HG03139.hp2
NA18906.hp1
NA19030.hp2
 intron_variant MODIFIER c.574-939C>T
c.574-939C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478383
chr21:42478497 C
C
 T
T
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.574-1053G>A
c.574-1053G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478497
chr21:42478654 C
C
 G
G
 2 a0001c0001t0001g0305
a0001c0001t0008g0306
a0001c0001t0001g0305
a0001c0001t0008g0306
 2 HG01891.hp1
HG03471.hp1
HG01891.hp1
HG03471.hp1
 intron_variant MODIFIER c.574-1210G>C
c.574-1210G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478654
chr21:42478655 G
G
 A
A
 18 a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0101
others(15): Show 
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0133
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
 18 HG01928.hp1
HG01943.hp2
HG01993.hp2
others(15): Show 
HG01928.hp1
HG01943.hp2
HG01993.hp2
HG02080.hp1
HG02132.hp1
HG02135.hp2
NA18945.hp2
NA18965.hp1
NA18977.hp2
NA18980.hp1
NA18990.hp1
NA18997.hp2
NA18999.hp1
NA19005.hp1
NA19010.hp2
NA19060.hp1
NA19062.hp2
NA19063.hp1
 intron_variant MODIFIER c.574-1211C>T
c.574-1211C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42478655
chr21:42479044 A
A
 G
G
 264 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(261): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0042
a0001c0001t0001g0056
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0156
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0061
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0002
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0303
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 294 HG00099.hp2
HG00140.hp1
HG00140.hp2
others(291): Show 
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
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
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574-1600T>C
c.574-1600T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479044
chr21:42479074 T
T
 C
C
 1 a0002c0003t0001g0314
a0002c0003t0001g0314
 1 HG00099.hp1
HG00099.hp1
 intron_variant MODIFIER c.574-1630A>G
c.574-1630A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479074
chr21:42479125 C
C
 T
T
 1 a0001c0002t0004g0008
a0001c0002t0004g0008
 2 HG03490.hp2
HG03492.hp1
HG03490.hp2
HG03492.hp1
 intron_variant MODIFIER c.574-1681G>A
c.574-1681G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479125
chr21:42479126 G
G
 A
A
 3 a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
 3 NA18940.hp1
NA18955.hp2
NA19000.hp1
NA18940.hp1
NA18955.hp2
NA19000.hp1
 intron_variant MODIFIER c.574-1682C>T
c.574-1682C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479126
chr21:42479189 C
C
 T
T
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.574-1745G>A
c.574-1745G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479189
chr21:42479256 A
A
 G
G
 65 a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0021
others(62): Show 
a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0364
a0001c0001t0002g0230
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0003g0002
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0004g0294
a0001c0001t0006g0157
a0002c0003t0001g0303
a0002c0003t0003g0262
a0004c0008t0001g0272
a0007c0012t0001g0273
a0008c0015t0001g0289
 77 HG00140.hp2
HG00597.hp2
HG00609.hp1
others(74): Show 
HG00140.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp2
HG01069.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG01981.hp2
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02148.hp1
HG02165.hp2
HG02293.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG03239.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18747.hp1
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18961.hp2
NA18964.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18994.hp1
NA18997.hp1
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19054.hp2
NA19057.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.574-1812T>C
c.574-1812T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479256
chr21:42479291 C
C
 A
A
 1 a0001c0002t0001g0109
a0001c0002t0001g0109
 1 HG01975.hp1
HG01975.hp1
 intron_variant MODIFIER c.574-1847G>T
c.574-1847G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479291
chr21:42479617 G
G
 A
A
 1 a0001c0001t0001g0258
a0001c0001t0001g0258
 1 HG02965.hp2
HG02965.hp2
 intron_variant MODIFIER c.574-2173C>T
c.574-2173C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479617
chr21:42479622 C
C
 T
T
 7 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0250
others(4): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0003g0253
 9 HG01109.hp2
HG02559.hp2
HG02572.hp1
others(6): Show 
HG01109.hp2
HG02559.hp2
HG02572.hp1
HG02622.hp1
HG02809.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03579.hp1
 intron_variant MODIFIER c.574-2178G>A
c.574-2178G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479622
chr21:42479726 T
T
 TAC
TAC
 129 a0001c0001t0001g0156
a0001c0001t0001g0233
a0001c0001t0001g0239
others(126): Show 
a0001c0001t0001g0156
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0257
a0001c0001t0001g0290
a0001c0001t0001g0301
a0001c0001t0001g0329
a0001c0001t0002g0032
a0001c0001t0002g0061
a0001c0001t0002g0246
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0055
a0001c0001t0003g0204
a0001c0001t0003g0224
a0001c0001t0003g0328
a0001c0001t0004g0188
a0001c0001t0004g0205
a0001c0001t0004g0344
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0011t0001g0119
a0003c0005t0002g0085
 138 HG00099.hp2
HG00140.hp1
HG00280.hp1
others(135): Show 
HG00099.hp2
HG00140.hp1
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp2
HG01106.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01192.hp1
HG01255.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01361.hp2
HG01433.hp1
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01928.hp1
HG01928.hp2
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01978.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02293.hp2
HG02451.hp2
HG02572.hp2
HG02615.hp2
HG02622.hp2
HG02896.hp2
HG03041.hp1
HG03098.hp2
HG03195.hp2
HG03453.hp1
HG03486.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
HG04204.hp2
HG04228.hp2
NA18747.hp2
NA18944.hp1
NA18945.hp2
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19055.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19075.hp2
NA19081.hp1
NA19089.hp1
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20905.hp1
 intron_variant MODIFIER c.574-2284_574-2283d
others(4): Show 
c.574-2284_574-2283dupGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479726
chr21:42479726 T
T
 TACAC
TACAC
 23 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0056
others(20): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0056
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0321
a0001c0001t0001g0335
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0002t0001g0012
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0002g0038
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0004t0001g0308
a0001c0004t0003g0360
a0003c0005t0002g0129
 26 HG00323.hp2
HG01099.hp1
HG01106.hp1
others(23): Show 
HG00323.hp2
HG01099.hp1
HG01106.hp1
HG01109.hp2
HG01516.hp1
HG01975.hp2
HG01981.hp1
HG02109.hp1
HG02145.hp1
HG02258.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02809.hp1
HG02818.hp1
HG02922.hp1
HG02976.hp1
HG03098.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03579.hp1
HG03927.hp1
NA18943.hp1
NA18955.hp1
NA19059.hp1
 intron_variant MODIFIER c.574-2286_574-2283d
others(6): Show 
c.574-2286_574-2283dupGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479726
chr21:42479726 T
T
 TACACAC
TACACAC
 7 a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0002t0001g0114
others(4): Show 
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0002t0001g0114
a0001c0002t0002g0115
a0002c0003t0001g0337
a0004c0010t0001g0066
a0005c0007t0001g0336
 7 HG01081.hp1
HG01257.hp2
HG01361.hp1
others(4): Show 
HG01081.hp1
HG01257.hp2
HG01361.hp1
HG02622.hp1
HG02647.hp1
NA19043.hp2
NA20129.hp2
 intron_variant MODIFIER c.574-2288_574-2283d
others(8): Show 
c.574-2288_574-2283dupGTGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479726
chr21:42479726 TAC
TAC
 T
T
 17 a0001c0001t0001g0004
a0001c0001t0001g0207
a0001c0001t0001g0227
others(14): Show 
a0001c0001t0001g0004
a0001c0001t0001g0207
a0001c0001t0001g0227
a0001c0001t0001g0266
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0003g0002
a0001c0001t0003g0064
a0001c0001t0003g0236
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0362
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0002t0002g0116
a0009c0014t0003g0189
 22 HG00621.hp2
HG00738.hp2
HG01109.hp1
others(19): Show 
HG00621.hp2
HG00738.hp2
HG01109.hp1
HG01243.hp1
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02280.hp2
HG02717.hp1
HG02723.hp2
HG03041.hp2
HG03540.hp1
NA18612.hp1
NA18906.hp2
NA18939.hp1
NA18966.hp2
NA18967.hp1
NA18998.hp1
NA19057.hp1
NA19077.hp1
NA19088.hp1
 intron_variant MODIFIER c.574-2284_574-2283d
others(4): Show 
c.574-2284_574-2283delGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479726
chr21:42479726 TACAC
TACAC
 T
T
 9 a0001c0001t0001g0305
a0001c0001t0001g0317
a0001c0001t0001g0363
others(6): Show 
a0001c0001t0001g0305
a0001c0001t0001g0317
a0001c0001t0001g0363
a0001c0001t0002g0297
a0001c0001t0002g0316
a0001c0001t0002g0365
a0001c0001t0005g0320
a0001c0001t0008g0306
a0002c0003t0001g0314
 9 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(6): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01496.hp2
HG01891.hp1
HG02630.hp1
HG03471.hp1
HG06807.hp2
NA18946.hp1
 intron_variant MODIFIER c.574-2286_574-2283d
others(6): Show 
c.574-2286_574-2283delGTGT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479726
chr21:42479777 C
C
 A
A
 6 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0318
others(3): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0003g0362
 8 HG01243.hp1
HG01884.hp2
HG02280.hp2
others(5): Show 
HG01243.hp1
HG01884.hp2
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.574-2333G>T
c.574-2333G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479777
chr21:42479800 A
A
 G
G
 21 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0156
others(18): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0156
a0001c0001t0001g0226
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0002g0246
a0001c0001t0003g0243
a0001c0001t0003g0253
 23 HG01109.hp2
HG01167.hp1
HG02109.hp1
others(20): Show 
HG01109.hp2
HG01167.hp1
HG02109.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02809.hp1
HG02886.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03486.hp2
HG03579.hp1
NA19043.hp1
NA20300.hp2
 intron_variant MODIFIER c.574-2356T>C
c.574-2356T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42479800
chr21:42480368 G
G
 A
A
 15 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
others(12): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0316
a0001c0001t0003g0362
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0002c0003t0001g0314
 18 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(15): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01243.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02055.hp1
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp1
 intron_variant MODIFIER c.573+2269C>T
c.573+2269C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480368
chr21:42480379 C
C
 T
T
 1 a0001c0001t0001g0321
a0001c0001t0001g0321
 1 HG03927.hp1
HG03927.hp1
 intron_variant MODIFIER c.573+2258G>A
c.573+2258G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480379
chr21:42480470 G
G
 A
A
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.573+2167C>T
c.573+2167C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480470
chr21:42480491 T
T
 C
C
 12 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0316
a0001c0001t0003g0362
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 15 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(12): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01243.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.573+2146A>G
c.573+2146A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480491
chr21:42480532 C
C
 T
T
 1 a0002c0003t0001g0046
a0002c0003t0001g0046
 1 HG03017.hp2
HG03017.hp2
 intron_variant MODIFIER c.573+2105G>A
c.573+2105G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480532
chr21:42480582 T
T
 G
G
 189 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0023
others(186): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0226
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0002g0061
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0003g0002
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0008t0001g0272
a0007c0012t0001g0273
a0008c0015t0001g0289
 213 HG00099.hp1
HG00099.hp2
HG00140.hp2
others(210): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01175.hp1
HG01192.hp1
HG01243.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01496.hp2
HG01515.hp1
HG01515.hp2
HG01516.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02683.hp1
HG02717.hp1
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02976.hp1
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03579.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18948.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18961.hp1
NA18961.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp2
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19030.hp1
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+2055A>C
c.573+2055A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480582
chr21:42480596 C
C
 T
T
 2 a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0151
a0001c0001t0002g0152
 2 HG02602.hp1
HG02683.hp2
HG02602.hp1
HG02683.hp2
 intron_variant MODIFIER c.573+2041G>A
c.573+2041G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480596
chr21:42480640 C
C
 CA
CA
 134 a0001c0001t0001g0020
a0001c0001t0001g0045
a0001c0001t0001g0057
others(131): Show 
a0001c0001t0001g0020
a0001c0001t0001g0045
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0207
a0001c0001t0001g0225
a0001c0001t0001g0229
a0001c0001t0001g0258
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0309
a0001c0001t0001g0321
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0061
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0297
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0353
a0001c0001t0003g0148
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0204
a0001c0001t0003g0224
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0361
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0315
a0001c0002t0001g0012
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0003g0067
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0004t0001g0357
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0003c0005t0002g0085
a0003c0013t0002g0191
a0004c0008t0001g0298
a0004c0010t0001g0066
a0006c0018t0001g0369
a0009c0014t0003g0189
 143 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(140): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00408.hp2
HG00423.hp2
HG00438.hp1
HG00597.hp1
HG00621.hp2
HG00735.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01099.hp1
HG01106.hp2
HG01123.hp1
HG01123.hp2
HG01175.hp2
HG01192.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.hp1
HG01261.hp2
HG01358.hp1
HG01361.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01934.hp1
HG01943.hp1
HG01943.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp2
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02040.hp2
HG02055.hp1
HG02056.hp2
HG02071.hp2
HG02074.hp1
HG02080.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp1
HG02523.hp2
HG02559.hp1
HG02615.hp2
HG02630.hp2
HG02717.hp2
HG02723.hp1
HG02809.hp2
HG02818.hp2
HG02886.hp2
HG02965.hp2
HG02976.hp2
HG03041.hp1
HG03453.hp2
HG03486.hp1
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp1
HG03688.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03927.hp1
HG03942.hp2
HG04115.hp1
HG06807.hp2
NA18612.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18941.hp1
NA18943.hp1
NA18943.hp2
NA18944.hp2
NA18945.hp2
NA18953.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18964.hp1
NA18965.hp1
NA18967.hp2
NA18968.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp1
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19003.hp1
NA19004.hp1
NA19004.hp2
NA19010.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp2
NA19054.hp1
NA19055.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19062.hp1
NA19062.hp2
NA19075.hp2
NA19081.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.573+1996dupT
c.573+1996dupT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480640
chr21:42480640 C
C
 CAA
CAA
 61 a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0062
others(58): Show 
a0001c0001t0001g0028
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0231
a0001c0001t0001g0259
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0305
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0002g0143
a0001c0001t0002g0292
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0355
a0001c0001t0003g0002
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0261
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0004g0294
a0001c0001t0008g0306
a0001c0002t0001g0039
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0002g0076
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0138
a0001c0002t0002g0211
a0001c0002t0003g0126
a0001c0002t0004g0118
a0001c0002t0004g0141
a0002c0003t0001g0303
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0129
a0004c0008t0001g0272
a0007c0012t0001g0273
 66 HG00140.hp2
HG00597.hp2
HG00738.hp1
others(63): Show 
HG00140.hp2
HG00597.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01074.hp2
HG01106.hp1
HG01109.hp1
HG01358.hp2
HG01891.hp1
HG01928.hp2
HG01952.hp1
HG01952.hp2
HG01978.hp1
HG01981.hp1
HG02027.hp1
HG02027.hp2
HG02055.hp2
HG02071.hp1
HG02083.hp1
HG02145.hp1
HG02165.hp2
HG02293.hp1
HG02572.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG03471.hp1
HG03490.hp1
HG03654.hp2
HG03669.hp2
HG03834.hp1
HG03942.hp1
HG04199.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18942.hp2
NA18948.hp2
NA18954.hp2
NA18955.hp2
NA18965.hp2
NA18966.hp2
NA18968.hp1
NA18969.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp1
NA19003.hp2
NA19005.hp1
NA19010.hp2
NA19057.hp1
NA19067.hp1
NA19072.hp1
NA19074.hp2
NA19077.hp1
NA19087.hp2
NA20805.hp1
 intron_variant MODIFIER c.573+1995_573+1996d
others(4): Show 
c.573+1995_573+1996dupTT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480640
chr21:42480640 C
C
 CAAA
CAAA
 20 a0001c0001t0001g0003
a0001c0001t0001g0029
a0001c0001t0001g0063
others(17): Show 
a0001c0001t0001g0003
a0001c0001t0001g0029
a0001c0001t0001g0063
a0001c0001t0001g0232
a0001c0001t0001g0260
a0001c0001t0001g0266
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0307
a0001c0001t0001g0312
a0001c0001t0002g0284
a0001c0001t0003g0025
a0001c0001t0003g0220
a0001c0001t0003g0267
a0001c0001t0003g0295
a0001c0001t0003g0302
a0008c0015t0001g0289
 24 HG00609.hp1
HG00642.hp2
HG01175.hp1
others(21): Show 
HG00609.hp1
HG00642.hp2
HG01175.hp1
HG02135.hp1
HG02148.hp1
HG03927.hp2
HG04115.hp2
HG04204.hp1
NA18941.hp2
NA18944.hp1
NA18952.hp1
NA18961.hp2
NA18967.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19054.hp2
NA19063.hp2
NA19075.hp1
NA19080.hp2
NA19085.hp2
NA19240.hp1
NA19240.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+1994_573+1996d
others(5): Show 
c.573+1994_573+1996dupTTT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480640
chr21:42480640 CA
CA
 C
C
 23 a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0033
others(20): Show 
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0033
a0001c0001t0001g0040
a0001c0001t0001g0233
a0001c0001t0001g0244
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0363
a0001c0001t0003g0253
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0008g0358
a0001c0004t0001g0308
 27 HG01109.hp2
HG01167.hp1
HG01168.hp2
others(24): Show 
HG01109.hp2
HG01167.hp1
HG01168.hp2
HG01243.hp1
HG01884.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03195.hp2
HG03209.hp2
HG03540.hp1
NA18522.hp2
NA19043.hp1
 intron_variant MODIFIER c.573+1996delT
c.573+1996delT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480640
chr21:42480727 G
G
 A
A
 2 a0001c0002t0002g0013
a0001c0002t0002g0132
a0001c0002t0002g0013
a0001c0002t0002g0132
 3 HG00323.hp1
HG01069.hp2
HG01071.hp2
HG00323.hp1
HG01069.hp2
HG01071.hp2
 intron_variant MODIFIER c.573+1910C>T
c.573+1910C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480727
chr21:42480735 G
G
 A
A
 1 a0004c0010t0001g0066
a0004c0010t0001g0066
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.573+1902C>T
c.573+1902C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480735
chr21:42480955 G
G
 T
T
 1 a0001c0001t0001g0045
a0001c0001t0001g0045
 1 NA18970.hp1
NA18970.hp1
 intron_variant MODIFIER c.573+1682C>A
c.573+1682C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480955
chr21:42480990 A
A
 G
G
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.573+1647T>C
c.573+1647T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42480990
chr21:42481247 C
C
 T
T
 6 a0001c0001t0001g0021
a0001c0001t0001g0225
a0001c0001t0001g0227
others(3): Show 
a0001c0001t0001g0021
a0001c0001t0001g0225
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0364
 7 HG00738.hp2
HG01192.hp2
HG01243.hp2
others(4): Show 
HG00738.hp2
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG01981.hp2
HG03239.hp2
NA20905.hp2
 intron_variant MODIFIER c.573+1390G>A
c.573+1390G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481247
chr21:42481332 C
C
 T
T
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.573+1305G>A
c.573+1305G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481332
chr21:42481360 A
A
 G
G
 1 a0001c0001t0001g0154
a0001c0001t0001g0154
 1 NA18966.hp1
NA18966.hp1
 intron_variant MODIFIER c.573+1277T>C
c.573+1277T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481360
chr21:42481365 T
T
 G
G
 1 a0001c0001t0001g0206
a0001c0001t0001g0206
 1 NA18952.hp2
NA18952.hp2
 intron_variant MODIFIER c.573+1272A>C
c.573+1272A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481365
chr21:42481371 C
C
 G
G
 12 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
others(9): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0316
a0001c0001t0003g0362
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 15 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(12): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01243.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.573+1266G>C
c.573+1266G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481371
chr21:42481488 G
G
 A
A
 8 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0300
others(5): Show 
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0004c0008t0001g0298
 8 HG02451.hp2
HG02615.hp2
HG02630.hp2
others(5): Show 
HG02451.hp2
HG02615.hp2
HG02630.hp2
HG02976.hp2
HG03453.hp1
HG03540.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.573+1149C>T
c.573+1149C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481488
chr21:42481547 T
T
 C
C
 1 a0001c0002t0002g0133
a0001c0002t0002g0133
 1 NA18977.hp2
NA18977.hp2
 intron_variant MODIFIER c.573+1090A>G
c.573+1090A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481547
chr21:42481667 T
T
 C
C
 90 a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
others(87): Show 
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
 98 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(95): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.573+970A>G
c.573+970A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481667
chr21:42481683 AAAAGGAT
others(31): Show 
AAAAGGATCAAAACCAGTACCAGGGTCAGGAAATGTTGC
 A
A
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.573+916_573+953del
others(38): Show 
c.573+916_573+953delGCAACATTTCCTGACCCTGGTACTGGTTTT
GATCCTTT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481683
chr21:42481776 G
G
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.573+861C>A
c.573+861C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481776
chr21:42481848 T
T
 C
C
 56 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0028
others(53): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0042
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0003g0002
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0004g0294
a0002c0003t0001g0303
a0002c0003t0003g0262
a0004c0008t0001g0272
a0007c0012t0001g0273
a0008c0015t0001g0289
 66 HG00140.hp2
HG00597.hp2
HG00609.hp1
others(63): Show 
HG00140.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG01069.hp1
HG01175.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02148.hp1
HG02165.hp2
HG02293.hp1
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18948.hp2
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18961.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19054.hp2
NA19057.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.573+789A>G
c.573+789A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42481848
chr21:42482081 G
G
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.573+556C>A
c.573+556C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482081
chr21:42482145 G
G
 A
A
 1 a0001c0001t0002g0353
a0001c0001t0002g0353
 1 NA18959.hp2
NA18959.hp2
 intron_variant MODIFIER c.573+492C>T
c.573+492C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482145
chr21:42482146 T
T
 C
C
 1 a0001c0001t0003g0238
a0001c0001t0003g0238
 1 HG02809.hp2
HG02809.hp2
 intron_variant MODIFIER c.573+491A>G
c.573+491A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482146
chr21:42482172 C
C
 A
A
 8 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0300
others(5): Show 
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0004c0008t0001g0298
 8 HG02451.hp2
HG02615.hp2
HG02630.hp2
others(5): Show 
HG02451.hp2
HG02615.hp2
HG02630.hp2
HG02976.hp2
HG03453.hp1
HG03540.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.573+465G>T
c.573+465G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482172
chr21:42482229 A
A
 T
T
 1 a0001c0001t0001g0020
a0001c0001t0001g0020
 2 NA18997.hp1
NA19081.hp2
NA18997.hp1
NA19081.hp2
 intron_variant MODIFIER c.573+408T>A
c.573+408T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482229
chr21:42482373 G
G
 A
A
 2 a0001c0002t0002g0134
a0001c0002t0003g0067
a0001c0002t0002g0134
a0001c0002t0003g0067
 2 HG03704.hp1
HG04115.hp1
HG03704.hp1
HG04115.hp1
 intron_variant MODIFIER c.573+264C>T
c.573+264C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482373
chr21:42482374 T
T
 A
A
 2 a0001c0001t0001g0207
a0001c0001t0003g0064
a0001c0001t0001g0207
a0001c0001t0003g0064
 2 NA18612.hp1
NA19088.hp1
NA18612.hp1
NA19088.hp1
 intron_variant MODIFIER c.573+263A>T
c.573+263A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482374
chr21:42482514 T
T
 C
C
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.573+123A>G
c.573+123A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482514
chr21:42482524 C
C
 T
T
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.573+113G>A
c.573+113G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482524
chr21:42482571 G
G
 C
C
 1 a0001c0001t0003g0291
a0001c0001t0003g0291
 1 NA18954.hp2
NA18954.hp2
 intron_variant MODIFIER c.573+66C>G
c.573+66C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482571
chr21:42482605 T
T
 A
A
 1 a0001c0001t0007g0208
a0001c0001t0007g0208
 1 HG03669.hp1
HG03669.hp1
 intron_variant MODIFIER c.573+32A>T
c.573+32A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 6/8 chr21 42482605
chr21:42483237 A
A
 AT
AT
 24 a0001c0001t0001g0004
a0001c0001t0001g0258
a0001c0001t0001g0260
others(21): Show 
a0001c0001t0001g0004
a0001c0001t0001g0258
a0001c0001t0001g0260
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0304
a0001c0001t0003g0267
a0001c0001t0003g0362
a0001c0001t0008g0306
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0006c0018t0001g0369
a0010c0009t0001g0366
 26 HG01243.hp1
HG01884.hp2
HG01891.hp1
others(23): Show 
HG01243.hp1
HG01884.hp2
HG01891.hp1
HG02055.hp1
HG02109.hp2
HG02280.hp2
HG02630.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02818.hp1
HG02886.hp2
HG02965.hp2
HG03041.hp2
HG03225.hp2
HG03471.hp1
HG03540.hp1
HG03927.hp1
NA18940.hp1
NA18955.hp2
NA18967.hp1
NA19000.hp1
NA19000.hp2
NA19030.hp1
NA19240.hp1
 intron_variant MODIFIER c.502-530dupA
c.502-530dupA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483237
chr21:42483237 A
A
 ATT
ATT
 6 a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
others(3): Show 
a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 7 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(4): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.502-531_502-530dup
others(2): Show 
c.502-531_502-530dupAA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483237
chr21:42483237 AT
AT
 A
A
 6 a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0076
others(3): Show 
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0076
a0001c0002t0002g0136
a0004c0010t0001g0066
a0005c0007t0001g0209
 6 HG00738.hp1
HG01928.hp1
HG01943.hp2
others(3): Show 
HG00738.hp1
HG01928.hp1
HG01943.hp2
HG01993.hp2
NA19043.hp2
NA20805.hp2
 intron_variant MODIFIER c.502-530delA
c.502-530delA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483237
chr21:42483370 G
G
 A
A
 4 a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
others(1): Show 
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 5 HG00099.hp1
HG00639.hp1
HG01515.hp2
others(2): Show 
HG00099.hp1
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.502-662C>T
c.502-662C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483370
chr21:42483461 TG
TG
 T
T
 92 a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0002t0001g0012
others(89): Show 
a0001c0001t0001g0036
a0001c0001t0001g0044
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
 100 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(97): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG02738.hp2
HG03017.hp1
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.502-754delC
c.502-754delC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483461
chr21:42483470 A
A
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.502-762T>A
c.502-762T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483470
chr21:42483479 A
A
 G
G
 7 a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0002g0007
others(4): Show 
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0002g0007
a0001c0002t0002g0076
a0001c0002t0004g0072
a0001c0006t0001g0074
a0001c0006t0001g0075
 8 HG00099.hp2
HG00280.hp1
HG00738.hp1
others(5): Show 
HG00099.hp2
HG00280.hp1
HG00738.hp1
HG01074.hp1
HG01106.hp2
HG01358.hp1
HG01515.hp1
HG03710.hp1
 intron_variant MODIFIER c.502-771T>C
c.502-771T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483479
chr21:42483573 T
T
 C
C
 2 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0239
a0001c0001t0001g0240
 2 HG03453.hp1
HG03540.hp2
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.502-865A>G
c.502-865A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483573
chr21:42483619 A
A
 C
C
 1 a0002c0003t0001g0153
a0002c0003t0001g0153
 1 HG04228.hp1
HG04228.hp1
 intron_variant MODIFIER c.502-911T>G
c.502-911T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483619
chr21:42483849 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.502-1141G>A
c.502-1141G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483849
chr21:42483873 C
C
 T
T
 15 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
others(12): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0363
a0001c0001t0002g0316
a0001c0001t0003g0362
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0002c0003t0001g0314
 18 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(15): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01243.hp1
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01884.hp2
HG01978.hp2
HG02055.hp1
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG02818.hp1
HG03041.hp2
HG03225.hp2
HG03540.hp1
 intron_variant MODIFIER c.502-1165G>A
c.502-1165G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483873
chr21:42483922 C
C
 T
T
 1 a0001c0001t0001g0309
a0001c0001t0001g0309
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.502-1214G>A
c.502-1214G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483922
chr21:42483955 G
G
 A
A
 2 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0239
a0001c0001t0001g0240
 2 HG03453.hp1
HG03540.hp2
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.502-1247C>T
c.502-1247C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483955
chr21:42483989 G
G
 GGT
GGT
 94 a0001c0001t0001g0257
a0001c0001t0001g0263
a0001c0001t0002g0246
others(91): Show 
a0001c0001t0001g0257
a0001c0001t0001g0263
a0001c0001t0002g0246
a0001c0002t0001g0012
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0010t0001g0066
 102 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(99): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG02683.hp1
HG03041.hp1
HG03098.hp2
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20905.hp1
 intron_variant MODIFIER c.502-1283_502-1282d
others(4): Show 
c.502-1283_502-1282dupAC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483989
chr21:42483989 GGT
GGT
 G
G
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.502-1283_502-1282d
others(4): Show 
c.502-1283_502-1282delAC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42483989
chr21:42484048 T
T
 C
C
 2 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0040
a0001c0001t0001g0041
 2 HG02970.hp2
HG03209.hp2
HG02970.hp2
HG03209.hp2
 intron_variant MODIFIER c.502-1340A>G
c.502-1340A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42484048
chr21:42484156 G
G
 A
A
 1 a0001c0002t0002g0138
a0001c0002t0002g0138
 1 NA19005.hp1
NA19005.hp1
 intron_variant MODIFIER c.502-1448C>T
c.502-1448C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42484156
chr21:42484190 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.501+1479G>A
c.501+1479G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42484190
chr21:42484701 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.501+968G>A
c.501+968G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42484701
chr21:42484725 A
A
 T
T
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.501+944T>A
c.501+944T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42484725
chr21:42485180 C
C
 G
G
 3 a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
 3 NA18999.hp1
NA19062.hp2
NA19063.hp1
NA18999.hp1
NA19062.hp2
NA19063.hp1
 intron_variant MODIFIER c.501+489G>C
c.501+489G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485180
chr21:42485217 C
C
 T
T
 233 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0023
others(230): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0226
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0032
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0003g0002
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 259 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(256): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01070.hp2
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01081.hp1
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01243.hp1
HG01255.hp2
HG01257.hp2
HG01258.hp1
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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02071.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.501+452G>A
c.501+452G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485217
chr21:42485302 C
C
 T
T
 1 a0002c0003t0001g0043
a0002c0003t0001g0043
 1 HG03239.hp1
HG03239.hp1
 intron_variant MODIFIER c.501+367G>A
c.501+367G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485302
chr21:42485315 G
G
 A
A
 4 a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
a0001c0001t0008g0358
 5 HG02896.hp1
HG02897.hp2
HG03471.hp2
others(2): Show 
HG02896.hp1
HG02897.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.501+354C>T
c.501+354C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485315
chr21:42485471 T
T
 C
C
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.501+198A>G
c.501+198A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485471
chr21:42485655 T
T
 C
C
 1 a0001c0001t0001g0226
a0001c0001t0001g0226
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.501+14A>G
c.501+14A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 5/8 chr21 42485655
chr21:42485829 T
T
 C
C
 1 a0004c0010t0001g0066
a0004c0010t0001g0066
 1 NA19043.hp2
NA19043.hp2
 intron_variant MODIFIER c.366-25A>G
c.366-25A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42485829
chr21:42485899 G
G
 T
T
 1 a0001c0001t0001g0233
a0001c0001t0001g0233
 1 HG02622.hp2
HG02622.hp2
 intron_variant MODIFIER c.366-95C>A
c.366-95C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42485899
chr21:42486080 C
C
 T
T
 1 a0001c0001t0007g0210
a0001c0001t0007g0210
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.366-276G>A
c.366-276G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42486080
chr21:42486241 G
G
 C
C
 92 a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
others(89): Show 
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0010t0001g0066
 101 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(98): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.365+130C>G
c.365+130C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42486241
chr21:42486287 T
T
 G
G
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.365+84A>C
c.365+84A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42486287
chr21:42486315 C
C
 T
T
 2 a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0151
a0001c0001t0002g0152
 2 HG02602.hp1
HG02683.hp2
HG02602.hp1
HG02683.hp2
 intron_variant MODIFIER c.365+56G>A
c.365+56G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 4/8 chr21 42486315
chr21:42486502 G
G
 A
A
 1 a0001c0001t0007g0210
a0001c0001t0007g0210
 1 HG02602.hp2
HG02602.hp2
 intron_variant MODIFIER c.275-41C>T
c.275-41C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486502
chr21:42486612 C
C
 A
A
 2 a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0001g0317
a0001c0001t0002g0316
 2 HG00735.hp2
HG01496.hp2
HG00735.hp2
HG01496.hp2
 intron_variant MODIFIER c.275-151G>T
c.275-151G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486612
chr21:42486647 G
G
 C
C
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.275-186C>G
c.275-186C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486647
chr21:42486653 A
A
 G
G
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-192T>C
c.275-192T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486653
chr21:42486687 C
C
 T
T
 4 a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
others(1): Show 
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 5 HG00099.hp1
HG00639.hp1
HG01515.hp2
others(2): Show 
HG00099.hp1
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.275-226G>A
c.275-226G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486687
chr21:42486822 T
T
 G
G
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-361A>C
c.275-361A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486822
chr21:42486847 C
C
 T
T
 3 a0001c0001t0002g0296
a0001c0001t0002g0297
a0004c0008t0001g0298
a0001c0001t0002g0296
a0001c0001t0002g0297
a0004c0008t0001g0298
 3 HG02976.hp2
HG06807.hp2
NA20129.hp1
HG02976.hp2
HG06807.hp2
NA20129.hp1
 intron_variant MODIFIER c.275-386G>A
c.275-386G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42486847
chr21:42487104 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-643G>A
c.275-643G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487104
chr21:42487142 G
G
 A
A
 90 a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
others(87): Show 
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
 99 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(96): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.275-681C>T
c.275-681C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487142
chr21:42487202 A
A
 T
T
 1 a0001c0004t0001g0357
a0001c0004t0001g0357
 1 HG02055.hp1
HG02055.hp1
 intron_variant MODIFIER c.275-741T>A
c.275-741T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487202
chr21:42487412 A
A
 G
G
 3 a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
 3 HG02055.hp1
HG02818.hp1
HG03225.hp2
HG02055.hp1
HG02818.hp1
HG03225.hp2
 intron_variant MODIFIER c.275-951T>C
c.275-951T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487412
chr21:42487766 G
G
 C
C
 5 a0001c0001t0002g0292
a0001c0001t0003g0030
a0001c0001t0003g0293
others(2): Show 
a0001c0001t0002g0292
a0001c0001t0003g0030
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0004g0294
 6 HG02083.hp1
NA18939.hp2
NA19067.hp1
others(3): Show 
HG02083.hp1
NA18939.hp2
NA19067.hp1
NA19074.hp2
NA19080.hp2
NA19087.hp2
 intron_variant MODIFIER c.275-1305C>G
c.275-1305C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487766
chr21:42487888 A
A
 AATGTCCT
others(17): Show 
AATGTCCTGGGCACTTTGTGAGATG
 1 a0001c0001t0001g0150
a0001c0001t0001g0150
 1 NA19059.hp2
NA19059.hp2
 intron_variant MODIFIER c.275-1451_275-1428d
others(26): Show 
c.275-1451_275-1428dupCATCTCACAAAGTGCCCAGGACAT
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487888
chr21:42487915 C
C
 T
T
 5 a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
others(2): Show 
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0003g0147
a0001c0001t0003g0148
 5 HG02258.hp2
HG02818.hp2
HG03139.hp1
others(2): Show 
HG02258.hp2
HG02818.hp2
HG03139.hp1
HG03195.hp1
HG03486.hp1
 intron_variant MODIFIER c.275-1454G>A
c.275-1454G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487915
chr21:42487953 G
G
 A
A
 36 a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
others(33): Show 
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0002g0032
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0003g0328
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0017t0001g0354
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
 37 HG00140.hp1
HG00323.hp2
HG01070.hp2
others(34): Show 
HG00140.hp1
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG02027.hp2
HG02074.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19070.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.275-1492C>T
c.275-1492C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487953
chr21:42487986 C
C
 G
G
 1 a0001c0002t0002g0070
a0001c0002t0002g0070
 1 NA18968.hp2
NA18968.hp2
 intron_variant MODIFIER c.275-1525G>C
c.275-1525G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42487986
chr21:42488019 G
G
 A
A
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-1558C>T
c.275-1558C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488019
chr21:42488090 T
T
 A
A
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.275-1629A>T
c.275-1629A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488090
chr21:42488092 G
G
 T
T
 4 a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
others(1): Show 
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 5 HG00099.hp1
HG00639.hp1
HG01515.hp2
others(2): Show 
HG00099.hp1
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.275-1631C>A
c.275-1631C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488092
chr21:42488353 C
C
 T
T
 50 a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0028
others(47): Show 
a0001c0001t0001g0003
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0003g0002
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0004g0294
a0002c0003t0001g0303
a0002c0003t0003g0262
a0004c0008t0001g0272
a0007c0012t0001g0273
a0008c0015t0001g0289
 60 HG00140.hp2
HG00597.hp2
HG00609.hp1
others(57): Show 
HG00140.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG01069.hp1
HG01175.hp1
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02165.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
NA18612.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18961.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18988.hp2
NA18994.hp1
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19054.hp2
NA19057.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20805.hp1
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.275-1892G>A
c.275-1892G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488353
chr21:42488680 C
C
 T
T
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.275-2219G>A
c.275-2219G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488680
chr21:42488724 T
T
 C
C
 1 a0001c0001t0001g0226
a0001c0001t0001g0226
 1 HG02886.hp1
HG02886.hp1
 intron_variant MODIFIER c.275-2263A>G
c.275-2263A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488724
chr21:42488737 A
A
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-2276T>A
c.275-2276T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488737
chr21:42488866 T
T
 C
C
 1 a0001c0001t0001g0225
a0001c0001t0001g0225
 1 HG01981.hp2
HG01981.hp2
 intron_variant MODIFIER c.275-2405A>G
c.275-2405A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488866
chr21:42488880 A
A
 C
C
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-2419T>G
c.275-2419T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488880
chr21:42488881 AT
AT
 A
A
 6 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(3): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0003g0215
a0006c0018t0001g0369
a0010c0009t0001g0366
 6 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(3): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
NA18960.hp2
 intron_variant MODIFIER c.275-2421delA
c.275-2421delA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488881
chr21:42488892 A
A
 T
T
 4 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0318
others(1): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0318
a0001c0001t0001g0319
 6 HG01243.hp1
HG01884.hp2
HG02280.hp2
others(3): Show 
HG01243.hp1
HG01884.hp2
HG02280.hp2
HG02723.hp2
HG03041.hp2
HG03540.hp1
 intron_variant MODIFIER c.275-2431T>A
c.275-2431T>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488892
chr21:42488987 A
A
 AGTTG
AGTTG
 95 a0001c0001t0003g0025
a0001c0001t0003g0261
a0001c0002t0001g0012
others(92): Show 
a0001c0001t0003g0025
a0001c0001t0003g0261
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0010t0001g0066
 105 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(102): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp1
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01175.hp1
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19043.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20805.hp1
NA20905.hp1
 intron_variant MODIFIER c.275-2530_275-2527d
others(6): Show 
c.275-2530_275-2527dupCAAC
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42488987
chr21:42489029 C
C
 CTGGT
CTGGT
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-2572_275-2569d
others(6): Show 
c.275-2572_275-2569dupACCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489029
chr21:42489192 G
G
 A
A
 90 a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
others(87): Show 
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
 99 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(96): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02071.hp1
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.275-2731C>T
c.275-2731C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489192
chr21:42489265 CTGGT
CTGGT
 C
C
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.275-2808_275-2805d
others(6): Show 
c.275-2808_275-2805delACCA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489265
chr21:42489324 G
G
 T
T
 1 a0001c0004t0003g0360
a0001c0004t0003g0360
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.275-2863C>A
c.275-2863C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489324
chr21:42489378 T
T
 G
G
 1 a0001c0001t0003g0302
a0001c0001t0003g0302
 1 HG03927.hp2
HG03927.hp2
 intron_variant MODIFIER c.275-2917A>C
c.275-2917A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489378
chr21:42489565 A
A
 G
G
 7 a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0227
others(4): Show 
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0364
a0001c0001t0002g0230
 9 HG00738.hp2
HG01192.hp2
HG01243.hp2
others(6): Show 
HG00738.hp2
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG03239.hp2
NA18747.hp1
NA18997.hp1
NA19081.hp2
NA20905.hp2
 intron_variant MODIFIER c.275-3104T>C
c.275-3104T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489565
chr21:42489705 C
C
 T
T
 1 a0001c0001t0002g0144
a0001c0001t0002g0144
 1 NA18946.hp2
NA18946.hp2
 intron_variant MODIFIER c.274+3053G>A
c.274+3053G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489705
chr21:42489708 T
T
 G
G
 1 a0001c0002t0002g0140
a0001c0002t0002g0140
 1 HG02040.hp2
HG02040.hp2
 intron_variant MODIFIER c.274+3050A>C
c.274+3050A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489708
chr21:42489727 T
T
 A
A
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.274+3031A>T
c.274+3031A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489727
chr21:42489761 T
T
 TC
TC
 4 a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
others(1): Show 
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 5 HG00099.hp1
HG00639.hp1
HG01515.hp2
others(2): Show 
HG00099.hp1
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.274+2996dupG
c.274+2996dupG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489761
chr21:42489762 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.274+2996G>A
c.274+2996G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489762
chr21:42489920 C
C
 T
T
 2 a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0244
a0001c0001t0001g0245
 2 HG02615.hp1
HG03209.hp1
HG02615.hp1
HG03209.hp1
 intron_variant MODIFIER c.274+2838G>A
c.274+2838G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42489920
chr21:42490012 G
G
 A
A
 18 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0241
others(15): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0257
a0001c0001t0002g0246
a0001c0001t0003g0243
a0001c0001t0003g0253
 20 HG01109.hp2
HG01167.hp1
HG02109.hp1
others(17): Show 
HG01109.hp2
HG01167.hp1
HG02109.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03579.hp1
NA20300.hp2
 intron_variant MODIFIER c.274+2746C>T
c.274+2746C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490012
chr21:42490090 T
T
 C
C
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.274+2668A>G
c.274+2668A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490090
chr21:42490130 T
T
 C
C
 18 a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0241
others(15): Show 
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0257
a0001c0001t0002g0246
a0001c0001t0003g0243
a0001c0001t0003g0253
 20 HG01109.hp2
HG01167.hp1
HG02109.hp1
others(17): Show 
HG01109.hp2
HG01167.hp1
HG02109.hp1
HG02280.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02647.hp1
HG02809.hp1
HG02896.hp2
HG02922.hp1
HG02976.hp1
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03579.hp1
NA20300.hp2
 intron_variant MODIFIER c.274+2628A>G
c.274+2628A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490130
chr21:42490185 G
G
 A
A
 3 a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
 3 HG02055.hp1
HG02818.hp1
HG03225.hp2
HG02055.hp1
HG02818.hp1
HG03225.hp2
 intron_variant MODIFIER c.274+2573C>T
c.274+2573C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490185
chr21:42490319 G
G
 A
A
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.274+2439C>T
c.274+2439C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490319
chr21:42490361 G
G
 A
A
 1 a0001c0001t0001g0256
a0001c0001t0001g0256
 1 NA19043.hp1
NA19043.hp1
 intron_variant MODIFIER c.274+2397C>T
c.274+2397C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490361
chr21:42490493 C
C
 T
T
 1 a0001c0001t0003g0019
a0001c0001t0003g0019
 2 HG01167.hp2
HG01169.hp1
HG01167.hp2
HG01169.hp1
 intron_variant MODIFIER c.274+2265G>A
c.274+2265G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490493
chr21:42490715 T
T
 C
C
 3 a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
 3 HG02055.hp1
HG02818.hp1
HG03225.hp2
HG02055.hp1
HG02818.hp1
HG03225.hp2
 intron_variant MODIFIER c.274+2043A>G
c.274+2043A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490715
chr21:42490860 CT
CT
 C
C
 368 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(365): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0047
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0184
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0010g0160
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0009c0014t0003g0189
a0010c0009t0001g0366
 407 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(404): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02258.hp1
HG02258.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
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.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.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
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.274+1897delA
c.274+1897delA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490860
chr21:42490863 T
T
 C
C
 368 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(365): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0214
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0047
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0184
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0204
a0001c0001t0003g0213
a0001c0001t0003g0215
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0010g0160
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0009c0014t0003g0189
a0010c0009t0001g0366
 407 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(404): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02258.hp1
HG02258.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
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
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.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp1
NA18959.hp2
NA18960.hp1
NA18960.hp2
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.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
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.274+1895A>G
c.274+1895A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490863
chr21:42490942 T
T
 C
C
 1 a0002c0003t0001g0303
a0002c0003t0001g0303
 1 HG04199.hp1
HG04199.hp1
 intron_variant MODIFIER c.274+1816A>G
c.274+1816A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490942
chr21:42490976 C
C
 T
T
 1 a0001c0002t0002g0068
a0001c0002t0002g0068
 1 HG03041.hp1
HG03041.hp1
 intron_variant MODIFIER c.274+1782G>A
c.274+1782G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42490976
chr21:42491205 C
C
 G
G
 78 a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
others(75): Show 
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0226
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0309
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0032
a0001c0001t0002g0246
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0017t0001g0354
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
a0006c0018t0001g0369
a0010c0009t0001g0366
 84 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(81): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00639.hp1
HG00735.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG02027.hp2
HG02055.hp1
HG02074.hp1
HG02109.hp1
HG02109.hp2
HG02280.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02647.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp2
HG02922.hp1
HG02965.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19030.hp2
NA19043.hp1
NA19070.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.274+1553G>C
c.274+1553G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491205
chr21:42491239 G
G
 A
A
 1 a0001c0002t0004g0141
a0001c0002t0004g0141
 1 HG01074.hp2
HG01074.hp2
 intron_variant MODIFIER c.274+1519C>T
c.274+1519C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491239
chr21:42491240 G
G
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.274+1518C>A
c.274+1518C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491240
chr21:42491273 G
G
 T
T
 1 a0001c0001t0001g0260
a0001c0001t0001g0260
 1 NA19000.hp1
NA19000.hp1
 intron_variant MODIFIER c.274+1485C>A
c.274+1485C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491273
chr21:42491554 A
A
 C
C
 1 a0001c0001t0002g0143
a0001c0001t0002g0143
 1 HG03490.hp1
HG03490.hp1
 intron_variant MODIFIER c.274+1204T>G
c.274+1204T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491554
chr21:42491625 G
G
 A
A
 6 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(3): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0002c0003t0001g0303
a0006c0018t0001g0369
a0010c0009t0001g0366
 6 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(3): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
HG04199.hp1
 intron_variant MODIFIER c.274+1133C>T
c.274+1133C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491625
chr21:42491679 C
C
 T
T
 1 a0001c0001t0001g0042
a0001c0001t0001g0042
 1 NA18948.hp2
NA18948.hp2
 intron_variant MODIFIER c.274+1079G>A
c.274+1079G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491679
chr21:42491693 C
C
 T
T
 4 a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
others(1): Show 
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 5 HG00099.hp1
HG00639.hp1
HG01515.hp2
others(2): Show 
HG00099.hp1
HG00639.hp1
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.274+1065G>A
c.274+1065G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491693
chr21:42491736 C
C
 T
T
 3 a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0003g0243
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0003g0243
 3 HG02109.hp1
HG02280.hp1
HG02922.hp1
HG02109.hp1
HG02280.hp1
HG02922.hp1
 intron_variant MODIFIER c.274+1022G>A
c.274+1022G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491736
chr21:42491853 T
T
 C
C
 1 a0001c0001t0001g0309
a0001c0001t0001g0309
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.274+905A>G
c.274+905A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491853
chr21:42491911 G
G
 A
A
 68 a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
others(65): Show 
a0001c0001t0001g0004
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0309
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0002g0032
a0001c0001t0002g0246
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0003g0253
a0001c0001t0003g0328
a0001c0001t0003g0362
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0017t0001g0354
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
 74 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(71): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00639.hp1
HG00735.hp2
HG01070.hp2
HG01081.hp1
HG01109.hp2
HG01167.hp1
HG01168.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG02027.hp2
HG02055.hp1
HG02074.hp1
HG02280.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02630.hp1
HG02647.hp1
HG02717.hp1
HG02723.hp2
HG02809.hp1
HG02818.hp1
HG02896.hp2
HG02976.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03540.hp1
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19043.hp1
NA19070.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.274+847C>T
c.274+847C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42491911
chr21:42492043 A
A
 C
C
 2 a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0003g0361
a0001c0001t0003g0362
 2 HG02717.hp1
NA19030.hp2
HG02717.hp1
NA19030.hp2
 intron_variant MODIFIER c.274+715T>G
c.274+715T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42492043
chr21:42492130 G
G
 T
T
 6 a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
others(3): Show 
a0001c0001t0001g0317
a0001c0001t0002g0316
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0002c0003t0001g0314
 7 HG00099.hp1
HG00639.hp1
HG00735.hp2
others(4): Show 
HG00099.hp1
HG00639.hp1
HG00735.hp2
HG01496.hp2
HG01515.hp2
HG01517.hp2
HG01978.hp2
 intron_variant MODIFIER c.274+628C>A
c.274+628C>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42492130
chr21:42492277 G
G
 A
A
 2 a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0239
a0001c0001t0001g0240
 2 HG03453.hp1
HG03540.hp2
HG03453.hp1
HG03540.hp2
 intron_variant MODIFIER c.274+481C>T
c.274+481C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42492277
chr21:42492596 C
C
 T
T
 4 a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
others(1): Show 
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 4 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(1): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
 intron_variant MODIFIER c.274+162G>A
c.274+162G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42492596
chr21:42492739 C
C
 T
T
 1 a0001c0002t0003g0067
a0001c0002t0003g0067
 1 HG04115.hp1
HG04115.hp1
 intron_variant MODIFIER c.274+19G>A
c.274+19G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 3/8 chr21 42492739
chr21:42492930 T
T
 C
C
 2 a0001c0004t0001g0308
a0001c0004t0003g0360
a0001c0004t0001g0308
a0001c0004t0003g0360
 2 HG02818.hp1
HG03225.hp2
HG02818.hp1
HG03225.hp2
 intron_variant MODIFIER c.168+36A>G
c.168+36A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 2/8 chr21 42492930
chr21:42493100 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.55-21G>A
c.55-21G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493100
chr21:42493170 A
A
 G
G
 2 a0001c0001t0001g0259
a0001c0001t0001g0310
a0001c0001t0001g0259
a0001c0001t0001g0310
 2 NA18612.hp2
NA18942.hp2
NA18612.hp2
NA18942.hp2
 intron_variant MODIFIER c.55-91T>C
c.55-91T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493170
chr21:42493260 G
G
 A
A
 90 a0001c0001t0001g0065
a0001c0002t0001g0012
a0001c0002t0001g0014
others(87): Show 
a0001c0001t0001g0065
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0006t0001g0074
a0001c0006t0001g0075
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
 98 HG00099.hp2
HG00280.hp1
HG00323.hp1
others(95): Show 
HG00099.hp2
HG00280.hp1
HG00323.hp1
HG00438.hp1
HG00639.hp2
HG00642.hp1
HG00738.hp1
HG00741.hp1
HG00741.hp2
HG01069.hp2
HG01070.hp1
HG01071.hp1
HG01071.hp2
HG01074.hp1
HG01074.hp2
HG01099.hp1
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01123.hp2
HG01192.hp1
HG01257.hp2
HG01258.hp1
HG01358.hp1
HG01358.hp2
HG01433.hp2
HG01496.hp1
HG01515.hp1
HG01516.hp1
HG01928.hp1
HG01928.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02040.hp2
HG02080.hp1
HG02129.hp2
HG02132.hp1
HG02135.hp2
HG02145.hp1
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02258.hp1
HG02293.hp2
HG02572.hp2
HG03041.hp1
HG03453.hp2
HG03490.hp2
HG03491.hp2
HG03492.hp1
HG03579.hp2
HG03654.hp2
HG03669.hp2
HG03704.hp1
HG03710.hp1
HG03834.hp2
HG03942.hp2
HG04115.hp1
NA18747.hp2
NA18943.hp1
NA18945.hp2
NA18961.hp1
NA18965.hp1
NA18968.hp2
NA18970.hp2
NA18977.hp2
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18990.hp1
NA18997.hp2
NA18998.hp2
NA18999.hp1
NA19002.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19055.hp2
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19074.hp1
NA19075.hp2
NA19089.hp1
NA20129.hp2
NA20300.hp1
NA20905.hp1
 intron_variant MODIFIER c.55-181C>T
c.55-181C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493260
chr21:42493268 A
A
 G
G
 365 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
others(362): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0005
a0001c0001t0001g0018
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0145
a0001c0001t0001g0146
a0001c0001t0001g0149
a0001c0001t0001g0150
a0001c0001t0001g0154
a0001c0001t0001g0156
a0001c0001t0001g0161
a0001c0001t0001g0166
a0001c0001t0001g0167
a0001c0001t0001g0172
a0001c0001t0001g0173
a0001c0001t0001g0181
a0001c0001t0001g0183
a0001c0001t0001g0185
a0001c0001t0001g0190
a0001c0001t0001g0193
a0001c0001t0001g0195
a0001c0001t0001g0199
a0001c0001t0001g0202
a0001c0001t0001g0206
a0001c0001t0001g0207
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0017
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0142
a0001c0001t0002g0143
a0001c0001t0002g0144
a0001c0001t0002g0151
a0001c0001t0002g0152
a0001c0001t0002g0159
a0001c0001t0002g0186
a0001c0001t0002g0197
a0001c0001t0002g0198
a0001c0001t0002g0200
a0001c0001t0002g0201
a0001c0001t0002g0203
a0001c0001t0002g0219
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0002g0365
a0001c0001t0003g0001
a0001c0001t0003g0002
a0001c0001t0003g0015
a0001c0001t0003g0016
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0047
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0147
a0001c0001t0003g0148
a0001c0001t0003g0162
a0001c0001t0003g0163
a0001c0001t0003g0164
a0001c0001t0003g0165
a0001c0001t0003g0175
a0001c0001t0003g0176
a0001c0001t0003g0177
a0001c0001t0003g0178
a0001c0001t0003g0182
a0001c0001t0003g0184
a0001c0001t0003g0194
a0001c0001t0003g0196
a0001c0001t0003g0204
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0155
a0001c0001t0004g0158
a0001c0001t0004g0169
a0001c0001t0004g0170
a0001c0001t0004g0171
a0001c0001t0004g0180
a0001c0001t0004g0188
a0001c0001t0004g0192
a0001c0001t0004g0205
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0006g0157
a0001c0001t0006g0174
a0001c0001t0006g0179
a0001c0001t0007g0208
a0001c0001t0007g0210
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0001t0010g0160
a0001c0001t0011g0034
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0002g0211
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0016t0004g0187
a0001c0017t0001g0354
a0002c0003t0001g0043
a0002c0003t0001g0046
a0002c0003t0001g0153
a0002c0003t0001g0168
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0003c0013t0002g0191
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0209
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0009c0014t0003g0189
a0010c0009t0001g0366
 404 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(401): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00280.hp2
HG00323.hp1
HG00323.hp2
HG00408.hp1
HG00408.hp2
HG00423.hp1
HG00423.hp2
HG00438.hp1
HG00438.hp2
HG00597.hp1
HG00597.hp2
HG00609.hp1
HG00609.hp2
HG00621.hp1
HG00621.hp2
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.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
HG01123.hp1
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01168.hp2
HG01169.hp1
HG01169.hp2
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01255.hp2
HG01257.hp1
HG01257.hp2
HG01258.hp1
HG01258.hp2
HG01261.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.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
HG02258.hp1
HG02258.hp2
HG02280.hp1
HG02280.hp2
HG02293.hp1
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02486.hp2
HG02523.hp2
HG02559.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02602.hp1
HG02602.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02683.hp2
HG02717.hp1
HG02717.hp2
HG02723.hp1
HG02723.hp2
HG02735.hp1
HG02735.hp2
HG02738.hp1
HG02738.hp2
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02818.hp2
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02922.hp2
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG02976.hp2
HG03017.hp1
HG03017.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp1
HG03139.hp2
HG03195.hp1
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03225.hp2
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03486.hp1
HG03486.hp2
HG03490.hp1
HG03490.hp2
HG03491.hp1
HG03491.hp2
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp1
HG03669.hp2
HG03688.hp1
HG03688.hp2
HG03704.hp1
HG03704.hp2
HG03710.hp1
HG03710.hp2
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04199.hp2
HG04204.hp1
HG04204.hp2
HG04228.hp1
HG04228.hp2
HG06807.hp1
HG06807.hp2
NA18522.hp1
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.hp1
NA18944.hp2
NA18945.hp1
NA18945.hp2
NA18946.hp1
NA18946.hp2
NA18948.hp1
NA18948.hp2
NA18952.hp1
NA18952.hp2
NA18953.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp1
NA18955.hp2
NA18956.hp1
NA18956.hp2
NA18957.hp1
NA18957.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18962.hp1
NA18962.hp2
NA18964.hp1
NA18964.hp2
NA18965.hp1
NA18965.hp2
NA18966.hp1
NA18966.hp2
NA18967.hp1
NA18967.hp2
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18969.hp2
NA18970.hp1
NA18970.hp2
NA18971.hp1
NA18971.hp2
NA18977.hp1
NA18977.hp2
NA18979.hp1
NA18979.hp2
NA18980.hp1
NA18980.hp2
NA18981.hp1
NA18981.hp2
NA18982.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp1
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp1
NA18988.hp2
NA18990.hp1
NA18990.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA18999.hp2
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19005.hp2
NA19010.hp1
NA19010.hp2
NA19011.hp1
NA19011.hp2
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp1
NA19054.hp2
NA19055.hp1
NA19055.hp2
NA19057.hp1
NA19057.hp2
NA19059.hp1
NA19059.hp2
NA19060.hp1
NA19060.hp2
NA19062.hp1
NA19062.hp2
NA19063.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19070.hp2
NA19072.hp1
NA19072.hp2
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19077.hp2
NA19079.hp1
NA19079.hp2
NA19080.hp1
NA19080.hp2
NA19081.hp1
NA19081.hp2
NA19085.hp1
NA19085.hp2
NA19087.hp1
NA19087.hp2
NA19088.hp1
NA19088.hp2
NA19089.hp1
NA19089.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
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-189T>C
c.55-189T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493268
chr21:42493311 G
G
 A
A
 253 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(250): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0223
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0002
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0008t0001g0272
a0004c0008t0001g0298
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 283 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(280): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
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
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19055.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-232C>T
c.55-232C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493311
chr21:42493476 ACCTCCCC
others(5): Show 
ACCTCCCCGTTTG
 A
A
 1 a0001c0001t0001g0309
a0001c0001t0001g0309
 1 HG02486.hp1
HG02486.hp1
 intron_variant MODIFIER c.55-409_55-398delCA
others(10): Show 
c.55-409_55-398delCAAACGGGGAGG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493476
chr21:42493559 T
T
 G
G
 1 a0001c0001t0002g0355
a0001c0001t0002g0355
 1 NA19072.hp1
NA19072.hp1
 intron_variant MODIFIER c.55-480A>C
c.55-480A>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493559
chr21:42493584 CCTTTG
CCTTTG
 C
C
 4 a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
a0001c0001t0008g0358
 5 HG02896.hp1
HG02897.hp2
HG03471.hp2
others(2): Show 
HG02896.hp1
HG02897.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.55-510_55-506delCA
others(3): Show 
c.55-510_55-506delCAAAG
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493584
chr21:42493591 C
C
 A
A
 4 a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
others(1): Show 
a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0002g0304
a0001c0001t0008g0358
 5 HG02896.hp1
HG02897.hp2
HG03471.hp2
others(2): Show 
HG02896.hp1
HG02897.hp2
HG03471.hp2
NA18522.hp2
NA19030.hp1
 intron_variant MODIFIER c.55-512G>T
c.55-512G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493591
chr21:42493662 T
T
 A
A
 1 a0002c0003t0001g0356
a0002c0003t0001g0356
 1 HG03654.hp1
HG03654.hp1
 intron_variant MODIFIER c.55-583A>T
c.55-583A>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493662
chr21:42493852 G
G
 C
C
 1 a0001c0001t0001g0257
a0001c0001t0001g0257
 1 HG03098.hp2
HG03098.hp2
 intron_variant MODIFIER c.55-773C>G
c.55-773C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493852
chr21:42493873 C
C
 G
G
 83 a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0021
others(80): Show 
a0001c0001t0001g0003
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0359
a0001c0001t0001g0364
a0001c0001t0002g0022
a0001c0001t0002g0230
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0003g0002
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0004g0294
a0001c0001t0008g0358
a0002c0003t0001g0303
a0002c0003t0003g0262
a0004c0008t0001g0272
a0004c0008t0001g0298
a0007c0012t0001g0273
a0008c0015t0001g0289
 98 HG00140.hp2
HG00597.hp2
HG00609.hp1
others(95): Show 
HG00140.hp2
HG00597.hp2
HG00609.hp1
HG00642.hp2
HG00738.hp2
HG01069.hp1
HG01081.hp2
HG01167.hp2
HG01169.hp1
HG01175.hp1
HG01192.hp2
HG01243.hp2
HG01261.hp2
HG01884.hp1
HG01981.hp2
HG02055.hp2
HG02056.hp1
HG02083.hp1
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02451.hp1
HG02451.hp2
HG02615.hp2
HG02622.hp2
HG02630.hp2
HG02683.hp1
HG02735.hp2
HG02738.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp1
HG02897.hp1
HG02897.hp2
HG02965.hp1
HG02970.hp1
HG02976.hp2
HG03139.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp2
HG03540.hp2
HG03834.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp2
NA18944.hp1
NA18952.hp1
NA18954.hp2
NA18955.hp2
NA18961.hp2
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18988.hp2
NA18994.hp1
NA18997.hp1
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp2
NA19030.hp1
NA19054.hp2
NA19057.hp1
NA19067.hp1
NA19067.hp2
NA19074.hp2
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp2
NA20129.hp1
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-794G>C
c.55-794G>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493873
chr21:42493911 C
C
 T
T
 2 a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0040
a0001c0001t0001g0041
 2 HG02970.hp2
HG03209.hp2
HG02970.hp2
HG03209.hp2
 intron_variant MODIFIER c.55-832G>A
c.55-832G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493911
chr21:42493914 C
C
 T
T
 1 a0001c0001t0002g0142
a0001c0001t0002g0142
 1 HG03710.hp2
HG03710.hp2
 intron_variant MODIFIER c.55-835G>A
c.55-835G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493914
chr21:42493921 C
C
 T
T
 255 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(252): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0002
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0002t0001g0012
a0001c0002t0001g0014
a0001c0002t0001g0039
a0001c0002t0001g0069
a0001c0002t0001g0071
a0001c0002t0001g0073
a0001c0002t0001g0083
a0001c0002t0001g0087
a0001c0002t0001g0089
a0001c0002t0001g0090
a0001c0002t0001g0098
a0001c0002t0001g0100
a0001c0002t0001g0109
a0001c0002t0001g0114
a0001c0002t0001g0120
a0001c0002t0001g0121
a0001c0002t0001g0123
a0001c0002t0001g0125
a0001c0002t0001g0130
a0001c0002t0001g0131
a0001c0002t0001g0135
a0001c0002t0001g0137
a0001c0002t0002g0006
a0001c0002t0002g0007
a0001c0002t0002g0009
a0001c0002t0002g0010
a0001c0002t0002g0011
a0001c0002t0002g0013
a0001c0002t0002g0035
a0001c0002t0002g0038
a0001c0002t0002g0068
a0001c0002t0002g0070
a0001c0002t0002g0076
a0001c0002t0002g0078
a0001c0002t0002g0079
a0001c0002t0002g0080
a0001c0002t0002g0081
a0001c0002t0002g0082
a0001c0002t0002g0084
a0001c0002t0002g0086
a0001c0002t0002g0088
a0001c0002t0002g0091
a0001c0002t0002g0092
a0001c0002t0002g0093
a0001c0002t0002g0094
a0001c0002t0002g0095
a0001c0002t0002g0096
a0001c0002t0002g0097
a0001c0002t0002g0099
a0001c0002t0002g0101
a0001c0002t0002g0102
a0001c0002t0002g0103
a0001c0002t0002g0104
a0001c0002t0002g0105
a0001c0002t0002g0106
a0001c0002t0002g0107
a0001c0002t0002g0108
a0001c0002t0002g0110
a0001c0002t0002g0111
a0001c0002t0002g0112
a0001c0002t0002g0113
a0001c0002t0002g0115
a0001c0002t0002g0116
a0001c0002t0002g0117
a0001c0002t0002g0122
a0001c0002t0002g0124
a0001c0002t0002g0127
a0001c0002t0002g0128
a0001c0002t0002g0132
a0001c0002t0002g0133
a0001c0002t0002g0134
a0001c0002t0002g0136
a0001c0002t0002g0138
a0001c0002t0002g0139
a0001c0002t0002g0140
a0001c0002t0003g0067
a0001c0002t0003g0126
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0004g0008
a0001c0002t0004g0072
a0001c0002t0004g0118
a0001c0002t0004g0141
a0001c0002t0009g0077
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0006t0001g0074
a0001c0006t0001g0075
a0001c0017t0001g0354
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0002c0011t0001g0119
a0003c0005t0002g0085
a0003c0005t0002g0129
a0004c0008t0001g0272
a0004c0008t0001g0298
a0004c0010t0001g0066
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 285 HG00099.hp1
HG00099.hp2
HG00140.hp1
others(282): Show 
HG00099.hp1
HG00099.hp2
HG00140.hp1
HG00140.hp2
HG00280.hp1
HG00323.hp1
HG00323.hp2
HG00438.hp1
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00639.hp2
HG00642.hp1
HG00642.hp2
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
HG01106.hp1
HG01106.hp2
HG01109.hp1
HG01109.hp2
HG01123.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01257.hp2
HG01258.hp1
HG01261.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
HG01934.hp1
HG01934.hp2
HG01943.hp1
HG01943.hp2
HG01952.hp1
HG01952.hp2
HG01975.hp1
HG01975.hp2
HG01978.hp1
HG01978.hp2
HG01981.hp1
HG01981.hp2
HG01993.hp1
HG01993.hp2
HG02027.hp1
HG02027.hp2
HG02040.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02080.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02129.hp2
HG02132.hp1
HG02135.hp1
HG02135.hp2
HG02145.hp1
HG02145.hp2
HG02148.hp2
HG02155.hp1
HG02155.hp2
HG02165.hp2
HG02258.hp1
HG02280.hp1
HG02280.hp2
HG02293.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02572.hp2
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp1
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03453.hp2
HG03471.hp1
HG03471.hp2
HG03490.hp2
HG03491.hp1
HG03492.hp1
HG03492.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03579.hp2
HG03654.hp1
HG03654.hp2
HG03669.hp2
HG03688.hp1
HG03704.hp1
HG03710.hp1
HG03834.hp1
HG03834.hp2
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG03942.hp2
HG04115.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18747.hp2
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18943.hp1
NA18944.hp1
NA18945.hp2
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18968.hp2
NA18969.hp1
NA18970.hp2
NA18971.hp2
NA18977.hp2
NA18979.hp1
NA18980.hp1
NA18981.hp1
NA18982.hp2
NA18983.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18988.hp2
NA18990.hp1
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18997.hp2
NA18998.hp1
NA18998.hp2
NA18999.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp1
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19004.hp2
NA19005.hp1
NA19010.hp2
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19043.hp2
NA19054.hp2
NA19055.hp2
NA19057.hp1
NA19059.hp1
NA19060.hp1
NA19062.hp2
NA19063.hp1
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp1
NA19074.hp2
NA19075.hp1
NA19075.hp2
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19089.hp1
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20129.hp2
NA20300.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.55-842G>A
c.55-842G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42493921
chr21:42494290 T
T
 C
C
 1 a0001c0001t0005g0320
a0001c0001t0005g0320
 1 HG00639.hp1
HG00639.hp1
 intron_variant MODIFIER c.55-1211A>G
c.55-1211A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494290
chr21:42494478 C
C
 T
T
 5 a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
others(2): Show 
a0001c0001t0001g0258
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 5 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(2): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
HG02965.hp2
 intron_variant MODIFIER c.55-1399G>A
c.55-1399G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494478
chr21:42494494 A
A
 C
C
 1 a0001c0004t0003g0360
a0001c0004t0003g0360
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.55-1415T>G
c.55-1415T>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494494
chr21:42494704 A
A
 AT
AT
 70 a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
others(67): Show 
a0001c0001t0001g0005
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0040
a0001c0001t0001g0041
a0001c0001t0001g0042
a0001c0001t0001g0044
a0001c0001t0001g0045
a0001c0001t0001g0048
a0001c0001t0001g0049
a0001c0001t0001g0051
a0001c0001t0001g0052
a0001c0001t0001g0053
a0001c0001t0001g0054
a0001c0001t0001g0056
a0001c0001t0001g0057
a0001c0001t0001g0058
a0001c0001t0001g0059
a0001c0001t0001g0060
a0001c0001t0001g0062
a0001c0001t0001g0063
a0001c0001t0001g0065
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0313
a0001c0001t0001g0364
a0001c0001t0002g0022
a0001c0001t0002g0050
a0001c0001t0002g0061
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0003g0019
a0001c0001t0003g0047
a0001c0001t0003g0055
a0001c0001t0003g0064
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0002t0001g0039
a0001c0002t0002g0038
a0002c0003t0001g0043
a0002c0003t0001g0046
 77 HG00408.hp1
HG00408.hp2
HG00738.hp2
others(74): Show 
HG00408.hp1
HG00408.hp2
HG00738.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01169.hp1
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp1
HG01261.hp2
HG01516.hp1
HG01884.hp1
HG01928.hp2
HG01981.hp2
HG02056.hp2
HG02080.hp2
HG02109.hp1
HG02148.hp1
HG02280.hp1
HG02293.hp1
HG02451.hp1
HG02523.hp2
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02622.hp1
HG02622.hp2
HG02647.hp1
HG02809.hp1
HG02809.hp2
HG02886.hp1
HG02896.hp2
HG02897.hp1
HG02922.hp1
HG02970.hp1
HG02970.hp2
HG02976.hp1
HG03017.hp1
HG03017.hp2
HG03098.hp1
HG03098.hp2
HG03195.hp2
HG03209.hp1
HG03209.hp2
HG03225.hp1
HG03239.hp1
HG03239.hp2
HG03453.hp1
HG03491.hp2
HG03540.hp2
HG03579.hp1
HG03704.hp2
HG04204.hp1
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18940.hp2
NA18948.hp1
NA18948.hp2
NA18955.hp1
NA18970.hp1
NA18980.hp2
NA18981.hp2
NA18988.hp2
NA18997.hp1
NA19011.hp2
NA19043.hp1
NA19055.hp1
NA19062.hp1
NA19081.hp1
NA19081.hp2
NA19088.hp1
NA19088.hp2
NA20300.hp2
NA20905.hp2
 intron_variant MODIFIER c.54+1428dupA
c.54+1428dupA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494704
chr21:42494704 A
A
 ATT
ATT
 6 a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0223
others(3): Show 
a0001c0001t0001g0036
a0001c0001t0001g0037
a0001c0001t0001g0223
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
 6 HG01081.hp2
HG02145.hp2
HG02738.hp2
others(3): Show 
HG01081.hp2
HG02145.hp2
HG02738.hp2
HG02965.hp1
HG03139.hp2
NA19057.hp2
 intron_variant MODIFIER c.54+1427_54+1428dup
others(2): Show 
c.54+1427_54+1428dupAA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494704
chr21:42494704 AT
AT
 A
A
 37 a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
others(34): Show 
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0002g0032
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0328
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0017t0001g0354
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
 38 HG00140.hp1
HG00323.hp2
HG01070.hp2
others(35): Show 
HG00140.hp1
HG00323.hp2
HG01070.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01516.hp2
HG01517.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG02027.hp2
HG02074.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19070.hp1
NA19072.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.54+1428delA
c.54+1428delA
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494704
chr21:42494789 T
T
 C
C
 3 a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
a0001c0002t0003g0216
a0001c0002t0003g0217
a0001c0002t0003g0218
 3 NA18999.hp1
NA19062.hp2
NA19063.hp1
NA18999.hp1
NA19062.hp2
NA19063.hp1
 intron_variant MODIFIER c.54+1344A>G
c.54+1344A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494789
chr21:42494861 G
G
 C
C
 52 a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
others(49): Show 
a0001c0001t0001g0004
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0363
a0001c0001t0002g0032
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0017t0001g0354
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0005c0007t0001g0336
 56 HG00099.hp1
HG00140.hp1
HG00323.hp2
others(53): Show 
HG00099.hp1
HG00140.hp1
HG00323.hp2
HG00639.hp1
HG00735.hp2
HG01070.hp2
HG01081.hp1
HG01168.hp1
HG01175.hp2
HG01243.hp1
HG01255.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp2
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG02027.hp2
HG02055.hp1
HG02074.hp1
HG02280.hp2
HG02630.hp1
HG02717.hp1
HG02723.hp2
HG03041.hp2
HG03225.hp2
HG03540.hp1
HG03654.hp1
HG03688.hp1
HG03927.hp1
HG04204.hp2
HG04228.hp2
NA18941.hp1
NA18953.hp2
NA18954.hp1
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18964.hp1
NA18971.hp2
NA18994.hp2
NA19003.hp1
NA19004.hp1
NA19011.hp1
NA19030.hp2
NA19070.hp1
NA19072.hp1
NA20752.hp1
NA20752.hp2
 intron_variant MODIFIER c.54+1272C>G
c.54+1272C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494861
chr21:42494954 C
C
 A
A
 2 a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0004t0001g0357
a0001c0004t0003g0360
 2 HG02055.hp1
HG03225.hp2
HG02055.hp1
HG03225.hp2
 intron_variant MODIFIER c.54+1179G>T
c.54+1179G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42494954
chr21:42495132 G
G
 C
C
 3 a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0008g0358
a0001c0001t0001g0033
a0001c0001t0001g0359
a0001c0001t0008g0358
 4 HG02896.hp1
HG02897.hp2
HG03471.hp2
others(1): Show 
HG02896.hp1
HG02897.hp2
HG03471.hp2
NA18522.hp2
 intron_variant MODIFIER c.54+1001C>G
c.54+1001C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495132
chr21:42495182 T
T
 C
C
 1 a0001c0004t0003g0360
a0001c0004t0003g0360
 1 HG03225.hp2
HG03225.hp2
 intron_variant MODIFIER c.54+951A>G
c.54+951A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495182
chr21:42495217 T
T
 C
C
 3 a0001c0001t0001g0363
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0001g0363
a0001c0001t0003g0361
a0001c0001t0003g0362
 3 HG02630.hp1
HG02717.hp1
NA19030.hp2
HG02630.hp1
HG02717.hp1
NA19030.hp2
 intron_variant MODIFIER c.54+916A>G
c.54+916A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495217
chr21:42495248 G
G
 A
A
 1 a0001c0001t0002g0219
a0001c0001t0002g0219
 1 HG02071.hp2
HG02071.hp2
 intron_variant MODIFIER c.54+885C>T
c.54+885C>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495248
chr21:42495294 A
A
 G
G
 1 a0001c0001t0003g0220
a0001c0001t0003g0220
 1 HG00609.hp1
HG00609.hp1
 intron_variant MODIFIER c.54+839T>C
c.54+839T>C
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495294
chr21:42495431 T
T
 C
C
 167 a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
others(164): Show 
a0001c0001t0001g0003
a0001c0001t0001g0004
a0001c0001t0001g0020
a0001c0001t0001g0021
a0001c0001t0001g0023
a0001c0001t0001g0024
a0001c0001t0001g0026
a0001c0001t0001g0028
a0001c0001t0001g0029
a0001c0001t0001g0033
a0001c0001t0001g0223
a0001c0001t0001g0225
a0001c0001t0001g0226
a0001c0001t0001g0227
a0001c0001t0001g0228
a0001c0001t0001g0229
a0001c0001t0001g0231
a0001c0001t0001g0232
a0001c0001t0001g0233
a0001c0001t0001g0239
a0001c0001t0001g0240
a0001c0001t0001g0241
a0001c0001t0001g0242
a0001c0001t0001g0244
a0001c0001t0001g0245
a0001c0001t0001g0247
a0001c0001t0001g0248
a0001c0001t0001g0249
a0001c0001t0001g0250
a0001c0001t0001g0251
a0001c0001t0001g0252
a0001c0001t0001g0254
a0001c0001t0001g0255
a0001c0001t0001g0256
a0001c0001t0001g0257
a0001c0001t0001g0258
a0001c0001t0001g0259
a0001c0001t0001g0260
a0001c0001t0001g0263
a0001c0001t0001g0264
a0001c0001t0001g0265
a0001c0001t0001g0266
a0001c0001t0001g0269
a0001c0001t0001g0274
a0001c0001t0001g0275
a0001c0001t0001g0278
a0001c0001t0001g0279
a0001c0001t0001g0280
a0001c0001t0001g0282
a0001c0001t0001g0283
a0001c0001t0001g0285
a0001c0001t0001g0286
a0001c0001t0001g0287
a0001c0001t0001g0288
a0001c0001t0001g0290
a0001c0001t0001g0300
a0001c0001t0001g0301
a0001c0001t0001g0305
a0001c0001t0001g0307
a0001c0001t0001g0309
a0001c0001t0001g0310
a0001c0001t0001g0311
a0001c0001t0001g0312
a0001c0001t0001g0313
a0001c0001t0001g0317
a0001c0001t0001g0318
a0001c0001t0001g0319
a0001c0001t0001g0321
a0001c0001t0001g0329
a0001c0001t0001g0335
a0001c0001t0001g0359
a0001c0001t0001g0363
a0001c0001t0001g0364
a0001c0001t0001g0367
a0001c0001t0001g0368
a0001c0001t0002g0022
a0001c0001t0002g0032
a0001c0001t0002g0230
a0001c0001t0002g0246
a0001c0001t0002g0284
a0001c0001t0002g0292
a0001c0001t0002g0296
a0001c0001t0002g0297
a0001c0001t0002g0299
a0001c0001t0002g0304
a0001c0001t0002g0316
a0001c0001t0002g0327
a0001c0001t0002g0333
a0001c0001t0002g0334
a0001c0001t0002g0339
a0001c0001t0002g0340
a0001c0001t0002g0341
a0001c0001t0002g0342
a0001c0001t0002g0343
a0001c0001t0002g0348
a0001c0001t0002g0349
a0001c0001t0002g0350
a0001c0001t0002g0351
a0001c0001t0002g0352
a0001c0001t0002g0353
a0001c0001t0002g0355
a0001c0001t0003g0002
a0001c0001t0003g0019
a0001c0001t0003g0025
a0001c0001t0003g0027
a0001c0001t0003g0030
a0001c0001t0003g0220
a0001c0001t0003g0221
a0001c0001t0003g0222
a0001c0001t0003g0224
a0001c0001t0003g0234
a0001c0001t0003g0235
a0001c0001t0003g0236
a0001c0001t0003g0237
a0001c0001t0003g0238
a0001c0001t0003g0243
a0001c0001t0003g0253
a0001c0001t0003g0261
a0001c0001t0003g0267
a0001c0001t0003g0268
a0001c0001t0003g0270
a0001c0001t0003g0271
a0001c0001t0003g0276
a0001c0001t0003g0277
a0001c0001t0003g0281
a0001c0001t0003g0291
a0001c0001t0003g0293
a0001c0001t0003g0295
a0001c0001t0003g0302
a0001c0001t0003g0328
a0001c0001t0003g0361
a0001c0001t0003g0362
a0001c0001t0004g0294
a0001c0001t0004g0338
a0001c0001t0004g0344
a0001c0001t0005g0031
a0001c0001t0005g0315
a0001c0001t0005g0320
a0001c0001t0008g0306
a0001c0001t0008g0358
a0001c0004t0001g0308
a0001c0004t0001g0357
a0001c0004t0003g0360
a0001c0017t0001g0354
a0002c0003t0001g0303
a0002c0003t0001g0314
a0002c0003t0001g0322
a0002c0003t0001g0323
a0002c0003t0001g0324
a0002c0003t0001g0325
a0002c0003t0001g0326
a0002c0003t0001g0330
a0002c0003t0001g0331
a0002c0003t0001g0332
a0002c0003t0001g0337
a0002c0003t0001g0345
a0002c0003t0001g0346
a0002c0003t0001g0347
a0002c0003t0001g0356
a0002c0003t0003g0262
a0004c0008t0001g0272
a0004c0008t0001g0298
a0005c0007t0001g0336
a0006c0018t0001g0369
a0007c0012t0001g0273
a0008c0015t0001g0289
a0010c0009t0001g0366
 188 HG00099.hp1
HG00140.hp1
HG00140.hp2
others(185): Show 
HG00099.hp1
HG00140.hp1
HG00140.hp2
HG00323.hp2
HG00597.hp2
HG00609.hp1
HG00639.hp1
HG00642.hp2
HG00735.hp2
HG00738.hp2
HG01069.hp1
HG01070.hp2
HG01081.hp1
HG01081.hp2
HG01109.hp2
HG01167.hp1
HG01167.hp2
HG01168.hp1
HG01169.hp1
HG01175.hp1
HG01175.hp2
HG01192.hp2
HG01243.hp1
HG01243.hp2
HG01255.hp2
HG01261.hp2
HG01361.hp1
HG01361.hp2
HG01433.hp1
HG01496.hp2
HG01515.hp2
HG01516.hp2
HG01517.hp1
HG01517.hp2
HG01884.hp1
HG01884.hp2
HG01891.hp1
HG01891.hp2
HG01934.hp1
HG01934.hp2
HG01978.hp2
HG01981.hp2
HG02027.hp2
HG02055.hp1
HG02055.hp2
HG02056.hp1
HG02074.hp1
HG02083.hp1
HG02109.hp1
HG02109.hp2
HG02135.hp1
HG02145.hp2
HG02165.hp2
HG02280.hp1
HG02280.hp2
HG02451.hp1
HG02451.hp2
HG02486.hp1
HG02559.hp2
HG02572.hp1
HG02615.hp1
HG02615.hp2
HG02622.hp1
HG02622.hp2
HG02630.hp1
HG02630.hp2
HG02647.hp1
HG02647.hp2
HG02683.hp1
HG02717.hp1
HG02717.hp2
HG02723.hp2
HG02735.hp2
HG02738.hp1
HG02809.hp1
HG02809.hp2
HG02818.hp1
HG02886.hp1
HG02886.hp2
HG02896.hp1
HG02896.hp2
HG02897.hp1
HG02897.hp2
HG02922.hp1
HG02965.hp1
HG02965.hp2
HG02970.hp1
HG02976.hp1
HG02976.hp2
HG03041.hp2
HG03098.hp1
HG03098.hp2
HG03139.hp2
HG03195.hp2
HG03209.hp1
HG03225.hp1
HG03225.hp2
HG03239.hp2
HG03453.hp1
HG03471.hp1
HG03471.hp2
HG03540.hp1
HG03540.hp2
HG03579.hp1
HG03654.hp1
HG03688.hp1
HG03834.hp1
HG03927.hp1
HG03927.hp2
HG03942.hp1
HG04115.hp2
HG04199.hp1
HG04204.hp1
HG04204.hp2
HG04228.hp2
HG06807.hp2
NA18522.hp2
NA18612.hp2
NA18747.hp1
NA18906.hp1
NA18906.hp2
NA18939.hp1
NA18939.hp2
NA18940.hp1
NA18941.hp1
NA18941.hp2
NA18942.hp2
NA18944.hp1
NA18952.hp1
NA18953.hp2
NA18954.hp1
NA18954.hp2
NA18955.hp2
NA18956.hp2
NA18959.hp2
NA18960.hp1
NA18961.hp2
NA18964.hp1
NA18965.hp2
NA18966.hp2
NA18967.hp1
NA18968.hp1
NA18969.hp1
NA18971.hp2
NA18979.hp1
NA18983.hp2
NA18984.hp2
NA18987.hp1
NA18987.hp2
NA18988.hp2
NA18994.hp1
NA18994.hp2
NA18997.hp1
NA18998.hp1
NA19000.hp1
NA19000.hp2
NA19002.hp2
NA19003.hp1
NA19003.hp2
NA19004.hp1
NA19011.hp1
NA19030.hp1
NA19030.hp2
NA19043.hp1
NA19054.hp2
NA19057.hp1
NA19063.hp2
NA19067.hp1
NA19067.hp2
NA19070.hp1
NA19072.hp1
NA19074.hp2
NA19075.hp1
NA19077.hp1
NA19079.hp1
NA19080.hp2
NA19081.hp2
NA19085.hp2
NA19087.hp2
NA19240.hp1
NA19240.hp2
NA20129.hp1
NA20300.hp2
NA20752.hp1
NA20752.hp2
NA20805.hp1
NA20905.hp2
homoSapiens_chm13v2.hp1
 intron_variant MODIFIER c.54+702A>G
c.54+702A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495431
chr21:42495488 T
T
 C
C
 1 a0001c0001t0001g0364
a0001c0001t0001g0364
 1 HG01261.hp2
HG01261.hp2
 intron_variant MODIFIER c.54+645A>G
c.54+645A>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495488
chr21:42495500 C
C
 T
T
 1 a0001c0002t0002g0035
a0001c0002t0002g0035
 1 HG02155.hp2
HG02155.hp2
 intron_variant MODIFIER c.54+633G>A
c.54+633G>A
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495500
chr21:42495539 C
C
 A
A
 1 a0001c0001t0002g0365
a0001c0001t0002g0365
 1 NA18946.hp1
NA18946.hp1
 intron_variant MODIFIER c.54+594G>T
c.54+594G>T
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495539
chr21:42495583 G
G
 C
C
 4 a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
others(1): Show 
a0001c0001t0001g0367
a0001c0001t0001g0368
a0006c0018t0001g0369
a0010c0009t0001g0366
 4 HG02109.hp2
HG02647.hp2
HG02717.hp2
others(1): Show 
HG02109.hp2
HG02647.hp2
HG02717.hp2
HG02886.hp2
 intron_variant MODIFIER c.54+550C>G
c.54+550C>G
RSPH1 ENSG00000160188.10 transcript ENST00000291536.8 protein_coding 1/8 chr21 42495583

  • 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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